Research Overview

The Ebrahimi-Fakhari lab is committed to understanding the molecular underpinnings of genetic childhood-onset movement disorders. By doing so, we strive to pave the way for the development of novel therapies for rare diseases, encompassing both small molecules and gene-based approaches.

Our approach to research is truly translational, as we merge two fundamental programs. Firstly, our clinical research program is dedicated to delineating the genetic foundations of childhood-onset movement disorders and neurodegenerative diseases. Through comprehensive clinical studies, we not only identify the genetic roots of these conditions but also prepare the groundwork for clinical trials. Our natural history studies and biomarker discovery efforts ensure clinical trial readiness, while simultaneously establishing a robust infrastructure for first-in-human and later phase pivotal clinical investigations. Secondly, our basic science research program investigates the cellular biology and mechanisms underlying neurodegeneration in childhood-onset movement disorders. We employ a multidisciplinary approach, integrating genetics, biochemistry, cell biology, pharmacology, high-throughput microscopy, and disease modeling. Through the utilization of cutting-edge techniques and model organisms such as human cell lines, induced pluripotent stem cell-derived neurons, transgenic zebrafish and mice, we aim to shed light on the complex processes underlying neurogenetic diseases. At our lab, we are passionate about bridging the gap between scientific discoveries and tangible clinical applications. Our ultimate goal is to improve the lives of children affected by neurogenetic disorders through the development of innovative and effective therapies.

The translational research in the Ebrahimi-Fakhari work is closely aligned with the clinical care of children and young adults in the Boston Children’s Hospital Movement Disorders Program and the Movement Disorders & Neurogenetics Fellowship Program.

Some of the current funded research projects in the lab include:

  • A Translational Research Platform for Childhood-Onset Hereditary Spastic Paraplegia
  • An International Registry and Natural History Study for Early-Onset Hereditary Spastic Paraplegia [ClinicalTrials.gov Identifier: NCT04712812]
  • The Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq) [ClinicalTrials.gov Identifier: NCT05354622]
  • Development of a Translational Research Platform to Understand and Treat Defective Protein Trafficking in Childhood-Onset Hereditary Spastic Paraplegia
  • Functional Genomic Screen To Identify Novel Therapeutic Targets For Childhood-Onset Hereditary Spastic Paraplegia
  • An Unbiased Phenotypic Screen for Novel Therapeutic Targets in AP-4-associated HSP
  • Using Primary Fibroblasts and iPSC-Derived Neurons from Patients with AP-4-associated Hereditary Spastic Paraplegia to Support an Unbiased Autophagy-based Phenotypic Screening for Novel Therapeutic Targets
  • Characterization of ap4b1-/- zebrafish as a novel in vivo model of SPG47 and its application in small molecule screens
  • Development and Characterization of a Novel In Vivo Model of BPAN Using CRISPR/Cas9-based Knockout of wdr45 in Zebrafish
  • Investigating the effect of chronic treatment with small molecule modulators of protein trafficking on biochemical, morphological and behavioral phenotypes in Ap4b1 knockout mice

Research Background

Darius Ebrahimi-Fakhari, M.D., Ph.D., is a Child Neurologist and Neuroscientist with special expertise in childhood-onset neurogenetic, neurodegenerative, and movement disorders. He serves the Director of the Movement Disorders Program and the Movement Disorders and Neurogenetic Fellowship Program. As a physician-scientist, the objective of his research is to understand the genetic and molecular mechanisms of childhood-onset movement disorders, and to use this knowledge to develop novel therapeutic approaches to treat and cure a variety of neurological diseases. Dr. Ebrahimi-Fakhari received his M.D. and Ph.D. degrees from the Ruprecht Karl University of Heidelberg, Germany.

