Marie‐Lorraine Monin

Author

Also Known As

Aurélie Méneret, M L Monin, M.L. Monin, Marie-Lorraine Monin, Marie‐Lorraine Monin, Monin, Marie-Lorraine, Paolo Milani, Perrine Charles

Publications

1.6K

Citations

H-Index

Concepts

All Affiliations

Sorbonne Université Inserm Institut du Cerveau Pitié-Salpêtrière Hospital Assistance Publique – Hôpitaux de Paris

About

Marie‐Lorraine Monin is an author at Sorbonne Université specializing in medicine, neurology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	541
2	Health Sciences	1	1	73
3	Natural Sciences	1	1	42
4	Public Health	1	1	111
5	Social Sciences	1	1	124

Marie‐Lorraine Monin

Publications

1.3K

Citations

H-Index

Page 1

	Year	Citations
Mutations in <i>KCND3</i> cause spinocerebellar ataxia type 22 Yi‐Chung Lee, Alexandra Dürr, Karen Majczenko, Annals of Neurology	2012	151
Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study Kathrin Reetz, Imis Dogan, R.-D Hilgers, The Lancet Neurology Neurodegenerative DiseasesNeurobiology Of DiseaseProgression CharacteristicsNeurological DisorderNeuroepidemiology	2016	150
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
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes Marie Coutelier, Monia Hammer, Giovanni Stévanin, JAMA Neurology	2018	120
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies Marie Coutelier, Giulia Coarelli, Marie‐Lorraine Monin, Brain NeurogenomicsNeurological DisorderGeneticsGenetic EpidemiologyDisease Gene Identification	2017	111
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex Livia Parodi, Silvia Fenu, Mathieu Barbier, Brain	2018	108
A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia Françoise Pousset, L. Legrand, Marie‐Lorraine Monin, JAMA Neurology	2015	107
Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5 Cécilia Marelli, Foudil Lamari, Dominique Rainteau, Brain Pain DisordersGenetic TestingPain MedicineGeneticsGenetic Epidemiology	2017	73
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype Marie‐Lorraine Monin, Cyril Mignot, Pascale de Lonlay, Orphanet Journal of Rare Diseases	2014	72
Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion Masato Obayashi, Giovanni Stévanin, Matthis Synofzik, Journal of Neurology Neurosurgery & Psychiatry	2014	63

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