Guilhem Sole

Guilhem Sole

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Guilhem Sole

Guilhem Sole

Publications by authors named "Guilhem Sole"

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Prognostic factor of poor outcome in anti-MAG neuropathy: clinical and electrophysiological analysis of a French Cohort.

J Neurol 2020 Feb 8;267(2):561-571. Epub 2019 Nov 8.

Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux (Groupe Hospitalier Pellegrin), University of Bordeaux, Place Amélie Raba-Léon, 33000, Bordeaux, France.

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http://dx.doi.org/10.1007/s00415-019-09618-0DOI Listing
February 2020

Myopathy and scleromyxedema.

J Neurol 2019 Aug 21;266(8):2051-2059. Epub 2019 May 21.

Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux (Groupe Hospitalier Pellegrin), University of Bordeaux, Place Amélie Raba-Léon, 33000, Bordeaux, France.

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http://dx.doi.org/10.1007/s00415-019-09379-wDOI Listing
August 2019

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Authors:
Karim Wahbi Rabah Ben Yaou Estelle Gandjbakhch Frédéric Anselme Thomas Gossios Neal K Lakdawala Caroline Stalens Frédéric Sacher Dominique Babuty Jean-Noel Trochu Ghassan Moubarak Kostantinos Savvatis Raphaël Porcher Pascal Laforêt Abdallah Fayssoil Eloi Marijon Tanya Stojkovic Anthony Béhin Sarah Leonard-Louis Guilhem Sole Fabien Labombarda Pascale Richard Corinne Metay Susana Quijano-Roy Ivana Dabaj Didier Klug Marie-Christine Vantyghem Philippe Chevalier Pierre Ambrosi Emmanuelle Salort Nicolas Sadoul Xavier Waintraub Khadija Chikhaoui Philippe Mabo Nicolas Combes Philippe Maury Jean-Marc Sellal Usha B Tedrow Jonathan M Kalman Jitendra Vohra Alexander F A Androulakis Katja Zeppenfeld Tina Thompson Christine Barnerias Henri-Marc Bécane Eric Bieth Franck Boccara Damien Bonnet Françoise Bouhour Stéphane Boulé Anne-Claire Brehin Françoise Chapon Pascal Cintas Jean-Marie Cuisset Jean-Marc Davy Annachiara De Sandre-Giovannoli Florence Demurger Isabelle Desguerre Klaus Dieterich Julien Durigneux Andoni Echaniz-Laguna Romain Eschalier Ana Ferreiro Xavier Ferrer Christine Francannet Mélanie Fradin Bénédicte Gaborit Arnaud Gay Albert Hagège Arnaud Isapof Isabelle Jeru Raul Juntas Morales Emmanuelle Lagrue Nicolas Lamblin Olivier Lascols Vincent Laugel Arnaud Lazarus France Leturcq Nicolas Levy Armelle Magot Véronique Manel Raphaël Martins Michèle Mayer Sandra Mercier Christophe Meune Maud Michaud Marie-Christine Minot-Myhié Antoine Muchir Aleksandra Nadaj-Pakleza Yann Péréon Philippe Petiot Florence Petit Julien Praline Anne Rollin Pascal Sabouraud Catherine Sarret Stéphane Schaeffer Frederic Taithe Céline Tard Vincent Tiffreau Annick Toutain Camille Vatier Ulrike Walther-Louvier Bruno Eymard Philippe Charron Corinne Vigouroux Gisèle Bonne Saurabh Kumar Perry Elliott Denis Duboc

Circulation 2019 Jul 3;140(4):293-302. Epub 2019 Jun 3.

APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Paris-Descartes, Sorbonne Paris Cité University (K.W., D.D.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.118.039410DOI Listing
July 2019

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

Eur J Med Genet 2019 Jun 22;62(6):103530. Epub 2018 Aug 22.

Service de Génétique Médicale, CHU de Bordeaux and Laboratoire MRGM, INSERM U1211, Univ. Bordeaux, Bordeaux, France; Centre de Référence Neurogénétique, Service de Génétique Médicale, CHU de Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2018.08.011DOI Listing
June 2019

Rituximab in the Treatment of Refractory Anti-HMGCR Immune-mediated Necrotizing Myopathy.

J Rheumatol 2019 Jun 15;46(6):623-627. Epub 2018 Dec 15.

From the Department of Internal Medicine and Clinical Immunology and Inflammation-Immunopathology-Biotherapy Department (I2B), Pitié-Salpêtrière University Hospital, AP-HP, East Paris Neuromuscular Diseases Reference Center, Inserm U974, Sorbonne Université, Paris, France; Center of Reference for Neuromuscular Disorders AOC, Department of Neurology, Bordeaux University Hospital, Bordeaux, France; Polyvalent and Oncologic Radiology Department, Musculoskeletal Unit, Pitié-Salpêtrière University Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.3899/jrheum.171495DOI Listing
June 2019

[Innovative therapies and organization of care facilities].

Med Sci (Paris) 2019 Mar 3;35 Hors série n° 1:51-53. Epub 2019 Apr 3.

Coordonnateur adulte du Centre de Référence des maladies neuromusculaires de Bordeaux, CHU de Bordeaux, place Amélie Raba Léon, 33000 Bordeaux, France Coordonnateur du Centre de Référence des maladies neuromusculaires Atlantique-Occitanie-Caraïbe, CHU de Bordeaux, place Amélie Raba Léon, 33000 Bordeaux, France.

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http://dx.doi.org/10.1051/medsci/2019027DOI Listing
March 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

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

J Inherit Metab Dis 2018 11 28;41(6):937-946. Epub 2018 Aug 28.

Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Service de Neurologie, CHU Raymond Poincaré, AP-HP, 104 bd Raymond Poincaré, 92380, Garches, France.

