Alan Beggs | Boston Children's Research

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Related Research Units

Research Overview

A major focus over the years has been on gene discovery and improving methods for identification of pathogenic mutations, with return of these research results to patients in a clinical setting. Current research in the Beggs laboratory utilizes genomic approaches in human patients and animal models to understand the pathophysiology of rare genetic conditions, and to develop animal models for use in creating targeted therapies to treat these devastating childhood disorders.

Laboratory Projects

Gene discovery and disease mechanisms in neuromuscular disease:Much of our work has focused on understanding the genetics of congenital myopathies such as nemaline myopathy (NM), centronuclear myopathy, and related conditions. We have one of the largest data and specimen banks for patients with congenital myopathy, and have used this in contributing to discoveries of over a dozen disease genes for myopathies and related neuromuscular diseases. We continue to enroll patients, find new disease genes, and study the mechanisms leading to weakness in these children.

Development of therapies for congenital myopathies:Availability of faithful animal models and our knowledge of the genetic basis for rare diseases has led to development and testing of new therapies for some of these conditions. We have tested and/or developed myostatin inhibition as well as both protein and gene replacement therapies for myotubular myopathy, resulting in the awarding of a patent for gene therapy of MTM and the creation of a biotechnology company that is now planning clinical trials of gene therapy. Collaborations with colleagues expert in muscle mechanics, have led to tests of drugs (troponin activators) to increase strength. Ongoing work is focusing on small molecule drug screens in zebrafish models and has already resulted in identification of several promising candidates for several neuromuscular mutants.

Discovery of rare Mendelian disease genes: Recent technological advances have revolutionized our ability to sequence entire genomes. With the Manton Center for Orphan Disease Research, we have built an institutional infrastructure to ascertain, consent, and enroll patients with rare genetic diseases into a research program that allows us to study patients with unknown diagnoses who otherwise would be discharged and potentially lost to follow up without the benefit of any research investigation. The Center provides expertise in genomics to junior clinical and research staff and collaborative support in new gene discovery, which has led to numerous genetic discoveries as well as spawning new research projects throughout the hospital.

Research Background

Alan H. Beggs PhD. is the Director of the Manton Center for Orphan Disease Research at Boston Children's Hospital and Sir Edwin & Lady Manton Professor of Pediatrics at Harvard Medical School. Following undergraduate studies at Cornell University, Dr. Beggs obtained his PhD in Human Genetics at Johns Hopkins University, with subsequent postdoctoral fellowship training in medical and molecular genetics at Johns Hopkins and Boston Children’s hospitals. He has general expertise in laboratory and clinical applications of genetics to human disease, and since 1992 has directed an independent research program in the Division of Genetics and Genomics.

Over the years, he has used the toolset of human molecular genetics to study normal biology and pathophysiology of a variety of disorders including muscular dystrophies, cardiac arrhythmias, developmental brainstem defects, hereditary anemias, sudden infant death syndrome, and congenital myopathies. Dr. Beggs has been a standing and ad hoc member of numerous NIH study sections and grant reviewer for the Muscular Dystrophy Association and March of Dimes. He is a member of several scientific advisory boards and boards of directors for nonprofit and commercial entities.

