Valerie Biancalana

Valerie Biancalana

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Valerie Biancalana

Valerie Biancalana

Publications by authors named "Valerie Biancalana"

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Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.

J Inherit Metab Dis 2019 Sep 8;42(5):803-808. Epub 2019 Apr 8.

Neurology Department, Hôpital Raymond Poincaré, Paris, France.

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http://dx.doi.org/10.1002/jimd.12087DOI Listing
September 2019

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.

J Neuromuscul Dis 2017;4(4):349-355

Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud university medical centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.3233/JND-170238DOI Listing
July 2019

X-linked myotubular myopathy: A prospective international natural history study.

Neurology 2019 Apr 22;92(16):e1852-e1867. Epub 2019 Mar 22.

From I-Motion (M.A., C.L., T.G., E.G., V.C., L.S.), Institute of Myology, Paris, France; Paediatric Neurology and Neuromuscular Center (U.S., A.G.), University of Essen, Germany; Unit of Neuromuscular and Neurodegenerative Disorders (A. D'Amico), Department of Neurosciences, Bambino Gesu Children's Research Hospital IRCCS, Rome, Italy; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.), Hospital for Sick Children, Toronto, Canada; Boston Children's Hospital (B.T.D.), MA; Centre de Référence Neuromusculaire (A. Daron), CHR La Citadelle, Liège, Belgium; UCI Pediatrica (A.H.), Hospital Puerta del Mar, Cadiz, Spain; Centre de Référence Maladies Neuromusculaires Adulte (C.d.L.), Hôpital de la Croix-Rousse, Hospices Civils de Lyon; Service de Réanimation Polyvalente (J.-M.A.), Hôpital Sainte Musse, Toulon; Centre de Référence des Maladies Neuromusculaires d'Ile de France-Nord et Est (M.M.), Hôpital Armand Trousseau, Paris; Service de Neuropédiatrie Hôpital Roger Salengro (J.-M.C.), CHRU, Lille; Service de Rééducation Pédiatrique "L'Escale" (C.V., S.F.), Hôpital Mère Enfant, CHU-Lyon, France; CeRCa (R.B.), Hôpital Pierre-Zobda-Quitman, CHU de Martinique, Fort-de-France, Martinique; Laboratoire Diagnostic Génétique (V.B.), Nouvel Hôpital Civil, Strasbourg; Genethon (A.B.-B.), UMR S951 Inserm, Univ Evry, Université Paris Saclay, Evry; Neuromuscular Investigation Center (J.-Y.H.), Institute of Myology, Paris, France; and Valerion Therapeutics (H.L.), Concord, MA.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000007319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550499PMC
April 2019

Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.

J Neuromuscul Dis 2018 ;5(2):257-260

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.

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http://dx.doi.org/10.3233/JND-170265DOI Listing
November 2018

A Roma founder mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

Neurology 2018 07 27;91(4):e339-e348. Epub 2018 Jun 27.

From the Unidad de Enfermedades Neuromusculares, Department of Neurology (M.C.-S., C.P.), Instituto de Biomedicina de Sevilla (IBiS) (M.C.-S., F.M., C.P.), and Department of Pathology, Neuropathology Unit (E.R.), Hospital Universitario Virgen del Rocío, Sevilla, Spain; Laboratoire Diagnostic Génétique (V.B.), Faculté de Médecine-CHRU, Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (V.B., R.Á., J.L.), Illkirch, France; Harry Perkins Institute of Medical Research and Centre for Medical Research (B.M., N.G.L., L.K.), University of Western Australia, Nedlands; Department of Pathology (Neuropathology) (A.H.-L.), Hospital Universitario 12 de Octubre, Madrid Research Institute; Neuropathology Unit (M.O.), Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Department of Neurology and IIS La Fe (N.M., J.J.V.), Hospital Universitari i Politècnic La Fe, Valencia; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (N.M., J.D.-M., J.J.V.); Department of Neurology (E.K.), Consulta de Enfermedades Neuromusculares y Unidad de ELA, Hospital General Universitario Santa Lucía, Cartagena, Murcia; Department of Neurology (A.C.), Hospital Virgen de las Nieves, Granada; Department of Neurology (P.Q.), Hospital Torrecárdenas, Almería; Unidad de Enfermedades Neuromusculares (J.D.-M.), Department of Neurology, Universidad Autónoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Diagnostic Genomics (M.D.), PathWest Laboratory Medicine WA, Perth, Australia; Department of Neurology (C.D.), Hospital 12 de Octubre, Madrid, Spain; Unité de Morphologie Neuromusculaire (N.B.R.), Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris; Université Sorbonne (N.B.R.), UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Department of Medicine (J.J.V.), Universitat de Valencia; Department of Experimental and Health Sciences (D.C.), Institute of Evolutionary Biology (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain; Centre National de la Recherche Scientifique (J.L.), UMR7104, Illkirch; and Institut National de la Santé et de la Recherche Médicale (J.L.), U964, Illkirch, France.

