Lista de obras - Darius Ebrahimi-Fakhari - Dominio Público Uruguay

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

artículo científico publicado en 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

artículo científico publicado en 2022

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

artículo científico publicado en 2012

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

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado el 1 de julio de 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Clinical and genetic characterization of AP4B1-associated SPG47.

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2014

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

artículo científico publicado el 12 de octubre de 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

artículo científico publicado en 2013

Expansion of the genetic landscape of ERLIN2-related disorders

artículo científico publicado en 2020

Familial Mediterranean fever in Germany: clinical presentation and amyloidosis risk

artículo científico publicado en 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

artículo científico publicado en 2021

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

artículo científico publicado en 2014

Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.

artículo científico publicado en 2017

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

artículo científico publicado en 2020

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

artículo científico publicado en 2022

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

artículo científico publicado en 2013

Molecular chaperones and co-chaperones in Parkinson disease

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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.

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2019

Parkinson's disease: A disorder of axonal mitophagy?

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2021

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

artículo científico publicado en 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!

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

Lista de obras de 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