Publications

Family genetic risk communication and reverse cascade testing in the BabySeq project. Genet Med. 2024 Dec 24; 27(3):101350. View Abstract
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study. Neurology. 2025 Jan 14; 104(1):e210106. View Abstract
High resolution kinematic approach for quantifying impaired mobility of dystrophic zebrafish larvae. bioRxiv. 2024 Dec 09. View Abstract
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Abstract
Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy - meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America. Orphanet J Rare Dis. 2024 Nov 26; 19(1):438. View Abstract
Genotype?phenotype correlation in recessive DNAJB4 myopathy. Acta Neuropathol Commun. 2024 Oct 28; 12(1):171. View Abstract
Genotype-phenotype correlation in recessive DNAJB4 myopathy. Res Sq. 2024 Oct 14. View Abstract
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions. medRxiv. 2024 Oct 04. View Abstract
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants. Genes (Basel). 2024 Aug 06; 15(8). View Abstract
The expanding clinical and genetic spectrum of DYNC1H1-related disorders. Brain. 2024 Jun 08. View Abstract
Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 Jun 06; 390(21):1985-1997. View Abstract
Integrated multi-omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex. J Cachexia Sarcopenia Muscle. 2024 Jun; 15(3):1003-1015. View Abstract
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. Am J Hum Genet. 2024 05 02; 111(5):863-876. View Abstract
Titin copy number variations associated with dominant inherited phenotypes. J Med Genet. 2024 Mar 21; 61(4):369-377. View Abstract
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nat Genet. 2024 Mar; 56(3):395-407. View Abstract
Zebrafish and cellular models of SELENON-Related Myopathy exhibit novel embryonic and metabolic phenotypes. bioRxiv. 2024 Feb 26. View Abstract
KBTBD13 is an actin-binding protein that modulates muscle kinetics. J Clin Invest. 2024 Feb 01; 134(3). View Abstract
High number of candidate gene variants are identified as disease-causing in a period of 4?years. Am J Med Genet A. 2024 05; 194(5):e63509. View Abstract
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial. EBioMedicine. 2024 Jan; 99:104894. View Abstract
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial. Lancet Neurol. 2023 12; 22(12):1125-1139. View Abstract
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. medRxiv. 2023 Oct 05. View Abstract
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv. 2023 Aug 13. View Abstract
Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States. Orphanet J Rare Dis. 2023 06 06; 18(1):138. View Abstract
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. Am J Hum Genet. 2023 07 06; 110(7):1034-1045. View Abstract
Adenylosuccinic Acid: An Orphan Drug with Untapped Potential. Pharmaceuticals (Basel). 2023 May 31; 16(6). View Abstract
Optimizing assays of zebrafish larvae swimming performance for drug discovery. Expert Opin Drug Discov. 2023 06; 18(6):629-641. View Abstract
Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complex. bioRxiv. 2023 Apr 24. View Abstract
X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant. Bone. 2023 07; 172:116763. View Abstract
Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants. Genes (Basel). 2023 03 23; 14(4). View Abstract
Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations. Am J Physiol Cell Physiol. 2023 03 01; 324(3):C769-C776. View Abstract
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders. Eur J Hum Genet. 2023 06; 31(6):712-715. View Abstract
Genetic Predisposition to Neurological Complications in Patients with COVID-19. Biomolecules. 2023 01 09; 13(1). View Abstract
Parents' decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project. Genet Med. 2023 03; 25(3):100002. View Abstract
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. Adv Genet (Hoboken). 2023 Mar; 4(1):2200013. View Abstract
Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy. Neurol Genet. 2022 Dec; 8(6):e200027. View Abstract
Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder. Am J Psychiatry. 2022 11 01; 179(11):853-861. View Abstract
X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition. Acta Neuropathol. 2022 09; 144(3):537-563. View Abstract
Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study. Front Genet. 2022; 13:867371. View Abstract
Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19. iScience. 2022 Feb 18; 25(2):103760. View Abstract
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy. J Neuromuscul Dis. 2022; 9(4):503-516. View Abstract
Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial. JAMA Pediatr. 2021 11 01; 175(11):1132-1141. View Abstract
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases. Genome Med. 2021 10 14; 13(1):153. View Abstract
Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species. Cell. 2021 09 16; 184(19):4919-4938.e22. View Abstract
Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression. J Genet Couns. 2022 02; 31(1):218-229. View Abstract
Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice. Hum Mol Genet. 2021 06 26; 30(14):1305-1320. View Abstract