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http://dx.doi.org/10.1212/WNL.0000000000005862DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070382PMC
July 2018

Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysis.

BMJ Case Rep 2018 Jun 11;2018. Epub 2018 Jun 11.

Neurologie, Hopitaux universitaires de Strasbourg, Strasbourg, France.

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22427
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http://dx.doi.org/10.1136/bcr-2018-224272DOI Listing
June 2018

HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

Acta Neuropathol 2017 07 13;134(1):163-165. Epub 2017 May 13.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Illkirch, France.

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http://dx.doi.org/10.1007/s00401-017-1724-8DOI Listing
July 2017

Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.

Can J Neurol Sci 2017 Jan 17;44(1):125-127. Epub 2016 Oct 17.

6Departamento de NeurologiaFaculdade de Medicina,Universidade de São PauloAvenida Dr. Enéas de Carvalho Aguiar 2555 andar,sala 5131,Cerqueira Cesar05403-900,Sao Paulo,Brazil.

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http://dx.doi.org/10.1017/cjn.2016.322DOI Listing
January 2017

A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels.

Pediatr Neurol 2016 05 6;58:107-12. Epub 2016 Feb 6.

Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.01.023DOI Listing
May 2016

Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.

J Neuromuscul Dis 2015 Sep;2(3):193-203

Department of Translational Medicine and Neurogenetics, IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.3233/JND-150092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240547PMC
September 2015

Integrative data mining highlights candidate genes for monogenic myopathies.

PLoS One 2014 29;9(10):e110888. Epub 2014 Oct 29.

Dept. of Translational Medicine and Neurogenetics, IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, Strasbourg, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0110888PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213015PMC
June 2015

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Brain 2014 Dec 25;137(Pt 12):3160-70. Epub 2014 Sep 25.

1 IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France 2 Inserm, U964, 67404 Illkirch, France 3 CNRS, UMR7104, 67404 Illkirch, France 4 Université de Strasbourg, 67404 Illkirch, France 5 Collège de France, Chaire de Génétique Humaine, 67404 Illkirch, France

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http://brain.oxfordjournals.org/content/brain/137/12/3160.fu
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu272DOI Listing
December 2014

Extensive morphological and immunohistochemical characterization in myotubular myopathy.

Brain Behav 2013 Jul 19;3(4):476-86. Epub 2013 Jun 19.

Unité de Morphologie Neuromusculaire, Institut de Myologie GHU La Pitié-Salpêtrière, Paris, France ; Groupe Hospitalier-Universitaire La Pitié-Salpêtrière, AP-HP, Centre de référence des maladies neuromusculaires Paris-Est, Paris, France ; UPMC-Paris6 UR76, INSERM UMR974, CNRS UMR 7215, Institut de Myologie GHU La Pitié-Salpêtrière, Paris, France.

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http://doi.wiley.com/10.1002/brb3.147
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http://dx.doi.org/10.1002/brb3.147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869686PMC
July 2013

Clinical utility gene card for: Centronuclear and myotubular myopathies.

