Marion Masingue

Marion Masingue

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Marion Masingue

Marion Masingue

Publications by authors named "Marion Masingue"

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Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation.

Muscle Nerve 2020 Jan 16. Epub 2020 Jan 16.

Department of Neurophysiology, CHU Pitié Salpetrière, Assistance Publique Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1002/mus.26809DOI Listing
January 2020

Natural History of Adult Patients with GM2 Gangliosidosis.

Ann Neurol 2020 Jan 29. Epub 2020 Jan 29.

Department of Neurology, Reference Center for Lysosomal Diseases, Neuro-Genetic and Metabolism Unit, Pitié-Salpêtrière University Hospital Group (Assistance publique Hôpitaux de Paris (AP-HP)), Paris.

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http://dx.doi.org/10.1002/ana.25689DOI Listing
January 2020

Mutations in the J domain of DNAJB6 cause dominant distal myopathy.

Neuromuscul Disord 2019 Nov 19. Epub 2019 Nov 19.

Neuromuscular Research Center, Tampere University Hospital and Tampere University, P.O. box 100, FIN-33014 Tampere, Finland; Folkhälsan Research Center, Helsinki, Finland and University of Helsinki, Medicum, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.nmd.2019.11.005DOI Listing
November 2019

Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III.

Muscle Nerve 2019 07 24;60(1):72-79. Epub 2019 Apr 24.

APHP, Service de Radiologie GHU PIFO pôle neuro-locomoteur, Hôpital Raymond Poincaré, Garches, France.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mus.26483
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http://dx.doi.org/10.1002/mus.26483DOI Listing
July 2019

Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.

Mitochondrion 2019 03 21;45:22-28. Epub 2018 Feb 21.

Sorbonne Université, UPMC-Paris 6, UMR S 1127 and Inserm U 1127, and CNRS UMR 7225, and Institut du Cerveau et de la Moelle épinière, F-75013, Paris, France; AP-HP, Pitié-Salpêtrière University Hospital, Department of Genetics, Paris, France; University Pierre and Marie Curie, Neurometabolic Research Group, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2018.02.001DOI Listing
March 2019

Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition.

J Neurol Sci 2019 01 10;396:112-118. Epub 2018 Nov 10.

AP-HP, Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; AP-HP, Robert Debré University Hospital, Department of Biochemistry, Paris, France; Lip(Sys)(2), Université Paris Sud, Orsay, France; MedDay Pharmaceuticals, 96 Boulevard Haussmann, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X183046
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http://dx.doi.org/10.1016/j.jns.2018.11.014DOI Listing
January 2019

A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect.

Neuromuscul Disord 2019 01 8;29(1):75-79. Epub 2018 Nov 8.

Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Institut de Myologie, CHU La Pitié-Salpêtrière, APHP, Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183115
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http://dx.doi.org/10.1016/j.nmd.2018.10.005DOI Listing
January 2019

Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes.

J Inherit Metab Dis 2018 09 20;41(5):799-807. Epub 2018 Mar 20.

Centre de Référence Neurométabolique Adulte, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1007/s10545-018-0162-7DOI Listing
September 2018

WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.

Neurogenetics 2018 05 2;19(2):67-76. Epub 2018 Feb 2.

Centre de Référence de pathologie neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1007/s10048-018-0539-7DOI Listing
May 2018

Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.

Orphanet J Rare Dis 2018 02 1;13(1):29. Epub 2018 Feb 1.

Neurology Department, Reference Center for Lysosomal Diseases, Neurogenetics and Metabolism Unit, AP-HP, GH Pitié-Salpêtrière-Charles Foix, Paris, France.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0767-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796584PMC
February 2018

Fatigue evaluation in fingolimod treated patients: An observational study.

Mult Scler Relat Disord 2017 May 14;14:8-11. Epub 2017 Mar 14.

Department of Neurology, Pitié-Salpêtrière Hospital, APHP, Paris, France.

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http://dx.doi.org/10.1016/j.msard.2017.03.006DOI Listing
May 2017

Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment.

Orphanet J Rare Dis 2017 02 2;12(1):22. Epub 2017 Feb 2.

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

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http://dx.doi.org/10.1186/s13023-017-0579-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289046PMC
February 2017

[An update on limitations of intravenous thrombolysis to treat acute ischemic stroke].

Presse Med 2015 May 16;44(5):515-25. Epub 2015 Feb 16.

Hôpital Saint-Antoine, service de neurologie et d'urgences neuro-vasculaires, 75012 Paris, France; Université Pierre-et-Marie-Curie, Paris VI, 75005 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.lpm.2014.07.027DOI Listing
May 2015