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders. HGG Adv. 2021 Jul; 2(3). View Abstract
Costs and health resource use in patients with X-linked myotubular myopathy: insights from US commercial claims. J Manag Care Spec Pharm. 2021 Aug; 27(8):1019-1026. View Abstract
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genet Med. 2021 07; 23(7):1372-1375. View Abstract
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study. J Med Internet Res. 2021 03 16; 23(3):e21023. View Abstract
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021 06; 23(6):1028-1040. View Abstract
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021 05; 26(5):1706-1718. View Abstract
Sarcomeres regulate murine cardiomyocyte maturation through MRTF-SRF signaling. Proc Natl Acad Sci U S A. 2021 01 12; 118(2). View Abstract
A Cross-Sectional Study of Nemaline Myopathy. Neurology. 2021 03 09; 96(10):e1425-e1436. View Abstract
Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy. J Neuromuscul Dis. 2021; 8(6):1047-1061. View Abstract
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 01; 185(1):119-133. View Abstract
Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials. Ann Clin Transl Neurol. 2020 11; 7(11):2288-2296. View Abstract
Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype. Hum Mol Genet. 2020 07 29; 29(12):1996-2003. View Abstract
Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020 Jul 06; 5(1):29. View Abstract
Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29. View Abstract
AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature. Sci Transl Med. 2020 05 20; 12(544). View Abstract
Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing. Value Health. 2020 05; 23(5):559-565. View Abstract
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians. Ann Neurol. 2020 04; 87(4):568-583. View Abstract
KBTBD13 is an actin-binding protein that modulates muscle kinetics. J Clin Invest. 2020 02 03; 130(2):754-767. View Abstract
Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genet Med. 2020 Feb; 22(2):449. View Abstract
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Ann Neurol. 2020 02; 87(2):217-232. View Abstract
FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. NPJ Genom Med. 2019; 4:32. View Abstract
FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. NPJ Genom Med. 2019 Dec 10; 4(1):32. View Abstract
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med. 2020 04; 22(4):736-744. View Abstract
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652. View Abstract
Rpl5-Inducible Mouse Model for Studying Diamond-Blackfan Anemia. Discoveries (Craiova). 2019 Sep 30; 7(3):e96. View Abstract
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genet Med. 2020 02; 22(2):371-380. View Abstract
Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. Arch Dis Child. 2020 04; 105(4):332-338. View Abstract
MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing. Cold Spring Harb Mol Case Stud. 2019 08; 5(4). View Abstract
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405. View Abstract
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies. Hum Mutat. 2019 07; 40(7):962-974. View Abstract
The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution. Dev Cell. 2019 04 08; 49(1):10-29. View Abstract
The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2019 Feb 07; 104(2):356. View Abstract
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. Am J Hum Genet. 2019 01 03; 104(1):76-93. View Abstract
Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project. Pediatrics. 2019 01; 143(Suppl 1):S6-S13. View Abstract
Challenging the Current Recommendations for Carrier Testing in Children. Pediatrics. 2019 01; 143(Suppl 1):S27-S32. View Abstract
Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project. Pediatrics. 2019 01; 143(Suppl 1):S37-S43. View Abstract
Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens. J Neuromuscul Dis. 2019; 6(3):271-287. View Abstract
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. Am J Med Genet A. 2018 12; 176(12):2768-2776. View Abstract
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. Genet Med. 2019 07; 21(7):1585-1593. View Abstract
The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2018 12 06; 103(6):930-947. View Abstract
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. BMC Med Genet. 2018 11 13; 19(1):197. View Abstract
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genet Med. 2019 03; 21(3):622-630. View Abstract
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Cold Spring Harb Mol Case Stud. 2018 08; 4(4). View Abstract
The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 07 09; 18(1):225. View Abstract
Expanding the phenotypic spectrum associated with OPHN1 variants. Eur J Med Genet. 2019 Feb; 62(2):137-143. View Abstract
An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish. PLoS One. 2018; 13(6):e0199712. View Abstract
De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. Mol Genet Metab Rep. 2018 Sep; 16:23-29. View Abstract
Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol. 2018 06; 83(6):1105-1124. View Abstract
SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling. Hum Mol Genet. 2018 05 01; 27(9):1608-1617. View Abstract
Sarcomeric and nonmuscle a-actinin isoforms exhibit differential dynamics at skeletal muscle Z-lines. Cytoskeleton (Hoboken). 2018 05; 75(5):213-228. View Abstract
RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes. PLoS Genet. 2018 03; 14(3):e1007226. View Abstract
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3). Ann Neurol. 2018 02; 83(2):269-282. View Abstract
A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study. Muscle Nerve. 2018 04; 57(4):550-560. View Abstract
Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. Hum Mol Genet. 2017 09 15; 26(18):3545-3552. View Abstract
A natural history study of X-linked myotubular myopathy. Neurology. 2017 Sep 26; 89(13):1355-1364. View Abstract
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Rep. 2018; 39:45-54. View Abstract
Long-term effects of systemic gene therapy in a canine model of myotubular myopathy. Muscle Nerve. 2017 Nov; 56(5):943-953. View Abstract
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017 04 19; 9(386). View Abstract
A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop. J Clin Neuromuscul Dis. 2017 Mar; 18(3):147-151. View Abstract
AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a001560. View Abstract
Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs. Mol Ther. 2017 04 05; 25(4):839-854. View Abstract
Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors. Sci Transl Med. 2017 02 08; 9(376). View Abstract
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. Muscle Nerve. 2017 05; 55(5):761-765. View Abstract
Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb; 139(2). View Abstract
A curated gene list for reporting results of newborn genomic sequencing. Genet Med. 2017 07; 19(7):809-818. View Abstract
Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy. Physiol Genomics. 2016 11 01; 48(11):850-860. View Abstract
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Cold Spring Harb Mol Case Stud. 2016 Sep; 2(5):a001008. View Abstract
SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Pediatr Neurol. 2016 11; 64:77-79. View Abstract
Mutation-specific effects on thin filament length in thin filament myopathy. Ann Neurol. 2016 06; 79(6):959-69. View Abstract
Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy. Am J Pathol. 2016 06; 186(6):1568-81. View Abstract
Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study. PLoS One. 2016; 11(4):e0153597. View Abstract
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. Am J Med Genet A. 2016 May; 170A(5):1165-73. View Abstract
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons. J Neuropathol Exp Neurol. 2016 Feb; 75(2):102-10. View Abstract
Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice. J Cancer. 2016; 7(1):32-6. View Abstract
Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs. Ann Transl Med. 2015 Oct; 3(17):257. View Abstract
Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy. Ann Transl Med. 2015 Oct; 3(18):262. View Abstract
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. 2016 Jan; 17(1):11-6. View Abstract
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. Hum Mol Genet. 2015 Nov 15; 24(22):6278-92. View Abstract
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. JAMA Neurol. 2015 Jun; 72(6):689-98. View Abstract
Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene. Skelet Muscle. 2015; 5:12. View Abstract
Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration. PLoS One. 2015; 10(4):e0123829. View Abstract
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. J Clin Endocrinol Metab. 2015 May; 100(5):1723-30. View Abstract
X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene. Skelet Muscle. 2015; 5(1):1. View Abstract
Clinical phenotype of X-linked myotubular myopathy in Labrador Retriever puppies. J Vet Intern Med. 2015 Jan; 29(1):254-60. View Abstract
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest. 2015 Jan; 125(1):456-7. View Abstract
Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement. J Neuromuscul Dis. 2015; 2(1):87-92. View Abstract
Mutation update: the spectra of nebulin variants and associated myopathies. Hum Mutat. 2014 Dec; 35(12):1418-26. View Abstract
Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings. JAMA Neurol. 2014 Nov; 71(11):1413-20. View Abstract
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest. 2014 Nov; 124(11):4693-708. View Abstract
Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X-linked myotubular myopathy. Muscle Nerve. 2014 Oct; 50(4):607-9. View Abstract
Gait characteristics in a canine model of X-linked myotubular myopathy. J Neurol Sci. 2014 Nov 15; 346(1-2):221-6. View Abstract
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet. 2014 Aug 07; 95(2):218-26. View Abstract
Biomarker-based treatment selection in early-stage rectal cancer to promote organ preservation. Br J Surg. 2014 Sep; 101(10):1299-309. View Abstract
Tissue triage and freezing for models of skeletal muscle disease. J Vis Exp. 2014 Jul 15; (89). View Abstract