Eur J Hum Genet 2012 Oct 23;20(10). Epub 2012 May 23.

Laboratoire de Diagnostic Génétique, Faculté de Médecine-CHRU, 1 place de l'Hôpital, Strasbourg, France.

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http://dx.doi.org/10.1038/ejhg.2012.91DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3449068PMC
October 2012

Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype.

Eur J Hum Genet 2012 Jun 18;20(6):701-4. Epub 2012 Jan 18.

Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France.

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http://www.nature.com/articles/ejhg2011256
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http://dx.doi.org/10.1038/ejhg.2011.256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3355254PMC
June 2012

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

Mutation studies in X-linked myotubular myopathy in three Indian families.

Indian J Pediatr 2010 Apr 31;77(4):431-3. Epub 2010 Mar 31.

Center of Medical Genetics, Department of Neonatology, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.

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http://dx.doi.org/10.1007/s12098-010-0057-6DOI Listing
April 2010

SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases.

Hum Mutat 2010 Feb;31(2):127-35

Département de Biologie et Génomique Structurales, Institut de Génétique et de Biologie Moléculaire et Cellulaire (UMR7104), Centre National de la Recherche Scientifique/Institut National de la Santé et de la Recherche Médicale/Université de Strasbourg, Illkirch, France.

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http://doi.wiley.com/10.1002/humu.21155
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http://dx.doi.org/10.1002/humu.21155DOI Listing
February 2010

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.

Neuromuscul Disord 2007 Dec 6;17(11-12):955-9. Epub 2007 Sep 6.

Département de Neurologie, Hôpital Civil de Strasbourg, 1 Place de l'Hôpital, BP426, 67091 Strasbourg, France.

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http://dx.doi.org/10.1016/j.nmd.2007.06.467DOI Listing
December 2007

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

Nat Genet 2007 Sep 5;39(9):1134-9. Epub 2007 Aug 5.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Department of Molecular Pathology, F-67400 Illkirch, France.

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http://www.nature.com/doifinder/10.1038/ng2086
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http://dx.doi.org/10.1038/ng2086DOI Listing
September 2007

X-linked myotubular myopathy: report of a case with novel mutation.

J Child Neurol 2007 Apr;22(4):447-51

Department of Histopathology University of Szeged, Szeged, Hungary.

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http://dx.doi.org/10.1177/0883073807301930DOI Listing
April 2007

Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study.

Neuromuscul Disord 2007 Feb 23;17(2):180-5. Epub 2007 Jan 23.

Centre de référence Maladies Neuromusculaires rares Nantes-Angers, Centre Hospitalier Universitaire d'Angers, 4 rue Larrey, F-49033 Angers, France.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660600580
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http://dx.doi.org/10.1016/j.nmd.2006.10.008DOI Listing
February 2007

Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions.

Acta Neuropathol 2004 Jul 27;108(1):81-7. Epub 2004 Apr 27.

Laboratoire de Neuropathologie Raymond Escourolle, INSERM U360, Association Claude Bernard, Hôpital de La Salpêtrière, 47 boulevard de l'Hôpital, 75651, Paris cedex 13, France.

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http://dx.doi.org/10.1007/s00401-004-0855-xDOI Listing
July 2004

Fragile X disease.

Methods Mol Med 2004 ;92:157-82

Laboratory of Diagnostic Genetics, Faculty of Medicine, University of Strasbourg, France.

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April 2004

Clinical, cytogenetic, and molecular description of a FRAXE French family.

Psychiatr Genet 2003 Mar;13(1):43-6

Laboratoire de Génétique, Hôpital E Herriot, Lyon, France.

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http://dx.doi.org/10.1097/01.ypg.0000054710.85338.15DOI Listing
March 2003

Genotype-phenotype correlations in X-linked myotubular myopathy.

Neuromuscul Disord 2002 Dec;12(10):939-46

Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.

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December 2002