Nadège Calmels - Concepedia

Author

Nadège Calmels

Also Known As

Calmels N, Calmels, Nadege, Calmels, Nadège, Delphine Gonde, N. Calmels, Nadege Calmels, Nadege Carelle-Calmels, Nadège Calmels, Nadège Carelle-Calmels

Publications

1.5K

Citations

H-Index

Concepts

All Affiliations

Inserm Centre National de la Recherche Scientifique Institut de génétique et de biologie moléculaire et cellulaire Hôpitaux Universitaires de Strasbourg Laboratoire de Génétique Médicale

About

Nadège Calmels is an author at Inserm specializing in medicine, genetics, and neuroscience.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	874
2	Natural Sciences	1	1	141
3	Biochemistry	1	1	141
4	Biology	1	1	141
5	Metabolism	1	1	141

Nadège Calmels

Publications

1.4K

Citations

H-Index

Page 1

	Year	Citations
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 Robin Walters, Sébastien Jacquemont, Armand Valsesia, Nature ObesityMetabolic SyndromeChildhood ObesityDevelopmental BiologyMetabolic Disorder	2010	554
The in vivo mitochondrial two-step maturation of human frataxin Stéphane Schmucker, Manuela Argentini, Nadège Calmels, Human Molecular Genetics Amino AcidsMolecular BiologyHuman FrataxinRedox BiologyFriedreich Ataxia	2008	141
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome Nadège Calmels, Elena Botta, Nan Jia, Journal of Medical Genetics	2018	78
Genetic Compensation in a Human Genomic Disorder Nadège Calmels, Pascale Saugier-Véber, Françoise Girard‐Lemaire, New England Journal of Medicine	2009	63
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet, Acta Neuropathologica Affected Female CarriersMendelian DisorderGenetic DisorderMedicineGenetics	2017	58
Highlighting the Dystonic Phenotype Related to <scp><i>GNAO1</i></scp> Thomas Wirth, Giacomo Garone, Manju A. Kurian, Movement Disorders	2022	58
The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia Nadège Calmels, Stéphane Schmucker, Marie Wattenhofer‐Donzé, PLoS ONE	2009	54
Natural History and Phenotypic Spectrum of <scp>GAA‐<i>FGF14</i></scp> Sporadic Late‐Onset Cerebellar Ataxia (<scp>SCA27B</scp>) Thomas Wirth, Guillemette Clément, Clarisse Delvallée, Movement Disorders	2023	51
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing Nadège Calmels, Géraldine Greff, Cathy Obringer, Orphanet Journal of Rare Diseases	2016	40
Diagnostic and severity scores for Cockayne syndrome Marie‐Aude Spitz, François Séverac, Cathy Obringer, Orphanet Journal of Rare Diseases	2021	28

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