Altered translation of GATA1 in Diamond-Blackfan anemia. Nat Med. 2014 Jul; 20(7):748-53. View Abstract
Kelch proteins: emerging roles in skeletal muscle development and diseases. Skelet Muscle. 2014; 4:11. View Abstract
Novel mutations widen the phenotypic spectrum of slow skeletal/ß-cardiac myosin (MYH7) distal myopathy. Hum Mutat. 2014 Jul; 35(7):868-79. View Abstract
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. Hum Mutat. 2014 Jul; 35(7):779-90. View Abstract
Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice. Am J Pathol. 2014 Jun; 184(6):1831-42. View Abstract
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15(3):R53. View Abstract
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. Eur J Hum Genet. 2014 Oct; 22(10):1229-32. View Abstract
Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy. Hum Mol Genet. 2014 Jul 01; 23(13):3566-78. View Abstract
Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. Sci Transl Med. 2014 Jan 22; 6(220):220ra10. View Abstract
Analysis of skeletal muscle defects in larval zebrafish by birefringence and touch-evoke escape response assays. J Vis Exp. 2013 Dec 13; (82):e50925. View Abstract
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet. 2013 Dec 05; 93(6):1108-17. View Abstract
Approach to the diagnosis of congenital myopathies. Neuromuscul Disord. 2014 Feb; 24(2):97-116. View Abstract
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. Eur J Med Genet. 2013 Dec; 56(12):678-82. View Abstract
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013 Oct 01; 81(14):1205-14. View Abstract
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum Genet. 2013 Nov; 132(11):1265-74. View Abstract
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. PLoS Genet. 2013 Jun; 9(6):e1003583. View Abstract
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet. 2013 Jul 11; 93(1):6-18. View Abstract
Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. Brain. 2013 Jun; 136(Pt 6):1718-31. View Abstract
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. J Med Genet. 2013 Jun; 50(6):383-92. View Abstract
Selenoprotein N deficiency in mice is associated with abnormal lung development. FASEB J. 2013 Apr; 27(4):1585-99. View Abstract
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. Hum Mol Genet. 2013 Apr 15; 22(8):1525-38. View Abstract
Large duplication in MTM1 associated with myotubular myopathy. Neuromuscul Disord. 2013 Mar; 23(3):214-8. View Abstract
Muscle function in a canine model of X-linked myotubular myopathy. Muscle Nerve. 2012 Oct; 46(4):588-91. View Abstract
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet. 2012 Sep 07; 91(3):541-7. View Abstract
A splice site mutation in laminin-a2 results in a severe muscular dystrophy and growth abnormalities in zebrafish. PLoS One. 2012; 7(8):e43794. View Abstract
Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. Am J Pathol. 2012 Sep; 181(3):961-8. View Abstract
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Am J Hum Genet. 2012 Aug 10; 91(2):365-71. View Abstract
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest. 2012 Jul; 122(7):2439-43. View Abstract
Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. Dis Model Mech. 2012 Nov; 5(6):852-9. View Abstract
Clinical utility gene card for: Centronuclear and myotubular myopathies. Eur J Hum Genet. 2012 Oct; 20(10). View Abstract
Congenital myopathy caused by a novel missense mutation in the CFL2 gene. Neuromuscul Disord. 2012 Jul; 22(7):632-9. View Abstract
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. Hum Mutat. 2012 Jul; 33(7):1037-44. View Abstract
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat. 2012 Jun; 33(6):949-59. View Abstract
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 2012 May; 13(2):115-24. View Abstract
Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance. Hum Mol Genet. 2012 May 15; 21(10):2341-56. View Abstract
a-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by a-actinin-3 revealing functional differences between sarcomeric isoforms. FASEB J. 2012 May; 26(5):1892-908. View Abstract
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. Hum Mol Genet. 2012 Feb 15; 21(4):811-25. View Abstract
Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy. Skelet Muscle. 2011 Jun 20; 1(1):23. View Abstract
Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML. Blood. 2011 Jul 28; 118(4):903-15. View Abstract
Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. Hum Mol Genet. 2011 May 15; 20(10):2015-25. View Abstract
The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies. Hum Mol Genet. 2011 May 01; 20(9):1712-25. View Abstract
Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice. Am J Pathol. 2011 Feb; 178(2):784-93. View Abstract
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J Clin Invest. 2011 Jan; 121(1):70-85. View Abstract
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Hum Mutat. 2010 Dec; 31(12):1269-79. View Abstract
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proc Natl Acad Sci U S A. 2010 Aug 17; 107(33):14697-702. View Abstract
Functional muscle analysis of the Tcap knockout mouse. Hum Mol Genet. 2010 Jun 01; 19(11):2268-83. View Abstract
