Norma B Romero

Norma B Romero

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Norma B Romero

Norma B Romero

Publications by authors named "Norma B Romero"

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X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures.

Neuromuscul Disord 2019 Sep 19;29(9):678-683. Epub 2019 Jun 19.

APHP, Department of Neurology, Raymond Poincaré Hospital, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, 104 Bld Raymond Poincaré, 92380 Garches, France; Service de Neurologie, U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR Simone Veil-Santé, Université Versailles-Saint-Quentin-en-Yvelines, Pôle neuro-locomoteur, Hôpital Raymond Poincaré, Paris-Saclay, 104 boulevard Raymond Poincaré, 92380 Garches, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.06.009DOI Listing
September 2019

A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1.

Eur J Hum Genet 2019 03 5;27(3):337-339. Epub 2018 Oct 5.

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

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http://www.nature.com/articles/s41431-018-0250-z
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http://dx.doi.org/10.1038/s41431-018-0250-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460556PMC
March 2019

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.

Muscle Nerve 2019 01 16;59(1):137-141. Epub 2018 Dec 16.

Unité de Morphologie Neuromusculaire, Institut de Myologie, Sorbonne University, INSERM UMR 974, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, 75013, Paris, France.

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http://dx.doi.org/10.1002/mus.26305DOI Listing
January 2019

Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.

Muscle Nerve 2018 05 22;57(5):E122-E124. Epub 2017 Dec 22.

Myology Institute, Neuromuscular Pathology Reference Center, Groupe Hospitalier Universitaire La Pitié-Salpêtrière; Sorbonne Universités UPMC Univ Paris 06, Paris, France.

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http://dx.doi.org/10.1002/mus.26030DOI Listing
May 2018

Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation.

Neuromuscul Disord 2017 Jan 14;27(1):78-82. Epub 2016 Oct 14.

Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2016.10.006DOI Listing
January 2017

[About the technique of muscle biopsy (III). The contribution of elctron microscopy, yesterday, and at the time of the molecular genetics era. A historical overview].

Med Sci (Paris) 2016 Nov 21;32 Hors série n°2:6-9. Epub 2016 Nov 21.

Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1051/medsci/201632s202DOI Listing
November 2016

Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).

Neuromuscul Disord 2016 10 29;26(10):712-716. Epub 2016 Jul 29.

I-Motion - Research Center for Pediatric Neuromuscular Diseases, Armand Trousseau Hospital, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.07.011DOI Listing
October 2016

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.

Neuromuscul Disord 2016 10 25;26(10):681-687. Epub 2016 Jul 25.

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France; Filière Nationale de Maladies Neuromusculaires (FILNEMUS), Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.07.005DOI Listing
October 2016

Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.

Muscle Nerve 2016 08 22;54(2):192-202. Epub 2016 Feb 22.

Assistance Publique des Hôpitaux de Paris, Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Université de Versailles-St Quentin, U1179 UVSQ-INSERM, France.

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http://dx.doi.org/10.1002/mus.25018DOI Listing
August 2016

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.

J Neuromuscul Dis 2016 03;3(1):111-114

Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.3233/JND-150125DOI Listing
March 2016

Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy.

Muscle Nerve 2015 Nov 18;52(5):895-9. Epub 2015 Jun 18.

UPMC Université Paris 06, Institut National de la Santé et de la Recherche Médicale UMR 974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, Sorbonne Universités, 47 Boulevard de l'Hôpital, 75013, Paris, France.

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http://dx.doi.org/10.1002/mus.24699DOI Listing
November 2015

Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.

Eur J Med Genet 2015 Oct 25;58(10):556-61. Epub 2015 Sep 25.

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.09.009DOI Listing
October 2015

Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.

Muscle Nerve 2014 Dec 30;50(6):1011-6. Epub 2014 Oct 30.

Unidad de Neurología. Departamento de Pediatría, Clínica las Condes, Lo Fontecilla 441, Las Condes, Santiago, Chile.

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http://dx.doi.org/10.1002/mus.24353DOI Listing
December 2014

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

A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

Ann Neurol 2014 Dec 31;76(6):891-8. Epub 2014 Oct 31.

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden; Myology Institute, Neuromuscular Morphology Unit, Pierre and Marie Curie University, Pitié-Salpêtrière University Hospital Group, Sorbonne Universities, Paris, France.

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http://dx.doi.org/10.1002/ana.24284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4348070PMC
December 2014

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.

J Neurol Neurosurg Psychiatry 2014 Oct 14;85(10):1149-52. Epub 2014 May 14.