After graduating, he trained in Pediatrics at Heidelberg University Hospital before returning to neuroscience research as a postdoctoral research fellow at the F.M. Kirby Neurobiology Center and the Department of Neurology at Boston Children’s Hospital, to study mechanisms of protein trafficking and degradation in neurons. After additional residency training in Pediatrics and Child Neurology at Boston Children’s Hospital and the Harvard Neurology Program, he completed a clinical fellowship in Movement Disorders at Boston Children’s Hospital and Massachusetts General Hospital.

Over the last years, Dr. Ebrahimi-Fakhari’s team has built a translational research program for childhood-onset movement disorders and neurodegenerative diseases. He has been awarded the Outstanding Junior Member Award from the Child Neurology Society three times, in 2016, 2019 and 2021, the Outstanding Investigator Award from the German Society for Pediatric Neurology in 2017, and the Young Physician Scientist Award from the American Society of Clinical Investigation in 2023.

Work in the Ebrahimi-Fakhari lab has been supported the NIH/NINDS, the Spastic Paraplegia Foundation, Thrasher Research Foundation, CureAP4 Foundation, CureSPG50 Foundation, Tom-Wahlig Foundation, The Manton Center for Orphan Disease Research, the BCH Office of Faculty Development, the BCH Translational Research Program the and Astellas Pharmaceuticals

Education

Graduate School

Ruprecht-Karls-University Heidelberg
2013 Heidelberg Germany

Medical School

Ruprecht-Karls-University Heidelberg
2013 Heidelberg Germany

Internship

Pediatrics Heidelberg University Hospital
2014 Heidelberg Germany

Residency

Pediatrics Boston Combined Residency Program (BCRP)
2018 Boston MA

Residency

Child Neurology Boston Children's Hospital & Harvard Neurology Program
2021 Boston MA