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. Hum Mutat. 2010 Feb; 31(2):176-83. View Abstract
Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction. Biochemistry. 2010 Jan 12; 49(1):166-78. View Abstract
Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population. Pediatr Res. 2009 Dec; 66(6):631-5. View Abstract
Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). J Struct Biol. 2010 May; 170(2):334-43. View Abstract
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A. 2009 Nov 03; 106(44):18763-8. View Abstract
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. BMC Genet. 2009 Oct 18; 10:66. View Abstract
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat. 2009 Sep; 30(9):1267-77. View Abstract
Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis. Muscle Nerve. 2009 Jun; 39(6):739-53. View Abstract
Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. Hum Mol Genet. 2009 Jul 01; 18(13):2359-69. View Abstract
The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. Neuromuscul Disord. 2009 Mar; 19(3):179-81. View Abstract
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet. 2008 Dec; 83(6):769-80. View Abstract
Acute appendicitis is characterized by a uniform and highly selective pattern of inflammatory gene expression. Mucosal Immunol. 2008 Jul; 1(4):297-308. View Abstract
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood. 2008 Sep 01; 112(5):1582-92. View Abstract
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum Mol Genet. 2008 Jul 15; 17(14):2132-43. View Abstract
Dynamic regulation of endothelial NOS mediated by competitive interaction with alpha-actinin-4 and calmodulin. FASEB J. 2008 May; 22(5):1450-7. View Abstract
Type I interferon-inducible gene expression in blood is present and reflects disease activity in dermatomyositis and polymyositis. Arthritis Rheum. 2007 Nov; 56(11):3784-92. View Abstract
Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A. 2007 Oct 23; 104(43):17016-21. View Abstract
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. Neuromuscul Disord. 2007 Jul; 17(7):562-8. View Abstract
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet. 2007 Jan; 80(1):162-7. View Abstract
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet. 2006 Dec; 79(6):1110-8. View Abstract
Multiple serotonergic brainstem abnormalities in sudden infant death syndrome. JAMA. 2006 Nov 01; 296(17):2124-32. View Abstract
Selenoproteins and their impact on human health through diverse physiological pathways. Physiology (Bethesda). 2006 Oct; 21:307-15. View Abstract
Skeletal muscle repair in a mouse model of nemaline myopathy. Hum Mol Genet. 2006 Sep 01; 15(17):2603-12. View Abstract
Melanoma cell adhesion molecule is a novel marker for human fetal myogenic cells and affects myoblast fusion. J Cell Sci. 2006 Aug 01; 119(Pt 15):3117-27. View Abstract
Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia. Stem Cells. 2006 Sep; 24(9):2034-44. View Abstract
Multiplex PCR for identifying DMD gene deletions. Curr Protoc Hum Genet. 2006 May; Chapter 9:Unit 9.3. View Abstract
Adult-onset nemaline myopathy and monoclonal gammopathy. Arch Neurol. 2006 Jan; 63(1):132-4. View Abstract
Evidence by molecular profiling for a placental origin of infantile hemangioma. Proc Natl Acad Sci U S A. 2005 Dec 27; 102(52):19097-102. View Abstract
The influence of muscle type and dystrophin deficiency on murine expression profiles. Mamm Genome. 2005 Oct; 16(10):739-48. View Abstract
Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet. 2005 Nov; 37(11):1207-9. View Abstract
Variations in gene expression among different types of human skeletal muscle. Muscle Nerve. 2005 Oct; 32(4):483-91. View Abstract
X-linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol. 2005 Jul; 64(7):555-64. View Abstract
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A. 2005 Jun 07; 102(23):8089-96; discussion 8086-8. View Abstract
Side population cells isolated from different tissues share transcriptome signatures and express tissue-specific markers. Exp Cell Res. 2005 Feb 15; 303(2):360-74. View Abstract
111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands. Neuromuscul Disord. 2004 Nov; 14(11):754-66. View Abstract
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. Br J Haematol. 2004 Oct; 127(1):105-13. View Abstract
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscul Disord. 2004 Sep; 14(8-9):461-70. View Abstract
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann Neurol. 2004 Jul; 56(1):86-96. View Abstract
Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression. Neurobiol Dis. 2004 Apr; 15(3):590-600. View Abstract
Transcriptional profile of postmortem skeletal muscle. Physiol Genomics. 2004 Jan 15; 16(2):222-8. View Abstract
Expression profiling and identification of novel genes involved in myogenic differentiation. FASEB J. 2004 Feb; 18(2):403-5. View Abstract
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord. 2003 Sep; 13(7-8):519-31. View Abstract
ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet. 2003 Sep; 73(3):627-31. View Abstract