Department of Translational Medicine and Neurogenetics, IGBMC, Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France Université de Strasbourg, Illkirch, France Collège de France, chaire de génétique humaine, Illkirch, France.

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http://dx.doi.org/10.1136/jnnp-2013-306754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173876PMC
October 2014

Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin.

Medicine (Baltimore) 2014 May;93(3):150-7

From the AP-HP, Hôpital Pitié-Salpêtrière, Department of Internal Medicine 1 and Inflammation-Immunopathology-Biotherapy Department (I2B), East Paris Neuromuscular Diseases Reference Center, Inserm U974, Université Pierre et Marie Curie, Paris 6, Paris (YA, AR, SH, O. Benveniste); Inserm, U905, Immunology Department, Normandie Univ, IRIB and Rouen University Hospital (LD, FJ, JM, O. Boyer); AP-HP, Hôpital Pitié-Salpêtrière, Department of Immunochemistry, Université Pierre et Marie Curie, Paris 6, Paris (JLC, LM); AP-HP, Hôpital Pitié-Salpêtrière, Institute of Myology, Unite de Morphologie Musculaire, CNRS-UMR7215, Paris (NBR); AP-HP, Hôpital Pitié-Salpêtrière, Department of Neuropathology, Université Pierre et Marie Curie, Paris 6, Paris (TM, OD); AP-HP, Hôpital Pitié-Salpêtrière, Department of Neurology, East Paris Neuromuscular Diseases Reference Center, Université Pierre et Marie Curie, Paris 6, Paris (AB, PL, TS, BE); AP-HP, Hôpital Cochin Centre de Référence Maladies Auto-Immunes et Systémiques Rares, Service de Médecine Interne Pôle Médecine, Université René Descartes Paris V, Paris (NCC, BT); APHM, Hôpital la Timone, Centre de Référence des Maladies Neuromusculaires, Marseille (ECS); Clermont-Ferrand University Hospital, Department of Rheumatology, Clermont-Ferrand (AT); AP-HP, Hôpital Necker, Department of Paediatric Rheumatology, Paris (BBM); AP-HP, Hôpital Bicêtre, Department of Paediatric Rheumatology, Kremlin-Bicêtre, Paris (IKP); CHU Strasbourg, Department of Rheumatology, Strasbourg (JS); Hôpital Pitié-Salpêtrière, Institute of Myology, Paris (LS); AP-HP, Hôpital Jean Verdier, Department of Internal Medicine, La Seine-Saint-Denis (OF); AP-HP, Hôpital Avicenne, Department of Internal Medicine, Bobigny (CL); CHRU Tours, Department of Internal Medicine, Tours (ED); Fondation A. de Rothschild, Department of Neurology, Paris (RDP); AP-HP, Hôpital Bichat, Department of Internal Medicine, Paris (AD); CHU Rennes,

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http://dx.doi.org/10.1097/MD.0000000000000028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4632910PMC
May 2014

POLG mutations associated with remitting/relapsing neurological events.

J Clin Neurosci 2014 Jan 2;21(1):186-8. Epub 2013 Jul 2.

Service de Neurologie et Faculté de Médecine, Université Champagne-Ardenne CHU de Reims, Reims, France; Laboratoire de psychopathologie et Neuropsychologie, EA2027 Université Paris, France.

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http://dx.doi.org/10.1016/j.jocn.2013.03.019DOI Listing
January 2014

Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.

Neuromuscul Disord 2013 Dec 2;23(12):992-7. Epub 2013 Oct 2.

Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Department of Neurological, Neurosurgical, and Behavioral Sciences, University of Siena, Siena, Italy; Inserm, U974, Paris F-75013, France; Université Pierre et Marie Curie-Paris 6, UM 76, CNRS, UMR 7215, Institut de Myologie, IFR14, Paris F-75013, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966130054
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http://dx.doi.org/10.1016/j.nmd.2013.07.003DOI Listing
December 2013

Recent advances in nemaline myopathy.

Curr Opin Neurol 2013 Oct;26(5):519-26

Institut de Myologie, Groupe Hospitalier-Universitaire La Pitié-Salpêtrière, AP-HP, UPMC-Paris6 UR76, INSERM UMR974, CNRS UMR 7215, Paris, France.

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http://dx.doi.org/10.1097/WCO.0b013e328364d681DOI Listing
October 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

Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency.

J Neurol Sci 2012 May 23;316(1-2):173-7. Epub 2012 Feb 23.

Unité de Morphologie Neuromusculaire Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/j.jns.2012.01.027DOI Listing
May 2012

Centronuclear myopathies.

