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Cyril Goizet

Showing results (121-130 of 173) with videos related to

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Neurology. Genetics|June 18, 2020
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophyMajida Charif, Arnaud Chevrollier, Naïg Gueguen, et al.
European Journal of Human Genetics : EJHG|November 6, 2008
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathyDorien Lugtenberg, Tjitske Kleefstra, Astrid R Oudakker, et al.
Scientific Reports|June 20, 2020
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the RuleLaure Cayrefourcq, Marie-Claire Vincent, Sandra Pierredon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathiesStéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, et al.
Neurogenetics|January 24, 2021
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlationsJean-Loup Méreaux, Cristina Firanescu, Giulia Coarelli, et al.
BMC Medicine|March 25, 2026
Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disordersMehrdad A Estiar, Eric Yu, Parizad Varghaei, et al.
Brain : a Journal of Neurology|December 12, 2017
Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5Cecilia Marelli, Foudil Lamari, Dominique Rainteau, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 22, 2015
Delayed-onset Friedreich's ataxia revisitedClaire Lecocq, Perrine Charles, Jean-Philippe Azulay, et al.
Journal of Medical Genetics|May 17, 2023
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <i>POLR3A</i>, <i>POLR3B</i> and <i>POLR1C</i>Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, et al.
Human Mutation|April 1, 2020
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8ASimon Boussion, Fabienne Escande, Anne-Sophie Jourdain, et al.
Pageof 18

Showing results (121-130 of 173) with videos related to

Sort By:
Pageof 18
Neurology. Genetics|June 18, 2020
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophyMajida Charif, Arnaud Chevrollier, Naïg Gueguen, et al.
European Journal of Human Genetics : EJHG|November 6, 2008
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathyDorien Lugtenberg, Tjitske Kleefstra, Astrid R Oudakker, et al.
Scientific Reports|June 20, 2020
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the RuleLaure Cayrefourcq, Marie-Claire Vincent, Sandra Pierredon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathiesStéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, et al.
Neurogenetics|January 24, 2021
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlationsJean-Loup Méreaux, Cristina Firanescu, Giulia Coarelli, et al.
BMC Medicine|March 25, 2026
Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disordersMehrdad A Estiar, Eric Yu, Parizad Varghaei, et al.
Brain : a Journal of Neurology|December 12, 2017
Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5Cecilia Marelli, Foudil Lamari, Dominique Rainteau, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 22, 2015
Delayed-onset Friedreich's ataxia revisitedClaire Lecocq, Perrine Charles, Jean-Philippe Azulay, et al.
Journal of Medical Genetics|May 17, 2023
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <i>POLR3A</i>, <i>POLR3B</i> and <i>POLR1C</i>Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, et al.
Human Mutation|April 1, 2020
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8ASimon Boussion, Fabienne Escande, Anne-Sophie Jourdain, et al.
Pageof 18