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http://dx.doi.org/10.1007/s10545-018-0243-7DOI Listing
November 2018

[Multidisciplinary Concertation Meetings (RCP): objectives and operating procedures].

Authors:
Guilhem Solé

Med Sci (Paris) 2018 Nov 12;34 Hors série n°2:23-25. Epub 2018 Nov 12.

Centre de référence des maladies neuromusculaires Atlantique Occitanie Caraïbe (AOC), Hôpital Pellegrin, CHU de Bordeaux, France.

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http://dx.doi.org/10.1051/medsci/201834s207DOI Listing
November 2018

Some new proposals for the classification of inherited myopathies.

J Neurol Sci 2018 08 19;391:118-119. Epub 2018 Jun 19.

Department of Neurology (National reference center 'neuropathies périphériques rares'), University Hospital Dupuytren, 2 avenue Martin Luther King, 87042 Limoges, France. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2018.06.014DOI Listing
August 2018

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.

J Mol Diagn 2018 07 21;20(4):533-549. Epub 2018 May 21.

Molecular Diagnostic Laboratory, Centre Hospitalier Universitaire Montpellier, Montpellier, France; AOC (Atlantique-Occitanie-Caraïbe) Reference Center for Neuromuscular Disorders, Aquitaine, France; Rare Diseases Genetics Laboratory, Equipe Accueil EA7402, Université de Montpellier, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2018.04.001DOI Listing
July 2018

Value of nerve biopsy in the management of peripheral neuropathies.

Expert Rev Neurother 2018 07 25;18(7):589-602. Epub 2018 Jun 25.

d National Reference Center for 'rare peripheral neuropathies' , University Hospital , Limoges , France.

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http://dx.doi.org/10.1080/14737175.2018.1489240DOI Listing
July 2018

Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.

Mol Genet Metab 2018 04 12;123(4):441-448. Epub 2018 Feb 12.

Department of Biochemistry and Molecular Biology, Laboratory of Endocrinology, Metabolism-Nutrition, Oncology, Biology Pathology Center, CHRU Lille, 59037 Lille, France; Univ. Lille, RADEME - Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction, Lille, EA 7364, France; Inserm, Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.02.005DOI Listing
April 2018

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.

Clin Neurol Neurosurg 2018 03 30;166:1-3. Epub 2018 Jan 30.

CHU Bordeaux, Service de Génétique Médicale, F-33000 Bordeaux, France; Univ. Bordeaux, INSERM 1211, F-33000 Bordeaux, France.

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http://dx.doi.org/10.1016/j.clineuro.2018.01.013DOI Listing
March 2018

Chronic inflammatory demyelinating polyradiculoneuropathy-causing myelopathy.

Muscle Nerve 2018 02 17;57(2):E102-E103. Epub 2017 Aug 17.

Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux (Pellegrin Hospital), Place Amélie Raba-Léon, 33000, Bordeaux, France.

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http://dx.doi.org/10.1002/mus.25756DOI Listing
February 2018

History and current difficulties in classifying inherited myopathies and muscular dystrophies.

J Neurol Sci 2018 Jan 2;384:50-54. Epub 2017 Nov 2.

Department of Neurology, University Hospital Dupuytren, 2 avenue Martin Luther King, 87042 Limoges, France; National reference center 'neuropathies périphériques rares', University Hospital Dupuytren, 2 avenue Martin Luther King, 87042 Limoges, France. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.10.051DOI Listing
January 2018

Bent spine syndrome as the initial symptom of late-onset Pompe disease.

Muscle Nerve 2017 07 30;56(1):167-170. Epub 2016 Nov 30.

Rhumatologie, Hôpital Roger Salengro, Université de Lille 2, Centre Hospitalier Régional Universitaire de Lille, Lille, France.

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http://dx.doi.org/10.1002/mus.25478DOI Listing
July 2017

[The French Society of Myology shows some heart].

Med Sci (Paris) 2016 Nov 21;32 Hors série n°2. Epub 2016 Nov 21.

Organisateur des JSFM 2016.

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http://dx.doi.org/10.1051/medsci/201632s201DOI Listing
November 2016

Hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

Am J Med Genet A 2016 06 7;170(6):1570-2. Epub 2016 Mar 7.

Department of Dermatology and Pediatric Dermatology, National Reference Centre for Rare Disorders, Hôpital Saint-André, CHU Bordeaux, France.

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http://dx.doi.org/10.1002/ajmg.a.37601DOI Listing
June 2016

Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.

J Peripher Nerv Syst 2013 Jun;18(2):181-4

Institut des Maladies Neurodégénératives, CNRS UMR 5293, Université de Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1111/jns5.12028DOI Listing
June 2013

A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.

Neuromuscul Disord 2012 Aug 28;22(8):735-41. Epub 2012 Apr 28.

Institut des Maladies Neurodégénératives, CNRS UMR 5293, Univ. Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1016/j.nmd.2012.04.001DOI Listing
August 2012

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.

Eur J Med Genet 2012 May 8;55(5):313-8. Epub 2012 Feb 8.

CHU Bordeaux, Centre de référence des anomalies du développement embryonnaire, Service de Génétique Médicale, Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.01.018DOI Listing
May 2012

Teaching neuroimages: reversible ectropion in myasthenia gravis.

Neurology 2010 Apr;74(15):1239; author reply 1239

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http://dx.doi.org/10.1212/WNL.0b013e3181d2b88fDOI Listing
April 2010

A case of primary erythermalgia with encephalopathy.

J Neurol 2009 Oct 17;256(10):1767-8. Epub 2009 Jun 17.

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http://dx.doi.org/10.1007/s00415-009-5188-1DOI Listing
October 2009