Reproducibility of gene expression across generations of Affymetrix microarrays. BMC Bioinformatics. 2003 Jun 25; 4:27. View Abstract
Gene expression profiling of Duchenne muscular dystrophy skeletal muscle. Neurogenetics. 2003 Aug; 4(4):163-71. View Abstract
Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle. Proc Natl Acad Sci U S A. 2003 Apr 15; 100(8):4666-71. View Abstract
Rod distribution and muscle fiber type modification in the progression of nemaline myopathy. J Child Neurol. 2003 Mar; 18(3):235-40. View Abstract
Clinical course correlates poorly with muscle pathology in nemaline myopathy. Neurology. 2003 Feb 25; 60(4):665-73. View Abstract
Deficiency of muscle alpha-actinin-3 is compatible with high muscle performance. J Mol Neurosci. 2003 Feb; 20(1):39-42. View Abstract
Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle. J Neurol Sci. 2003 Jan 15; 206(1):71-8. View Abstract
Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle. Proc Natl Acad Sci U S A. 2002 Nov 12; 99(23):15000-5. View Abstract
Molecular profiles of inflammatory myopathies. Neurology. 2002 Oct 22; 59(8):1170-82. View Abstract
Telethonin protein expression in neuromuscular disorders. Biochim Biophys Acta. 2002 Oct 09; 1588(1):33-40. View Abstract
Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. Neurology. 2002 Aug 27; 59(4):613-7. View Abstract
Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science. 2002 Aug 23; 297(5585):1333-6. View Abstract
Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease. Eur J Ophthalmol. 2002 Jul-Aug; 12(4):253-61. View Abstract
Nemaline myopathy: a clinical study of 143 cases. Ann Neurol. 2001 Sep; 50(3):312-20. View Abstract
Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments. Trends Mol Med. 2001 Aug; 7(8):362-8. View Abstract
Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3. BMC Genet. 2001; 2:8. View Abstract
Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. Hum Mol Genet. 2001 Jun 15; 10(13):1335-46. View Abstract
Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease. Blood. 2001 Apr 01; 97(7):2145-50. View Abstract
Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. Proc Natl Acad Sci U S A. 2001 Feb 13; 98(4):1595-600. View Abstract
Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation. 2001 Jan 02; 103(1):89-95. View Abstract
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet. 2000 Mar; 24(3):251-6. View Abstract
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Neuromuscul Disord. 1999 Dec; 9(8):564-72. View Abstract
Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations. Am J Med Genet. 1999 Oct 29; 86(5):470-6. View Abstract
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet. 1999 Oct; 23(2):208-12. View Abstract
alpha-actinin-2 is a new component of the dystrophin-glycoprotein complex. Arch Biochem Biophys. 1999 May 15; 365(2):216-22. View Abstract
Human neuropilin-1 and neuropilin-2 map to 10p12 and 2q34, respectively. Genomics. 1999 May 01; 57(3):459-60. View Abstract
A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nat Genet. 1999 Apr; 21(4):353-4. View Abstract
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A. 1999 Mar 02; 96(5):2305-10. View Abstract
Molecular genetics of long-QT syndrome. Curr Opin Pediatr. 1998 Dec; 10(6):628-34. View Abstract
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. Am J Hum Genet. 1998 Aug; 63(2):517-25. View Abstract
Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo. Biochem Biophys Res Commun. 1998 Jul 09; 248(1):134-9. View Abstract
Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. Hum Genet. 1998 Mar; 102(3):265-72. View Abstract
Differential regional expression and ultrastructural localization of alpha-actinin-2, a putative NMDA receptor-anchoring protein, in rat brain. J Neurosci. 1998 Feb 15; 18(4):1383-92. View Abstract
51st ENMC International Workshop: Nemaline Myopathy. 13-15 June 1997, Naarden, The Netherlands. Neuromuscul Disord. 1998 Feb; 8(1):53-6. View Abstract
Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. Circulation. 1998 Jan 20; 97(2):142-6. View Abstract
The concomitant use of dystrophin and utrophin/dystrophin related protein antibodies to reduce misdiagnosis of Duchenne/Becker muscular dystrophy. Biochem Biophys Res Commun. 1997 Dec 18; 241(2):232-5. View Abstract
Deficiency of alpha-actinin-3 (ACTN3) occurs in different forms of muscular dystrophy. Neuropediatrics. 1997 Aug; 28(4):223-8. View Abstract
Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. Circulation. 1997 May 20; 95(10):2344-7. View Abstract
A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1. Am J Hum Genet. 1997 May; 60(5):1150-7. View Abstract
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol. 1997 Mar; 41(3):314-25. View Abstract
Competitive binding of alpha-actinin and calmodulin to the NMDA receptor. Nature. 1997 Jan 30; 385(6615):439-42. View Abstract
The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5. Genomics. 1996 Dec 15; 38(3):405-17. View Abstract
Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy. Neuromuscul Disord. 1996 Aug; 6(4):229-35. View Abstract
Congenital muscular dystrophy associated with merosin deficiency. J Child Neurol. 1996 Jul; 11(4):291-5. View Abstract