Fellowship

Movement Disorders Boston Children's Hospital
2022 Boston MA

Publications

  1. Heterozygous variants in AP4S1 are not associated with a neurological phenotype. Ann Clin Transl Neurol. 2025 Jan 27. View Abstract
  2. Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome. Ann Clin Transl Neurol. 2025 Jan 14. View Abstract
  3. Expanding molecular and clinical spectrum of CPT1C-associated hereditary spastic paraplegia (SPG73)-a case series. Ann Clin Transl Neurol. 2024 Dec 29. View Abstract
  4. STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy. Mov Disord Clin Pract. 2024 Dec 27. View Abstract
  5. Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations. Genet Med. 2024 Dec 25; 27(3):101349. View Abstract
  6. 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
  7. Spectrum and Evolution of Movement Disorder Phenomenology in a Pediatric Powassan Encephalitis Case Series. Mov Disord Clin Pract. 2024 Dec; 11(12):1613-1619. View Abstract
  8. An update on autophagy disorders. J Inherit Metab Dis. 2025 01; 48(1):e12798. View Abstract
  9. Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia. Mov Disord Clin Pract. 2024 Dec; 11(12):1620-1624. View Abstract
  10. Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47. EMBO Mol Med. 2024 Nov; 16(11):2882-2917. View Abstract
  11. The GENESIS database and tools: A decade of discovery in Mendelian genomics. Exp Neurol. 2024 Dec; 382:114978. View Abstract
  12. Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia. Am J Med Genet A. 2025 Feb; 197(2):e63890. View Abstract
  13. Juvenile-onset Huntington's disease - Spectrum and evolution of presenting movement disorders. Ann Clin Transl Neurol. 2024 Oct; 11(10):2805-2810. View Abstract
  14. Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes. Mov Disord Clin Pract. 2024 Sep; 11(9):1072-1084. View Abstract
  15. Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia. J Clin Invest. 2024 Jul 11; 134(17). View Abstract
  16. AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient. Nat Med. 2024 Jul; 30(7):1882-1887. View Abstract
  17. Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies. Front Neurol. 2024; 15:1403815. View Abstract
  18. The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. Ann Clin Transl Neurol. 2024 Jun; 11(6):1643-1647. View Abstract
  19. Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls. Stem Cell Res. 2024 Jun; 77:103424. View Abstract
  20. Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus. Mov Disord. 2024 Sep; 39(9):1435-1445. View Abstract
  21. Emerging therapies for childhood-onset movement disorders. Curr Opin Pediatr. 2024 06 01; 36(3):331-341. View Abstract
  22. High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia. Nat Commun. 2024 Jan 17; 15(1):584. View Abstract
  23. ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations. Neurobiol Dis. 2024 Jan; 190:106386. View Abstract
  24. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023 08 01; 146(8):3273-3288. View Abstract
  25. Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia. Mov Disord. 2023 09; 38(9):1742-1750. View Abstract
  26. High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia. Res Sq. 2023 Jun 12. View Abstract
  27. Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies. J Clin Invest. 2023 05 15; 133(10). View Abstract
  28. Deep brain stimulation for medically refractory status dystonicus in UBA5-related disorder. Mov Disord. 2023 09; 38(9):1757-1759. View Abstract
  29. The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. Brain. 2023 05 02; 146(5):2003-2015. View Abstract
  30. Reply to: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Mov Disord. 2023 05; 38(5):911-913. View Abstract
  31. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genet Med. 2023 07; 25(7):100839. View Abstract
  32. Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics. Mov Disord Clin Pract. 2023 May; 10(5):748-755. View Abstract
  33. Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder. Clin Genet. 2023 05; 103(5):566-573. View Abstract
  34. De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations. Hum Mol Genet. 2023 01 01; 32(1):93-103. View Abstract
  35. Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy. Neurol Genet. 2022 Dec; 8(6):e200041. View Abstract
  36. Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Mov Disord. 2022 12; 37(12):2440-2446. View Abstract
  37. Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants. Am J Med Genet A. 2022 12; 188(12):3531-3534. View Abstract
  38. Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis. Am J Med Genet A. 2022 09; 188(9):2590-2598. View Abstract
  39. Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update. Mov Disord. 2022 05; 37(5):905-935. View Abstract
  40. Social Deficits and Cerebellar Degeneration in Purkinje Cell Scn8a Knockout Mice. Front Mol Neurosci. 2022; 15:822129. View Abstract
