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Afshin Saffari

Showing results (1-10 of 46) with videos related to

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Molecular Genetics and Metabolism|June 29, 2021
Childhood-onset hereditary spastic paraplegia and its treatable mimicsDarius Ebrahimi-Fakhari, Afshin Saffari, Phillip L Pearl
Autophagy|January 26, 2017
Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neuronsDarius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, et al.
Orphanet Journal of Rare Diseases|January 6, 2025
Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocolJan H Driedger, Julian Schröter, , et al.
Der Nervenarzt|July 10, 2019
[Gene therapies for neuromuscular diseases]Afshin Saffari, Markus Weiler, Georg Friedrich Hoffmann, et al.
Brain : a Journal of Neurology|November 25, 2015
The evolving spectrum of PRRT2-associated paroxysmal diseasesDarius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, et al.
Annals of Clinical and Translational Neurology|January 19, 2019
Novel challenges in spinal muscular atrophy - How to screen and whom to treat?Afshin Saffari, Stefan Kölker, Georg F Hoffmann, et al.
Human Molecular Genetics|August 4, 2022
De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlationsJulian E Alecu, Afshin Saffari, Catherine Jordan, et al.
Neuropediatrics|February 12, 2020
Axenfeld-Rieger Anomaly and Neuropsychiatric Problems-More than Meets the EyeAfshin Saffari, Andreas Ziegler, Andreas Merkenschlager, et al.
American Journal of Medical Genetics. Part A|August 17, 2022
Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variantsDustin L Gable, Alisa Mo, Elicia Estrella, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 28, 2024
Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlationsJulian E Alecu, Amy Tam, Silja Richter, et al.
Pageof 5

Showing results (1-10 of 46) with videos related to

Sort By:
Pageof 5
Molecular Genetics and Metabolism|June 29, 2021
Childhood-onset hereditary spastic paraplegia and its treatable mimicsDarius Ebrahimi-Fakhari, Afshin Saffari, Phillip L Pearl
Autophagy|January 26, 2017
Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neuronsDarius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, et al.
Orphanet Journal of Rare Diseases|January 6, 2025
Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocolJan H Driedger, Julian Schröter, , et al.
Der Nervenarzt|July 10, 2019
[Gene therapies for neuromuscular diseases]Afshin Saffari, Markus Weiler, Georg Friedrich Hoffmann, et al.
Brain : a Journal of Neurology|November 25, 2015
The evolving spectrum of PRRT2-associated paroxysmal diseasesDarius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, et al.
Annals of Clinical and Translational Neurology|January 19, 2019
Novel challenges in spinal muscular atrophy - How to screen and whom to treat?Afshin Saffari, Stefan Kölker, Georg F Hoffmann, et al.
Human Molecular Genetics|August 4, 2022
De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlationsJulian E Alecu, Afshin Saffari, Catherine Jordan, et al.
Neuropediatrics|February 12, 2020
Axenfeld-Rieger Anomaly and Neuropsychiatric Problems-More than Meets the EyeAfshin Saffari, Andreas Ziegler, Andreas Merkenschlager, et al.
American Journal of Medical Genetics. Part A|August 17, 2022
Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variantsDustin L Gable, Alisa Mo, Elicia Estrella, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 28, 2024
Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlationsJulian E Alecu, Amy Tam, Silja Richter, et al.
Pageof 5