Jean-Marie Cuisset
Lille University of Science and Technology
108 Papers
522 Citations
Jean-Marie Cuisset is an academic researcher from Lille University of Science and Technology. The author has contributed to research in topics: Medicine & Duchenne muscular dystrophy. The author has an hindex of 29, co-authored 106 publications. Previous affiliations of Jean-Marie Cuisset include French Institute of Health and Medical Research & Boston Children's Hospital.
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Papers
GUG is an efficient initiation codon to translate the human mitochondrial ATP6 gene
A Dubot,Catherine Godinot,Viviane Dumur,Bernard Sablonnière,Tanya Stojkovic,Jean-Marie Cuisset,Alena Vojtiskova,Petr Pecina,Pavel Ješina,Josef Houstek +9 more
TL;DR: A maternally inherited and practically homoplasmic mitochondrial (mtDNA) mutation, 8527A>G, changing the initiation codon AUG into GUG, normally coding for a valine, is observed in the ATP6 gene encoding the ATPase subunit a.
Psychiatric and Cognitive Phenotype of Childhood Myotonic Dystrophy Type 1.
Marie Douniol,Aurélia Jacquette,David Cohen,Nicolas Bodeau,Linda Rachidi,Nathalie Angeard,Jean-Marie Cuisset,Louis Vallée,Bruno Eymard,Monique Plaza,Delphine Héron,Jean-Marc Guilé +11 more
TL;DR: The aim is to investigate the psychiatric and cognitive phenotype in young individuals with the childhood form of myotonic dystrophy type 1 (DM1) and to establish a smoking cessation strategy for patients with DM1.
Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy.
Vincent Huin,Isabelle Strubi-Vuillaume,Kathy Dujardin,Marine Brion,Marie Delliaux,Delphine Dellacherie,Jean-Christophe Cuvellier,Jean-Marie Cuisset,Audrey Riquet,Caroline Moreau,Luc Defebvre,Bernard Sablonnière,David Devos +12 more
TL;DR: New clinical features and details of the cognitive profile in two SCA19/22 families are reported and it is suggested that KCND3 should be included in the list of candidate genes for epilepsy, Parkinsonism and cognitive impairment.
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
Frédérique Audic,Marta Gomez Garcia de la Banda,Delphine Bernoux,Paola Ramirez-Garcia,Julien Durigneux,Christine Barnerias,Arnaud Isapof,Jean-Marie Cuisset,Claude Cances,Christian Richelme,Carole Vuillerot,Vincent Laugel,Juliette Ropars,Cecilia Altuzarra,Caroline Espil-Taris,Ulrike Walther-Louvier,Pascal Sabouraud,Mondher Chouchane,Catherine Vanhulle,Valérie Trommsdorff,Anne Perville,Hervé Testard,Emmanuelle Lagrue,Catherine Sarret,Anne-Laude Avice,Pierre Beze-Beyrie,Vanessa Pauly,Susana Quijano-Roy,Brigitte Chabrol,Isabelle Desguerre +29 more
TL;DR: Nusinersen offers life-changing benefits for children with SMA, particularly those with more severe forms of the disorder, and caregiver assessments are positive.
Intérêt du régime cétogène dans le traitement d'un état de mal épileptique résistant de l'adulte
M. Bodenant,Caroline Moreau,C. Sejourné,Stéphane Auvin,Arnaud Delval,Jean-Marie Cuisset,Philippe Derambure,Alain Destée,Luc Defebvre +8 more
TL;DR: The regime cetogene pourrait constituer une alternative pour le traitement des epilepsies pharmacoresistantes de l’adulte et dans le traitation des etats de mal resistants, comme chez l”enfant.