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Domitille Gras

Showing results (21-30 of 32) with videos related to

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Neuromuscular Disorders : NMD|January 2, 2019
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective studyAgnès Viguier, Valérie Lauwers-Cances, Pascal Cintas, et al.
Neurology|January 21, 2022
Cerebellum Dysfunction in Patients With <i>PRRT2</i>-Related Paroxysmal DyskinesiaAsya Ekmen, Aurelie Meneret, Romain Valabregue, et al.
Parkinsonism & Related Disorders|April 26, 2020
Increased diagnostic yield in complex dystonia through exome sequencingThomas Wirth, Christine Tranchant, Nathalie Drouot, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2012
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 geneDomitille Gras, Laurence Jonard, Emmanuel Roze, et al.
Movement Disorders Clinical Practice|May 19, 2023
Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase DeficiencyMarie-Céline François-Heude, Gaetan Poulen, Emmanuel Flamand Roze, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 2, 2026
Gene Therapy for Amino Acid Decarboxylase Deficiency: Clinical and Imaging Outcomes in a French CohortClément Dunoyer, Gaëtan Poulen, Marie-Céline François-Heude, et al.
Orphanet Journal of Rare Diseases|May 23, 2013
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
GM3 synthase deficiency in non-Amish patientsSolveig Heide, Marie-Line Jacquemont, David Cheillan, et al.
American Journal of Human Genetics|November 22, 2022
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanismShridhar Parthasarathy, Sarah McKeown Ruggiero, Antoinette Gelot, et al.
Neurology|April 19, 2023
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency SyndromeFanny Mochel, Domitille Gras, Marie-Pierre Luton, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
Neuromuscular Disorders : NMD|January 2, 2019
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective studyAgnès Viguier, Valérie Lauwers-Cances, Pascal Cintas, et al.
Neurology|January 21, 2022
Cerebellum Dysfunction in Patients With <i>PRRT2</i>-Related Paroxysmal DyskinesiaAsya Ekmen, Aurelie Meneret, Romain Valabregue, et al.
Parkinsonism & Related Disorders|April 26, 2020
Increased diagnostic yield in complex dystonia through exome sequencingThomas Wirth, Christine Tranchant, Nathalie Drouot, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2012
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 geneDomitille Gras, Laurence Jonard, Emmanuel Roze, et al.
Movement Disorders Clinical Practice|May 19, 2023
Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase DeficiencyMarie-Céline François-Heude, Gaetan Poulen, Emmanuel Flamand Roze, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 2, 2026
Gene Therapy for Amino Acid Decarboxylase Deficiency: Clinical and Imaging Outcomes in a French CohortClément Dunoyer, Gaëtan Poulen, Marie-Céline François-Heude, et al.
Orphanet Journal of Rare Diseases|May 23, 2013
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
GM3 synthase deficiency in non-Amish patientsSolveig Heide, Marie-Line Jacquemont, David Cheillan, et al.
American Journal of Human Genetics|November 22, 2022
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanismShridhar Parthasarathy, Sarah McKeown Ruggiero, Antoinette Gelot, et al.
Neurology|April 19, 2023
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency SyndromeFanny Mochel, Domitille Gras, Marie-Pierre Luton, et al.
Pageof 4