List of works - Darius Ebrahimi-Fakhari

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

scientific article published in 2022

A special issue on childhood-onset movement disorders

scientific article published on 02 April 2019

AP-4-mediated axonal transport controls endocannabinoid production in neurons

scientific article published on 25 February 2022

Alpha-synuclein aggregation involves a bafilomycin A 1-sensitive autophagy pathway

scientific article

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

scientific article published on 23 December 2014

Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy

scientific article published on 13 May 2020

Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.

scientific article published on 3 July 2018

Autism and the synapse: emerging mechanisms and mechanism-based therapies

scientific article

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

scientific article published in July 2013

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

scientific article (publication date: 2014)

Clinical Manifestations and Longterm Followup of a Patient with CINCA/NOMID Syndrome

scientific article published on 01 October 2010

Clinical and genetic characterization of AP4B1-associated SPG47.

scientific article published on 28 November 2017

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

scientific article published on 14 April 2015

Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome

scientific article published on 28 March 2017

Direct detection of alpha synuclein oligomers in vivo

scientific article published on 09 May 2013

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

scientific article published on 17 September 2014

Distinct RolesIn Vivofor the Ubiquitin–Proteasome System and the Autophagy–Lysosomal Pathway in the Degradation of α-Synuclein ⬇️

scientific article published on October 12, 2011

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

scientific article published on 21 June 2019

Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases

scientific article published on 28 October 2013

Expansion of the genetic landscape of ERLIN2-related disorders

scientific article published on 08 March 2020

Familial Mediterranean fever in Germany: clinical presentation and amyloidosis risk

scientific article published on 8 November 2012

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

scientific article published on 11 September 2019

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

scientific article published on 25 September 2021

International electives in the final year of German medical school education--a student's perspective

scientific article

Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.

scientific article published on 5 May 2017

Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52

scientific article published on 25 March 2020

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

scientific article published on 24 January 2022

Modeling Parkinson's disease in a dish--a story of yeast and men.

scientific article

Molecular chaperones and co-chaperones in Parkinson disease

scientific article

Molecular chaperones and protein folding as therapeutic targets in Parkinson's disease and other synucleinopathies

scientific article

Movement Disorders in Treatable Inborn Errors of Metabolism

scientific article published on 17 December 2018

Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.

scientific article published on 21 May 2018

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

scientific article published in May 2017

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

scientific article published on April 2016

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis

publication published on 16 March 2022

Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy

scientific article published on 08 April 2019

Parkinson's disease: A disorder of axonal mitophagy?

scientific article published on 25 September 2014

Protein degradation pathways in Parkinson's disease: curse or blessing

scientific article

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

scientific article published on 24 November 2021

Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy

scientific article published on 03 September 2015

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

scientific article

Restoring impaired protein metabolism in Parkinson's disease--TFEB-mediated autophagy as a novel therapeutic target

scientific article published in September 2013

The Circadian Protein BMAL1 Regulates Translation in Response to S6K1-Mediated Phosphorylation

scientific article published on 14 May 2015

The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases

scientific article published on 10 December 2017

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

scientific article published in July 2015

List of works by Darius Ebrahimi-Fakhari

<i>De novo</i> variants cause complex symptoms in HSP-<i>ATL1</i> (SPG3A) and uncover genotype–phenotype correlations

A special issue on childhood-onset movement disorders

AP-4-mediated axonal transport controls endocannabinoid production in neurons

Alpha-synuclein aggregation involves a bafilomycin A 1-sensitive autophagy pathway

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

Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy

Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.

Autism and the synapse: emerging mechanisms and mechanism-based therapies

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

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

Clinical Manifestations and Longterm Followup of a Patient with CINCA/NOMID Syndrome

Clinical and genetic characterization of AP4B1-associated SPG47.

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

Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome

Direct detection of alpha synuclein oligomers in vivo

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

Distinct RolesIn Vivofor the Ubiquitin–Proteasome System and the Autophagy–Lysosomal Pathway in the Degradation of α-Synuclein ⬇️

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

Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases

Expansion of the genetic landscape of ERLIN2-related disorders

Familial Mediterranean fever in Germany: clinical presentation and amyloidosis risk

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

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

International electives in the final year of German medical school education--a student's perspective

Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.

Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Modeling Parkinson's disease in a dish--a story of yeast and men.

Molecular chaperones and co-chaperones in Parkinson disease

Molecular chaperones and protein folding as therapeutic targets in Parkinson's disease and other synucleinopathies

Movement Disorders in Treatable Inborn Errors of Metabolism

Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.

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

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

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis

Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy

Parkinson's disease: A disorder of axonal mitophagy?

Protein degradation pathways in Parkinson's disease: curse or blessing

Quantitative retrospective natural history modeling of <i>WDR45</i>-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases

Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy

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

Restoring impaired protein metabolism in Parkinson's disease--TFEB-mediated autophagy as a novel therapeutic target

The Circadian Protein BMAL1 Regulates Translation in Response to S6K1-Mediated Phosphorylation

The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases

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

Tuberous Sclerosis Complex