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Jean‐Marie Cuisset | Researchclopedia

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Jean‐Marie Cuisset

Centre Hospitalier Universitaire de Lille

117

Works

5,210

Citations

37

h-index

71

i10-index

Research Topics

Muscle Physiology and Disorders Neurogenetic and Muscular Disorders Research Cardiomyopathy and Myosin Studies

Affiliations

Université Claude Bernard Lyon 12007–2007

Université Toulouse III - Paul Sabatier2022–2022

Inserm2006–2022

Université Fédérale de Toulouse Midi-Pyrénées2022–2022

Université de Lille2004–2019

Top Works

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Robin Walters,Sébastien Jacquemont,et al.

2010557 citations

Mitochondrial Function and Pathology

Metabolism and Genetic Disorders

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont,Alexandre Reymond,et al.

2011476 citations

De novo <i>LMNA</i> mutations cause a new form of congenital muscular dystrophy

Susana Quijano‐Roy,Blaise Mbieleu,et al.

2008281 citations

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Karim Wahbi,Rabah Ben Yaou,et al.

2019251 citations

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

Caroline Schluth‐Bolard,Bruno Delobel,et al.

2009173 citations

Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study

A. Chabanon,A. Seferian,et al.

2018151 citations

Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials

Véronique Humbertclaude,Dalil Hamroun,et al.

2011138 citations

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

Isabelle Gerin,Benoît Ury,et al.

2016137 citations

Comparison of seizure reduction and serum fatty acid levels after receiving the ketogenic and modified Atkins diet

Natacha Porta,Louis Vallée,et al.

2009130 citations