Isabelle Le Ber - Concepedia

Author

Isabelle Le Ber

Sorbonne Université

Also Known As

Fabrizio Salvi, I. Le Ber, Isabelle Le Ber, Isabelle Le Ber, Thomas Meitinger

Publications

3.5K

Citations

H-Index

Concepts

All Affiliations

Sorbonne Université Pitié-Salpêtrière Hospital Inserm Assistance Publique – Hôpitaux de Paris Centre National de la Recherche Scientifique

About

Isabelle Le Ber is an author at Sorbonne Université specializing in medicine, neurology, and neuroscience.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	1.1K
2	Social Sciences	3	3	305
3	Health Sciences	1	1	71
4	Natural Sciences	1	1	518
5	Cell Biology	1	1	27

Isabelle Le Ber

Publications

2.7K

Citations

H-Index

Page 1

	Year	Citations
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 Maria-Ceù Moreira, Sandra Klur, Andrea H. Németh, Nature Genetics Yeast Rna HelicaseNatural SciencesGeneticsRna BiologyMolecular Biology	2004	518
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration Giovanni Stévanin, Hamid Azzedine, Paola S. Denora, Brain	2007	246
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients Mathieu Anheim, B. Monga, Marie‐Céline Fleury, Brain	2009	242
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies Isabelle Le Ber Brain	2003	237
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients Isabelle Le Ber Brain	2004	210
Are interrupted <i>SCA2</i> CAG repeat expansions responsible for parkinsonism? Perrine Charles, A. Camuzat, N. Benammar, Neurology	2007	164
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia Marie Coutelier, Iulia Blesneac, Arnaud Monteil, The American Journal of Human Genetics Recurrent MutationMolecular NeuroscienceNeurophysiologyGeneticsIon Channels	2015	124
Neurological, Cardiological, and Oculomotor Progression in 104 Patients With Friedreich Ataxia During Long-term Follow-up Françoise Pousset, Marie‐Laure Tanguy, Sophie Rivaud-Péchoux, Archives of Neurology	2007	124
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes Marie Coutelier, Monia Hammer, Giovanni Stévanin, JAMA Neurology	2018	120
Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment Sophie Tézenas du Montcel, Perrine Charles, Cyril Goizet, Brain NeuropsychologyNeurological DisorderMotor DifficultySocial SciencesQuantitative Score	2008	100

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