  41. Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis. Ann Clin Transl Neurol. 2022 04; 9(4):570-576. View Abstract
  42. AP-4-mediated axonal transport controls endocannabinoid production in neurons. Nat Commun. 2022 02 25; 13(1):1058. View Abstract
  43. Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022 02; 9(2):193-205. View Abstract
  44. Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases. Autophagy. 2022 07; 18(7):1715-1727. View Abstract
  45. High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia. Brain Commun. 2021; 3(4):fcab221. View Abstract
  46. Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia. Neurology. 2021 11 09; 97(19):e1942-e1954. View Abstract
  47. Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course. Brain Commun. 2021; 3(3):fcab183. View Abstract
  48. Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia. Neurol Genet. 2021 Aug; 7(4):e605. View Abstract
  49. Startle Epilepsy Triggered By Maternal Cough. Neuropediatrics. 2021 08; 52(4):341-342. View Abstract
  50. Childhood-onset hereditary spastic paraplegia and its treatable mimics. Mol Genet Metab. 2022 Dec; 137(4):436-444. View Abstract
  51. Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat. 2021 06; 42(6):762-776. View Abstract
  52. Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50). Stem Cell Res. 2021 05; 53:102335. View Abstract
  53. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Autophagy. 2021 Jan; 17(1):1-382. View Abstract
  54. Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. Neurol Genet. 2021 Feb; 7(1):e544. View Abstract
  55. Correction: p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis. Cancer Res. 2020 Dec 01; 80(23):5424. View Abstract
  56. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020 10 01; 143(10):2929-2944. View Abstract
  57. Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2020 May 13; 10(1):8206. View Abstract
  58. Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52. Ann Clin Transl Neurol. 2020 04; 7(4):584-589. View Abstract
  59. Expansion of the genetic landscape of ERLIN2-related disorders. Ann Clin Transl Neurol. 2020 04; 7(4):573-578. View Abstract
  60. Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. Hum Mol Genet. 2020 01 15; 29(2):320-334. View Abstract
  61. Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47). Stem Cell Res. 2019 10; 40:101575. View Abstract
  62. Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders and Parental Stress: Findings from a National, Prospective TSC Surveillance Study. Neuropediatrics. 2019 10; 50(5):294-299. View Abstract
  63. EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome. Neuropediatrics. 2019 08; 50(4):257-261. View Abstract
  64. Correction to: Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study. Orphanet J Rare Dis. 2019 May 13; 14(1):106. View Abstract
  65. Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy. J Inherit Metab Dis. 2020 01; 43(1):51-62. View Abstract
  66. A special issue on childhood-onset movement disorders. Mov Disord. 2019 05; 34(5):595-597. View Abstract
  67. Movement Disorders in Treatable Inborn Errors of Metabolism. Mov Disord. 2019 05; 34(5):598-613. View Abstract
  68. Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study. Orphanet J Rare Dis. 2018 07 17; 13(1):117. View Abstract
  69. Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2018 Jul 03; 8(1):10294. View Abstract
  70. Resident and Fellow Section in Neuropediatrics. Neuropediatrics. 2018 08; 49(4):229-230. View Abstract
  71. Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2018 05 21; 8(1):7907. View Abstract
  72. Abnormal mTOR Activation in Autism. Annu Rev Neurosci. 2018 07 08; 41:1-23. View Abstract
  73. The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Mov Disord Clin Pract. 2018 Mar-Apr; 5(2):149-155. View Abstract
  74. Clinical and genetic characterization of AP4B1-associated SPG47. Am J Med Genet A. 2018 02; 176(2):311-318. View Abstract
  75. Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know. Neuropediatrics. 2018 02; 49(1):18-25. View Abstract
  76. [Stroke in children and adolescents]. Radiologe. 2017 Jul; 57(7):569-576. View Abstract
  77. p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis. Cancer Res. 2017 06 15; 77(12):3255-3267. View Abstract
  78. Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases. J Inherit Metab Dis. 2017 Sep; 40(5):631-640. View Abstract
  79. Combination Clearance Therapy and Barbiturate Coma for Severe Carbamazepine Overdose. Pediatrics. 2017 May; 139(5). View Abstract
  80. Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force. Mov Disord. 2017 05; 32(5):724-725. View Abstract
  81. Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. J Pediatr. 2017 06; 185:248-248.e1. View Abstract
  82. Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons. Autophagy. 2017 Apr 03; 13(4):754-756. View Abstract
  83. Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex. Cell Rep. 2016 11 15; 17(8):2162. View Abstract
