Marie-Lorraine Monin

Marie-Lorraine Monin

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Marie-Lorraine Monin

Marie-Lorraine Monin

Publications by authors named "Marie-Lorraine Monin"

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22Publications

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Oral mobility reflects rate of progression in advanced Friedreich's ataxia.

Ann Clin Transl Neurol 2019 Sep 25;6(9):1888-1892. Epub 2019 Aug 25.

Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM), AP-HP, INSERM, CNRS, Hôpital Universitaire Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1002/acn3.50879DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764486PMC
September 2019

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with .

Neurology 2019 Jun 8;92(23):e2679-e2690. Epub 2019 May 8.

From Sorbonne Université (G.C., C.E., B.F., M.-L.M., F.M., M.P., C.-S.D., G.S., A.D.), Institut du Cerveau et de la Moelle épinière (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière; Department of Genetics (G.C., C.E., M.-L.M., P.C., F.M., G.B., G.S., A.D.), Pitié-Salpêtrière Charles-Foix University Hospital, Assistance publique-Hôpitaux de Paris, Sorbonne Université, Paris, France; Center for Neurology and Hertie Institute for Clinical Brain Research (R.S., M.S., L.S.), University of Tübingen, German Center for Neurodegenerative Diseases; German Center for Neurodegenerative Diseases (R.S., M.S., L.S.), Tübingen; Department of Neurology (B.P.C.v.d.W., E.G.H.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neurogenetics Group (P.D.J., J.B., T.D., P.M., J.D.B., M.D.), University of Antwerp; Laboratories of Neurogenetics and Neuromuscular Pathology (P.D.J., J.B., T.D., P.M., J.D.B., M.D.), Institute Born-Bunge, University of Antwerp; Department of Neurology (P.D.J., J.B., T.D., P.M., J.D.B., M.D.), Antwerp University Hospital, Belgium; Scientific Institute IRCCS "E. Medea" (A.M.), Conegliano, Italy; Department of Neurology (M.A.), Hôpital de Hautepierre, Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (M.A.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch; Fédération de Médecine Translationnelle de Strasbourg (M.A.), Université de Strasbourg; Department of Neurology (B.F.), Pitié-Salpêtrière Charles-Foix University Hospital, Assistance publique-Hôpitaux de Paris, Sorbonne Université, France; Department of Neurology (T. Klockgether, D.K.), University of Bonn; German Center for Neurodegenerative Diseases (T. Klockgether, D.K.), Bonn; Scientific Institute IRCCS E. Medea Neurorehabilitation Unit (M.G.D.), Bosisio Parini, Lecco, Italy; ULB Center of Human Genetics (I.M.), Brussels, Belgium; Scientific Institute IRCCS E. Medea Laboratory of Molecular Biology (M.T.B.), Bosisio Parini, Lecco, Italy; Department of Neurology With Friedrich-Baur Institute (T. Klopstock), University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (T. Klopstock); Munich Cluster for Systems Neurology (T. Klopstock), Germany; Department of Genetics (E.O.-R.), Croix-Rousse University Hospital, Lyon, France; Department of Neurology (C.K.), University of Rostock, Germany; Ecole Pratique des Hautes Etudes (M.P., G.S.), PSL Research University; Sorbonne Université (S.T.d.M.), INSERM, Institut Pierre Louis de Santé Publique, Medical Information Unit, Pitié-Salpêtrière Charles-Foix University Hospital, Assistance publique-Hôpitaux de Paris; and Raymond Escourolle Neuropathology Department (D.S., C.D.), Pitié-Salpêtrière University Hospital, Assistance publique-Hôpitaux de Paris, Sorbonne Université, France.

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http://dx.doi.org/10.1212/WNL.0000000000007606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556095PMC
June 2019

Contemporary Dance Practice Improves Motor Function and Body Representation in Huntington's Disease: A Pilot Study.

J Huntingtons Dis 2019 ;8(1):97-110

Brain and Spine Institute (ICM), Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.

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http://dx.doi.org/10.3233/JHD-180315DOI Listing
January 2019

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.

Brain 2018 12;141(12):3331-3342

Institut du Cerveau et de la Moelle épinière (ICM), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awy285DOI Listing
December 2018

Expanded neurochemical profile in the early stage of Huntington disease using proton magnetic resonance spectroscopy.

NMR Biomed 2018 03 9;31(3). Epub 2018 Jan 9.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1002/nbm.3880DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841244PMC
March 2018

Low cancer prevalence in polyglutamine expansion diseases.

