Darius Ebrahimi-Fakhari

HPDL Variant Type Correlates With Clinical Disease Onset and Severity. Ann Clin Transl Neurol. 2025 May 14. View HPDL Variant Type Correlates With Clinical Disease Onset and Severity. Abstract

ap4b1 -/- zebrafish demonstrate morphological and motor abnormalities. Hum Mol Genet. 2025 04 23. View ap4b1 -/- zebrafish demonstrate morphological and motor abnormalities. Abstract

Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated. Mol Genet Metab. 2025 May; 145(1):109084. View Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated. Abstract

Arrayed CRISPR/Cas9 Loss-Of-Function Screen in a Neuronal Model of Adaptor Protein Complex 4 Deficiency Identifies Modulators of ATG9A Trafficking. bioRxiv. 2025 Feb 23. View Arrayed CRISPR/Cas9 Loss-Of-Function Screen in a Neuronal Model of Adaptor Protein Complex 4 Deficiency Identifies Modulators of ATG9A Trafficking. Abstract

The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia. Neurol Genet. 2025 Apr; 11(2):e200249. View The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia. Abstract

DBSMatchMaker: Connecting Clinicians Globally for Deep Brain Stimulation in Rare Diseases. Mov Disord. 2025 Apr; 40(4):765-767. View DBSMatchMaker: Connecting Clinicians Globally for Deep Brain Stimulation in Rare Diseases. Abstract

Heterozygous variants in AP4S1 are not associated with a neurological phenotype. Ann Clin Transl Neurol. 2025 Apr; 12(4):851-854. View Heterozygous variants in AP4S1 are not associated with a neurological phenotype. Abstract

Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome. Ann Clin Transl Neurol. 2025 Feb; 12(2):448-451. View Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome. Abstract

Expanding molecular and clinical spectrum of CPT1C-associated hereditary spastic paraplegia (SPG73)-a case series. Ann Clin Transl Neurol. 2025 Mar; 12(3):648-652. View Expanding molecular and clinical spectrum of CPT1C-associated hereditary spastic paraplegia (SPG73)-a case series. Abstract

STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy. Mov Disord Clin Pract. 2025 Apr; 12(4):533-536. View STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy. Abstract

Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations. Genet Med. 2025 Mar; 27(3):101349. View Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations. 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 Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. Abstract

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 Spectrum and Evolution of Movement Disorder Phenomenology in a Pediatric Powassan Encephalitis Case Series. Abstract

An update on autophagy disorders. J Inherit Metab Dis. 2025 01; 48(1):e12798. View An update on autophagy disorders. Abstract

Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia. Mov Disord Clin Pract. 2024 Dec; 11(12):1620-1624. View Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia. Abstract

Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47. EMBO Mol Med. 2024 Nov; 16(11):2882-2917. View Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47. Abstract

The GENESIS database and tools: A decade of discovery in Mendelian genomics. Exp Neurol. 2024 Dec; 382:114978. View The GENESIS database and tools: A decade of discovery in Mendelian genomics. Abstract

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 Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia. Abstract

Juvenile-onset Huntington's disease - Spectrum and evolution of presenting movement disorders. Ann Clin Transl Neurol. 2024 Oct; 11(10):2805-2810. View Juvenile-onset Huntington's disease - Spectrum and evolution of presenting movement disorders. Abstract

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes. Mov Disord Clin Pract. 2024 Sep; 11(9):1072-1084. View Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes. Abstract

Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia. J Clin Invest. 2024 Jul 11; 134(17). View Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia. Abstract

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 AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient. Abstract

Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies. Front Neurol. 2024; 15:1403815. View Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies. Abstract

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 The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. Abstract

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 Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls. Abstract

Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus. Mov Disord. 2024 Sep; 39(9):1435-1445. View Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus. Abstract

Emerging therapies for childhood-onset movement disorders. Curr Opin Pediatr. 2024 06 01; 36(3):331-341. View Emerging therapies for childhood-onset movement disorders. Abstract

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 High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia. Abstract

ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations. Neurobiol Dis. 2024 Jan; 190:106386. View ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations. Abstract

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023 08 01; 146(8):3273-3288. View The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Abstract

Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia. Mov Disord. 2023 09; 38(9):1742-1750. View Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia. Abstract

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 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. Abstract

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 Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies. Abstract

Deep brain stimulation for medically refractory status dystonicus in UBA5-related disorder. Mov Disord. 2023 09; 38(9):1757-1759. View Deep brain stimulation for medically refractory status dystonicus in UBA5-related disorder. Abstract

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. Brain. 2023 05 02; 146(5):2003-2015. View The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. Abstract

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 Reply to: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Abstract

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genet Med. 2023 07; 25(7):100839. View LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Abstract

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 Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics. Abstract

Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder. Clin Genet. 2023 05; 103(5):566-573. View Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder. Abstract

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 De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations. Abstract

Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy. Neurol Genet. 2022 Dec; 8(6):e200041. View Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy. Abstract

Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Mov Disord. 2022 12; 37(12):2440-2446. View Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Abstract

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 Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants. Abstract

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 Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis. Abstract

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 Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update. Abstract

Social Deficits and Cerebellar Degeneration in Purkinje Cell Scn8a Knockout Mice. Front Mol Neurosci. 2022; 15:822129. View Social Deficits and Cerebellar Degeneration in Purkinje Cell Scn8a Knockout Mice. Abstract

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis. Ann Clin Transl Neurol. 2022 04; 9(4):570-576. View Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis. Abstract

AP-4-mediated axonal transport controls endocannabinoid production in neurons. Nat Commun. 2022 02 25; 13(1):1058. View AP-4-mediated axonal transport controls endocannabinoid production in neurons. Abstract

Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022 02; 9(2):193-205. View Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Abstract

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 Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases. Abstract

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 High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia. Abstract

Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia. Neurology. 2021 11 09; 97(19):e1942-e1954. View Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia. Abstract

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 Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course. Abstract

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 Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia. Abstract

Startle Epilepsy Triggered By Maternal Cough. Neuropediatrics. 2021 08; 52(4):341-342. View Startle Epilepsy Triggered By Maternal Cough. Abstract

Childhood-onset hereditary spastic paraplegia and its treatable mimics. Mol Genet Metab. 2022 Dec; 137(4):436-444. View Childhood-onset hereditary spastic paraplegia and its treatable mimics. Abstract

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 Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Abstract

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 Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50). Abstract

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Autophagy. 2021 Jan; 17(1):1-382. View Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Abstract

Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. Neurol Genet. 2021 Feb; 7(1):e544. View Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. Abstract

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 Correction: p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis. Abstract

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 Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Abstract

Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2020 May 13; 10(1):8206. View Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Abstract

Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52. Ann Clin Transl Neurol. 2020 04; 7(4):584-589. View Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52. Abstract

Expansion of the genetic landscape of ERLIN2-related disorders. Ann Clin Transl Neurol. 2020 04; 7(4):573-578. View Expansion of the genetic landscape of ERLIN2-related disorders. Abstract

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 Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. Abstract

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 Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47). Abstract

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 Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders and Parental Stress: Findings from a National, Prospective TSC Surveillance Study. Abstract

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 EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome. Abstract

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 Correction to: Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study. Abstract

Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy. J Inherit Metab Dis. 2020 01; 43(1):51-62. View Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy. Abstract

A special issue on childhood-onset movement disorders. Mov Disord. 2019 05; 34(5):595-597. View A special issue on childhood-onset movement disorders. Abstract

Movement Disorders in Treatable Inborn Errors of Metabolism. Mov Disord. 2019 05; 34(5):598-613. View Movement Disorders in Treatable Inborn Errors of Metabolism. Abstract

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 Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study. Abstract

Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2018 Jul 03; 8(1):10294. View Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Abstract

Resident and Fellow Section in Neuropediatrics. Neuropediatrics. 2018 08; 49(4):229-230. View Resident and Fellow Section in Neuropediatrics. Abstract

Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2018 05 21; 8(1):7907. View Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Abstract

Abnormal mTOR Activation in Autism. Annu Rev Neurosci. 2018 07 08; 41:1-23. View Abnormal mTOR Activation in Autism. Abstract

The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Mov Disord Clin Pract. 2018 Mar-Apr; 5(2):149-155. View The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Abstract

Clinical and genetic characterization of AP4B1-associated SPG47. Am J Med Genet A. 2018 02; 176(2):311-318. View Clinical and genetic characterization of AP4B1-associated SPG47. Abstract

Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know. Neuropediatrics. 2018 02; 49(1):18-25. View Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know. Abstract

[Stroke in children and adolescents]. Radiologe. 2017 Jul; 57(7):569-576. View [Stroke in children and adolescents]. Abstract

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 p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis. Abstract

Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases. J Inherit Metab Dis. 2017 Sep; 40(5):631-640. View Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases. Abstract

Combination Clearance Therapy and Barbiturate Coma for Severe Carbamazepine Overdose. Pediatrics. 2017 May; 139(5). View Combination Clearance Therapy and Barbiturate Coma for Severe Carbamazepine Overdose. Abstract

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 Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force. Abstract

Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. J Pediatr. 2017 06; 185:248-248.e1. View Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. Abstract

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 Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons. Abstract

Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex. Cell Rep. 2016 11 15; 17(8):2162. View Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex. Abstract

Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex. Cell Rep. 2016 10 18; 17(4):1053-1070. View Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex. Abstract

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 Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic! Abstract

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 Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells. Abstract

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 Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force. Abstract

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016 Mar; 139(Pt 3):765-81. View EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Abstract

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 2016; 12(1):1-222. View Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Abstract

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. Brain. 2016 Feb; 139(Pt 2):317-37. View Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. Abstract

The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain. 2015 Dec; 138(Pt 12):3476-95. View The evolving spectrum of PRRT2-associated paroxysmal diseases. Abstract

Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy. Pediatr Neurol. 2015 Dec; 53(6):549-50. View Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy. Abstract