Microsatellite instability analysis of primary human brain tumors. Oncogene. 1996 Apr 04; 12(7):1417-23. View Abstract
Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy. Neurology. 1996 Feb; 46(2):461-5. View Abstract
Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet. 1995 Nov; 57(5):1086-94. View Abstract
A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin. Neuromuscul Disord. 1995 Sep; 5(5):429-38. View Abstract
Analysis of meningiomas by methylation- and transcription-based clonality assays. Cancer Res. 1995 Sep 01; 55(17):3865-72. View Abstract
Novel actin crosslinker superfamily member identified by a two step degenerate PCR procedure. FEBS Lett. 1995 Jul 24; 368(3):500-4. View Abstract
Isoform cloning, actin binding, and chromosomal localization of human erythroid dematin, a member of the villin superfamily. J Biol Chem. 1995 Jul 21; 270(29):17407-13. View Abstract
Expression of the myelin basic protein gene in transgenic mice expressing human neurotropic virus, JCV, early protein. Virology. 1994 Jul; 202(1):89-96. View Abstract
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet. 1994 May; 7(1):69-73. View Abstract
Human pituitary adenomas show no loss of heterozygosity at the retinoblastoma gene locus. J Clin Endocrinol Metab. 1994 Apr; 78(4):922-7. View Abstract
Exclusion of two candidate loci for autosomal recessive nemaline myopathy. J Med Genet. 1994 Jan; 31(1):79-80. View Abstract
Dystrophin analysis in idiopathic dilated cardiomyopathy. J Med Genet. 1993 Nov; 30(11):955-7. View Abstract
Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation? Am J Med Genet. 1993 Apr 15; 46(2):172-5. View Abstract
Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy. Pediatr Neurol. 1992 Nov-Dec; 8(6):432-6. View Abstract
Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions. Am J Med Genet. 1992 Oct 01; 44(3):378-81. View Abstract
A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1. Genomics. 1992 Aug; 13(4):1314-5. View Abstract
Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. J Biol Chem. 1992 May 05; 267(13):9281-8. View Abstract
Differential glucocorticoid effects on the fusion of Duchenne/Becker and control muscle cultures: pharmacologic detection of accelerated aging in dystrophic muscle. Neurology. 1992 May; 42(5):1085-91. View Abstract
Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I. Am J Hum Genet. 1992 Mar; 50(3):576-83. View Abstract
ELISA quantitation of dystrophin for the diagnosis of Duchenne and Becker muscular dystrophies. Neurology. 1992 Mar; 42(3 Pt 1):570-6. View Abstract
Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. Proc Natl Acad Sci U S A. 1992 Jan 15; 89(2):623-7. View Abstract
Early onset autosomal dominant progressive muscular dystrophy presenting in childhood as a Becker phenotype--the importance of dystrophin and molecular genetic analysis. Neuromuscul Disord. 1992; 2(2):121-4. View Abstract
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet. 1991 Jul; 49(1):54-67. View Abstract
Dystrophin is transcribed in brain from a distant upstream promoter. Proc Natl Acad Sci U S A. 1991 Feb 15; 88(4):1276-80. View Abstract
Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy. J Neurol Sci. 1991 Feb; 101(2):148-56. View Abstract
Muscular dystrophy research: what have we learned and where do we go from here? Res Publ Assoc Res Nerv Ment Dis. 1991; 69:121-7. View Abstract
Defective dystrophin in Duchenne and Becker dystrophy myotubes in cell culture. Neurology. 1990 Dec; 40(12):1854-8. View Abstract
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet. 1990 Nov; 86(1):45-8. View Abstract
Enormous dystrophin in a patient with Becker muscular dystrophy. Neurology. 1990 May; 40(5):808-12. View Abstract
A polymorphic CACA repeat in the 3' untranslated region of dystrophin. Nucleic Acids Res. 1990 Apr 11; 18(7):1931. View Abstract
Improved diagnosis of Duchenne/Becker muscular dystrophy. J Clin Invest. 1990 Mar; 85(3):613-9. View Abstract
Cell type-specific expression of JC virus T antigen in primary and established cell lines from transgenic mice. J Gen Virol. 1990 Jan; 71 ( Pt 1):151-64. View Abstract
Cross-reactive protein in Duchenne muscle. Lancet. 1989 Nov 18; 2(8673):1211-2. View Abstract
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet. 1989 Oct; 45(4):498-506. View Abstract
Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis. Clin Chem. 1989 Jul; 35(7 Suppl):B21-4. View Abstract
Chromatin loop structure of the human X chromosome: relevance to X inactivation and CpG clusters. Mol Cell Biol. 1989 Jun; 9(6):2322-31. View Abstract
Extinction of JC virus tumor-antigen expression in glial cell--fibroblast hybrids. Proc Natl Acad Sci U S A. 1988 Oct; 85(20):7632-6. View Abstract
Effect of ageing on reactivation of the human X-linked HPRT locus. Nature. 1988 Sep 01; 335(6185):93-6. View Abstract
Reactivation of X-linked genes in human fibroblasts transformed by origin-defective SV40. Somat Cell Mol Genet. 1986 Nov; 12(6):585-94. View Abstract
Serum-free selection of onc genes. Gene Amplif Anal. 1986; 4:177-95. View Abstract

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