  84. Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex. Cell Rep. 2016 10 18; 17(4):1053-1070. View Abstract
  85. Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic! Mov Disord. 2016 11; 31(11):1760-1762. View Abstract
  86. Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells. Hum Mol Genet. 2016 08 15; 25(16):3588-3599. View Abstract
  87. Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force. Mov Disord. 2016 Apr; 31(4):436-57. View Abstract
  88. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016 Mar; 139(Pt 3):765-81. View Abstract
  89. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 2016; 12(1):1-222. View Abstract
  90. Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. Brain. 2016 Feb; 139(Pt 2):317-37. View Abstract
  91. The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain. 2015 Dec; 138(Pt 12):3476-95. View Abstract
  92. Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy. Pediatr Neurol. 2015 Dec; 53(6):549-50. View Abstract
  93. The Stress-Induced Atf3-Gelsolin Cascade Underlies Dendritic Spine Deficits in Neuronal Models of Tuberous Sclerosis Complex. J Neurosci. 2015 Jul 29; 35(30):10762-72. View Abstract
  94. The Circadian Protein BMAL1 Regulates Translation in Response to S6K1-Mediated Phosphorylation. Cell. 2015 May 21; 161(5):1138-1151. View Abstract
  95. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. J Inherit Metab Dis. 2015 Sep; 38(5):905-14. View Abstract
  96. Tuberous sclerosis complex. Pediatr Clin North Am. 2015 Jun; 62(3):633-48. View Abstract
  97. Autism and the synapse: emerging mechanisms and mechanism-based therapies. Curr Opin Neurol. 2015 Apr; 28(2):91-102. View Abstract
  98. An 8-year old boy with continuous spikes and waves during slow sleep presenting with positive onconeuronal antibodies. Eur J Paediatr Neurol. 2015 Mar; 19(2):257-61. View Abstract
  99. Child Neurology: PRRT2-associated movement disorders and differential diagnoses. Neurology. 2014 Oct 28; 83(18):1680-3. View Abstract
  100. Parkinson's disease: A disorder of axonal mitophagy? Mov Disord. 2014 Nov; 29(13):1582. View Abstract
  101. Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features. Pediatr Neurol. 2015 Jan; 52(1):115-8. View Abstract
  102. International electives in the final year of German medical school education--a student's perspective. GMS Z Med Ausbild. 2014; 31(3):Doc26. View Abstract
  103. Chronic treatment with novel small molecule Hsp90 inhibitors rescues striatal dopamine levels but not a-synuclein-induced neuronal cell loss. PLoS One. 2014; 9(1):e86048. View Abstract
  104. Modeling Parkinson's disease in a dish--a story of yeast and men. Mov Disord. 2014 Jan; 29(1):34. View Abstract
  105. Molecular chaperones and protein folding as therapeutic targets in Parkinson's disease and other synucleinopathies. Acta Neuropathol Commun. 2013 Dec 05; 1:79. View Abstract
  106. Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases. Pediatr Res. 2014 Jan; 75(1-2):217-26. View Abstract
  107. Restoring impaired protein metabolism in Parkinson's disease--TFEB-mediated autophagy as a novel therapeutic target. Mov Disord. 2013 Sep; 28(10):1346. View Abstract
  108. Autophagy and neurodegeneration - genetic findings in SENDA syndrome, a subtype of neurodegeneration with brain iron accumulation, provide a novel link. Mov Disord. 2013 Jul; 28(8):1050. View Abstract
  109. Direct detection of alpha synuclein oligomers in vivo. Acta Neuropathol Commun. 2013 May 09; 1:6. View Abstract
  110. Proteotoxicity and cardiac dysfunction. N Engl J Med. 2013 05 02; 368(18):1754. View Abstract
  111. Familial Mediterranean fever in Germany: clinical presentation and amyloidosis risk. Scand J Rheumatol. 2013; 42(1):52-8. View Abstract
  112. Molecular chaperones and co-chaperones in Parkinson disease. Neuroscientist. 2012 Dec; 18(6):589-601. View Abstract
  113. Protein degradation pathways in Parkinson's disease: curse or blessing. Acta Neuropathol. 2012 Aug; 124(2):153-72. View Abstract
  114. Alpha-synuclein aggregation involves a bafilomycin A 1-sensitive autophagy pathway. Autophagy. 2012 May 01; 8(5):754-66. View Abstract
  115. Alpha-synuclein's degradation in vivo: opening a new (cranial) window on the roles of degradation pathways in Parkinson disease. Autophagy. 2012 Feb 01; 8(2):281-3. View Abstract
  116. Distinct roles in vivo for the ubiquitin-proteasome system and the autophagy-lysosomal pathway in the degradation of a-synuclein. J Neurosci. 2011 Oct 12; 31(41):14508-20. View Abstract
  117. Molecular chaperones in Parkinson's disease--present and future. J Parkinsons Dis. 2011; 1(4):299-320. View Abstract
  118. Studying protein degradation pathways in vivo using a cranial window-based approach. Methods. 2011 Mar; 53(3):194-200. View Abstract
  119. Clinical manifestations and longterm followup of a patient with CINCA/NOMID syndrome. J Rheumatol. 2010 Oct; 37(10):2196-7. View Abstract

Contact Darius Ebrahimi-Fakhari