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 The Stress-Induced Atf3-Gelsolin Cascade Underlies Dendritic Spine Deficits in Neuronal Models of Tuberous Sclerosis Complex. Abstract

The Circadian Protein BMAL1 Regulates Translation in Response to S6K1-Mediated Phosphorylation. Cell. 2015 May 21; 161(5):1138-1151. View The Circadian Protein BMAL1 Regulates Translation in Response to S6K1-Mediated Phosphorylation. Abstract

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 Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. Abstract

Tuberous sclerosis complex. Pediatr Clin North Am. 2015 Jun; 62(3):633-48. View Tuberous sclerosis complex. Abstract

Autism and the synapse: emerging mechanisms and mechanism-based therapies. Curr Opin Neurol. 2015 Apr; 28(2):91-102. View Autism and the synapse: emerging mechanisms and mechanism-based therapies. Abstract

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 An 8-year old boy with continuous spikes and waves during slow sleep presenting with positive onconeuronal antibodies. Abstract

Child Neurology: PRRT2-associated movement disorders and differential diagnoses. Neurology. 2014 Oct 28; 83(18):1680-3. View Child Neurology: PRRT2-associated movement disorders and differential diagnoses. Abstract

Parkinson's disease: A disorder of axonal mitophagy? Mov Disord. 2014 Nov; 29(13):1582. View Parkinson's disease: A disorder of axonal mitophagy? Abstract

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 Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features. Abstract

International electives in the final year of German medical school education--a student's perspective. GMS Z Med Ausbild. 2014; 31(3):Doc26. View International electives in the final year of German medical school education--a student's perspective. Abstract

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 Chronic treatment with novel small molecule Hsp90 inhibitors rescues striatal dopamine levels but not a-synuclein-induced neuronal cell loss. Abstract

Modeling Parkinson's disease in a dish--a story of yeast and men. Mov Disord. 2014 Jan; 29(1):34. View Modeling Parkinson's disease in a dish--a story of yeast and men. Abstract

Molecular chaperones and protein folding as therapeutic targets in Parkinson's disease and other synucleinopathies. Acta Neuropathol Commun. 2013 Dec 05; 1:79. View Molecular chaperones and protein folding as therapeutic targets in Parkinson's disease and other synucleinopathies. Abstract

Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases. Pediatr Res. 2014 Jan; 75(1-2):217-26. View Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases. Abstract

Restoring impaired protein metabolism in Parkinson's disease--TFEB-mediated autophagy as a novel therapeutic target. Mov Disord. 2013 Sep; 28(10):1346. View Restoring impaired protein metabolism in Parkinson's disease--TFEB-mediated autophagy as a novel therapeutic target. Abstract

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 Autophagy and neurodegeneration - genetic findings in SENDA syndrome, a subtype of neurodegeneration with brain iron accumulation, provide a novel link. Abstract

Direct detection of alpha synuclein oligomers in vivo. Acta Neuropathol Commun. 2013 May 09; 1:6. View Direct detection of alpha synuclein oligomers in vivo. Abstract

Proteotoxicity and cardiac dysfunction. N Engl J Med. 2013 05 02; 368(18):1754. View Proteotoxicity and cardiac dysfunction. Abstract

Familial Mediterranean fever in Germany: clinical presentation and amyloidosis risk. Scand J Rheumatol. 2013; 42(1):52-8. View Familial Mediterranean fever in Germany: clinical presentation and amyloidosis risk. Abstract

Molecular chaperones and co-chaperones in Parkinson disease. Neuroscientist. 2012 Dec; 18(6):589-601. View Molecular chaperones and co-chaperones in Parkinson disease. Abstract

Protein degradation pathways in Parkinson's disease: curse or blessing. Acta Neuropathol. 2012 Aug; 124(2):153-72. View Protein degradation pathways in Parkinson's disease: curse or blessing. Abstract

Alpha-synuclein aggregation involves a bafilomycin A 1-sensitive autophagy pathway. Autophagy. 2012 May 01; 8(5):754-66. View Alpha-synuclein aggregation involves a bafilomycin A 1-sensitive autophagy pathway. Abstract

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 Alpha-synuclein's degradation in vivo: opening a new (cranial) window on the roles of degradation pathways in Parkinson disease. Abstract

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 Distinct roles in vivo for the ubiquitin-proteasome system and the autophagy-lysosomal pathway in the degradation of a-synuclein. Abstract

Molecular chaperones in Parkinson's disease--present and future. J Parkinsons Dis. 2011; 1(4):299-320. View Molecular chaperones in Parkinson's disease--present and future. Abstract

Studying protein degradation pathways in vivo using a cranial window-based approach. Methods. 2011 Mar; 53(3):194-200. View Studying protein degradation pathways in vivo using a cranial window-based approach. Abstract

Clinical manifestations and longterm followup of a patient with CINCA/NOMID syndrome. J Rheumatol. 2010 Oct; 37(10):2196-7. View Clinical manifestations and longterm followup of a patient with CINCA/NOMID syndrome. Abstract