Semin Pediatr Neurol 2011 Dec;18(4):250-6

Unit of Neuromuscular Morphology, Institute of Myology, Inserm UMRS 974, CNRS UMR 7215, UPMC-University Paris 6 UM76, GHU Pitié-Salpêtrière, France.

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http://linkinghub.elsevier.com/retrieve/pii/S107190911100091
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http://dx.doi.org/10.1016/j.spen.2011.10.006DOI Listing
December 2011

Myositis or dystrophy? Traps and pitfalls.

Presse Med 2011 Apr 4;40(4 Pt 2):e249-55. Epub 2011 Mar 4.

Université Pierre et Marie Curie, Assistance publique-Hôpitaux de Paris, groupe hospitalier Pitié-Salpêtrière, hôpital Pitié-Salpêtrière, service de médecine interne 1, 75013 Paris cedex 13, France.

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http://dx.doi.org/10.1016/j.lpm.2010.11.023DOI Listing
April 2011

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.

Eur J Med Genet 2009 Jul-Aug;52(4):201-6. Epub 2008 Dec 27.

Inserm, U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, UPMC University Paris 06, UMR_S582, IFR14, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2008.12.004DOI Listing
November 2009

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.

Hum Mutat 2009 Oct;30(10):1419-27

Institut National de la Santé et de la Recherche Médicale, U582, Institut de Myologie, Paris, France.

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http://dx.doi.org/10.1002/humu.21086DOI Listing
October 2009

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

Ann Neurol 2008 Aug;64(2):177-86

Assistance Publique-Hôpitaux de Paris, Service de Pédiatrie, Hôpital Universitaire Raymond Poincaré, Centre National de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye, Garches, France.

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http://dx.doi.org/10.1002/ana.21417DOI Listing
August 2008

Mutations in TPM3 are a common cause of congenital fiber type disproportion.

Ann Neurol 2008 Mar;63(3):329-37

Institute for Neuromuscular Research, Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1002/ana.21308DOI Listing
March 2008

Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.

Neuromuscul Disord 2008 Jan 14;18(1):45-51. Epub 2007 Sep 14.

Glycobiology Research Group, Tokyo Metropolitan Institute of Gerontology, Foundation for Research on Aging and Promotion of Human Welfare, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.nmd.2007.08.002DOI Listing
January 2008

Nemaline myopathy caused by absence of alpha-skeletal muscle actin.

Ann Neurol 2007 Feb;61(2):175-84

Centre for Medical Research, University of Western Australia, Nedlands, Australia, and Centre for Inherited Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, Oswestry, UK.

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http://dx.doi.org/10.1002/ana.21035DOI Listing
February 2007

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.

Brain 2006 Jun 3;129(Pt 6):1463-9. Epub 2006 Apr 3.

Institut National de la Santé et de la Recherche Médicale U582, Institut de Myologie IFR14, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1093/brain/awl071DOI Listing
June 2006

[Mutations in dynamin 2 cause dominant centronuclear myopathy].

Med Sci (Paris) 2006 Feb;22(2):101-2

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http://dx.doi.org/10.1051/medsci/2006222101DOI Listing
February 2006

Mutations in dynamin 2 cause dominant centronuclear myopathy.

Nat Genet 2005 Nov 16;37(11):1207-9. Epub 2005 Oct 16.

INSERM U582, Institute of Myology, IFR14, Groupe Hospitalier Pitié-Salpêtrière, UPMC, 47 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.

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http://dx.doi.org/10.1038/ng1657DOI Listing
November 2005

[About a phase I gene therapy clinical trial with a full-length dystrophin gene-plasmid in Duchenne/Becker muscular dystrophy].

J Soc Biol 2005 ;199(1):29-32

Institut de Myologie et Inserm U582, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtriere, 75651 Paris.

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October 2005

Exercise tolerance and daily life in McArdle's disease.

Muscle Nerve 2005 May;31(5):637-41

Laboratoire de Physiologie Neuromusculaire, Institut de Myologie, GH Pitié-Salpêtrière, 75651 Paris, France.

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http://dx.doi.org/10.1002/mus.20251DOI Listing
May 2005

Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

Ann Neurol 2003 Apr;53(4):537-42

Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, London, United Kingdom.

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http://dx.doi.org/10.1002/ana.10559DOI Listing
April 2003

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency.

Neuromuscul Disord 2002 Jun;12(5):466-75

Service de Pédiatrie, Rééducation et Réanimation Neurorespiratoire, Hôpital Raymond-Poincaré, Garches, France.

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June 2002