Neurology 2017 Mar 15;88(12):1114-1119. Epub 2017 Feb 15.

From ICM Institut du Cerveau et de la Moelle Épinière (G.C., D.R., A.B., F.M., A.D.), Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127; Sorbonne Universités (A.D., S.T.d.M.), UPMC Univ Paris 06 UMR_S1136; INSERM UMR_S 1136 (A.D., S.T.d.M.), Institut Pierre Louis d'Epidémiologie et de Santé Publique; Institut Curie (M.S.T.), Paris; University Paris Sud 11 (M.S.T.), Orsay; CIC (F.C.), CHRU Pierre-Paul Riquet Hospital, Toulouse; CHU de Strasbourg-Hôpital de Hautepierre (O.L.B., C.T., M.A.); Fédération de Médecine Translationnelle de Strasbourg (FMTS) (O.L.B., C.T., M.A.), Université de Strasbourg; Department of Genetics (A.T., P.C., C.E., M.T., M.-L.M., A.B., F.M., A.D.) and Unit of Biostatistics (S.T.d.M.), APHP Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Charles-Foix University Hospital, Paris; Service de Neurologie (C.M., B.C.), CHRU Gui de Chauliac, Montpellier; Grenoble Alpes (S.H.), Grenoble Institut des Neurosciences; and INSERM (S.H.), U1216, Grenoble, France.

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http://dx.doi.org/10.1212/WNL.0000000000003725DOI Listing
March 2017

A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia.

JAMA Neurol 2015 Nov;72(11):1334-41

Department of Genetics and Cytogenetics, Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France3Institut du Cerveau et de la Moelle Epinière, Sorbonne Universités, Université Pierre et Marie Curie, Universi.

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http://dx.doi.org/10.1001/jamaneurol.2015.1855DOI Listing
November 2015

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.

Am J Hum Genet 2015 Nov 8;97(5):726-37. Epub 2015 Oct 8.

INSERM U 1127, 75013 Paris, France; Centre National de la Recherche Scientifique UMR 7225, 75013 Paris, France; UMRS 1127, Université Pierre et Marie Curie (Paris 06), Sorbonne Universités, 75013 Paris, France; Institut du Cerveau et de la Moelle Épinière, 75013 Paris, France; Ecole Pratique des Hautes Etudes, 75014 Paris, France; Centre de Référence de Neurogénétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75013 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667105PMC
November 2015

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.

J Neurol Neurosurg Psychiatry 2015 Sep 4;86(9):986-95. Epub 2014 Dec 4.

Sorbonne Universités, Université Pierre et Marie Curie - Paris 06, UMR_S1127, Paris, France Inserm, U1127, Paris, France Cnrs, UMR 7225, Paris, France AP-HP, Groupe Hospitalier Pitié-Salpêtriére, Departement of Genetics and Cytogenetics, Paris, France.

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http://dx.doi.org/10.1136/jnnp-2014-309153DOI Listing
September 2015

Survival and severity in dominant cerebellar ataxias.

Ann Clin Transl Neurol 2015 Feb 7;2(2):202-7. Epub 2015 Jan 7.

AP-HP, Genetic Department, Pitié-Salpêtrière University Hospital F-75013, Paris, France ; Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Univ Paris 06 UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM (Brain and Spine Institute) Pitié-Salpêtrière Hospital F-75013, Paris, France.

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http://dx.doi.org/10.1002/acn3.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4338960PMC
February 2015

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.

Orphanet J Rare Dis 2014 Dec 11;9:207. Epub 2014 Dec 11.

AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, Unité Fonctionnelle de Neurogénétique moléculaire et cellulaire et Centre de Référence des Déficiences Intellectuelles de Causes Rares, 47-83 boulevard de l'hôpital, Paris, 75013, France.

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http://dx.doi.org/10.1186/s13023-014-0207-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266234PMC
December 2014

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.

Brain 2014 Oct 28;137(Pt 10):2657-63. Epub 2014 Jul 28.

2 Institut National de la Santé et de la Recherche Médicale, INSERM U837, and Université de Lille Nord de France, F-59045, Lille, France 4 Pôle de Biochimie et Biologie moléculaire, Centre de Biologie-Pathologie, Centre Hospitalier Régional et Universitaire de Lille, F-59037, Lille, France

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http://dx.doi.org/10.1093/brain/awu202DOI Listing
October 2014

Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease.

Gene 2013 Feb 21;515(2):376-9. Epub 2012 Dec 21.

AP-HP, Department of Neuropathology, Hospital La Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/j.gene.2012.12.065DOI Listing
February 2013