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Annals of Clinical and Translational Neurology|November 7, 2020
Pregnancy in MNGIE: a clinical and metabolic honeymoonPauline Pappalardo, Jean-François Benoist, Bridget E Bax, et al.Human Molecular Genetics|April 23, 2015
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instabilityClaire Angebault, Majida Charif, Naig Guegen, et al.Neurology. Genetics|February 24, 2018
AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, et al.Journal of Neurology, Neurosurgery, and Psychiatry|November 6, 2015
Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiencyFanny Mochel, Elodie Hainque, Domitille Gras, et al.Movement Disorders : Official Journal of the Movement Disorder Society|April 11, 2012
Status dystonicus: predictors of outcome and progression patterns of underlying diseaseAlfonso Fasano, Lucia Ricciardi, Anna Rita Bentivoglio, et al.Frontiers in Pediatrics|March 22, 2021
West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the LiteratureMarc Gibaud, Magalie Barth, Jérémie Lefranc, et al.Journal of Neurology, Neurosurgery, and Psychiatry|January 18, 2015
Severe phenotypic spectrum of biallelic mutations in PRRT2 geneMarion Delcourt, Florence Riant, Josette Mancini, et al.Epilepsia|December 8, 2018
Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizuresMathieu Kuchenbuch, Pascal Benquet, Anna Kaminska, et al.American Journal of Medical Genetics. Part A|June 11, 2015
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variantMajida Charif, Salah Mohamed Cherif Titah, Agathe Roubertie, et al.Movement Disorders : Official Journal of the Movement Disorder Society|May 23, 2018
Deep brain stimulation treated dystonia-trajectory via status dystonicusElodie Nerrant, Victoria Gonzalez, Christophe Milesi, et al.Pageof 14