Andoni Urtizberea

Andoni Urtizberea

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Andoni Urtizberea

Andoni Urtizberea

Publications by authors named "Andoni Urtizberea"

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237th ENMC International Workshop: GNE myopathy - current and future research Hoofddorp, The Netherlands, 14-16 September 2018.

Neuromuscul Disord 2019 May 2;29(5):401-410. Epub 2019 Mar 2.

Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany; Centro Nacional de Análisis Genómico, Center for Genomic Regulation, Barcelona Institute of Science and Technology, Baldri I reixac 4, 08028 Barcelona, Spain; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Ontario, K1Y 4E9, Canada.

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http://dx.doi.org/10.1016/j.nmd.2019.02.010DOI Listing
May 2019

Leukoencephalopathy due to variants in associated congenital myasthenic syndrome.

Neurology 2019 Feb 11;92(6):e587-e593. Epub 2019 Jan 11.

From the Murdoch Children's Research Institute (G.H., C.S.), Parkville, Melbourne; Institute for Molecular Bioscience (G.H., J.C., C.S.), the University of Queensland, Brisbane, Australia; Neurology Division (S.S., B.P., P.J.), Department of Pediatrics, Lady Hardinge Medical College, New Delhi, India; Division of Neurology (P.J.), Department of Pediatrics, the Hospital for Sick Children, Toronto, Canada; Data61 (S.J.B.), Commonwealth Scientific and Industrial Research Organisation, Brisbane, Australia; Hôpital Marin (J.A.U.), Centre Neuromusculaire, Filnemus, Hendaye, France; Department of Pathology (R.K.S.), G.B. Pant Hospital, New Delhi, India; Illumina, Inc. (R.J.T.), San Diego, CA; Department of Child Neurology (M.S.v.d.K.), Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam and Amsterdam Neuroscience; and Department of Functional Genomics (M.S.v.d.K.), Neuroscience Campus Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000006886DOI Listing
February 2019

GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description.

Muscle Nerve 2018 11 3;58(5):700-707. Epub 2018 Oct 3.

Kuwait Medical Genetics Centre, Sabah Health District, Shuwaikh, Kuwait.

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http://dx.doi.org/10.1002/mus.26337DOI Listing
November 2018

[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS].

Med Sci (Paris) 2018 Nov 12;34 Hors série n°2:20-22. Epub 2018 Nov 12.

CHRU Montpellier, Laboratoire de Génétique moléculaire, Montpellier, France - APHM, Département de Génétique Médicale, Hôpital Timone Enfants, Marseille, France.

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https://www.medecinesciences.org/10.1051/medsci/201834s206
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http://dx.doi.org/10.1051/medsci/201834s206DOI Listing
November 2018

[SMA in France, how many patients ?]

Med Sci (Paris) 2018 Nov 12;34 Hors série n°2:32-34. Epub 2018 Nov 12.

Centre de Référence neuromusculaire, Paris-Île de France, Nord, Est, Paris, France.

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http://dx.doi.org/10.1051/medsci/201834s209DOI Listing
November 2018

233rd ENMC International Workshop:: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15-17 September 2017.

Neuromuscul Disord 2018 06 28;28(6):540-549. Epub 2018 Mar 28.

INTEGRARE, Genethon, Inserm, University of Evry, Université Paris-Saclay, Evry, 91002, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.03.010DOI Listing
June 2018

[Titin-related muscle disorders: an expanding spectrum].

Med Sci (Paris) 2017 Nov 15;33 Hors série n°1:16-26. Epub 2017 Nov 15.

Centre de compétence neuromusculaire Filnemus/Hôpital Marin, Hendaye, France.

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http://dx.doi.org/10.1051/medsci/201733s104DOI Listing
November 2017

[Episodes of recurrent pneumothorax in a patient with collagen VI-related congenital muscular dystrophy].

Med Sci (Paris) 2017 Nov 15;33 Hors série n°1:27-29. Epub 2017 Nov 15.

Hôpital Pierre-Zobda-Quitman, CHU de Martinique, Fort-de-France, Martinique, France.

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http://dx.doi.org/10.1051/medsci/201733s105DOI Listing
November 2017

Une cause inhabituelle d’hyperCKémie.

Med Sci (Paris) 2016 Nov 21;32 Hors série n°2:12-13. Epub 2016 Nov 21.

Hôpital Marin, Centre GNMH, FILNEMUS, Hendaye, France.

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http://dx.doi.org/10.1051/medsci/201632s204DOI Listing
November 2016

[Finland: an ideally valued genetic heritage].

Med Sci (Paris) 2016 Nov 21;32 Hors série n°2:52-54. Epub 2016 Nov 21.

Hôpital Marin, Centre GNMH, FILNEMUS, Hendaye, France.

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http://www.medecinesciences.org/10.1051/medsci/201632s215
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http://dx.doi.org/10.1051/medsci/201632s215DOI Listing
November 2016

Dysferlinopathy in Iran: Clinical and genetic report.

J Neurol Sci 2015 Dec 11;359(1-2):256-9. Epub 2015 Nov 11.

Aix Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France; Reference Center for Neuromuscular Disorders and ALS CHU La Timone Marseille, France.

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X153001
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http://dx.doi.org/10.1016/j.jns.2015.11.009DOI Listing
December 2015

[GNE myopathy].

Med Sci (Paris) 2015 Nov 6;31 Spec No 3:20-7. Epub 2015 Nov 6.

Praticien hospitalier, Institut de MyologieCHU Paris-GH La Pitié Salpêtrière, Centre de Référence de Pathologie Neuromusculaire Paris Est, France.

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http://dx.doi.org/10.1051/medsci/201531s306DOI Listing
November 2015

[Myology and ethnic minorities: all roads lead to the Roma].

Med Sci (Paris) 2015 Nov 6;31 Spec No 3:34-8. Epub 2015 Nov 6.

Department of Neurology, Sofia Medical University, Bulgarie.

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http://www.medecinesciences.org/10.1051/medsci/201531s310
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http://dx.doi.org/10.1051/medsci/201531s310DOI Listing
November 2015

Distal myopathy with rimmed vacuoles and inflammation: a genetically proven case.

Neurol India 2012 Nov-Dec;60(6):631-4

Department of Neurology, Nizam's Institute of Medical Sciences, Hyderabad, India.

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http://dx.doi.org/10.4103/0028-3886.105199DOI Listing
March 2015

New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease.

Neurol India 2013 Nov-Dec;61(6):622-6

Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

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http://dx.doi.org/10.4103/0028-3886.125269DOI Listing
March 2014

Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011.

Rev Neurol (Paris) 2012 Dec 30;168(12):910-8. Epub 2012 Apr 30.

Centre of Reference for neuromuscular diseases and ALS, University Teaching Hospital, CHU La Timone, 264 rue Saint-Pierre, Marseille, France.

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http://linkinghub.elsevier.com/retrieve/pii/S003537871200726
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http://dx.doi.org/10.1016/j.neurol.2011.11.008DOI Listing
December 2012

A novel CRYAB mutation resulting in multisystemic disease.

Neuromuscul Disord 2012 Jan 14;22(1):66-72. Epub 2011 Sep 14.

Centre de Référence des Maladies Neuromusculaires, Nice Hospital and UMR CNRS6543, Nice University, Nice, France.

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http://dx.doi.org/10.1016/j.nmd.2011.07.004DOI Listing
January 2012

Clinical and pathological features in 15 Chinese patients with calpainopathy.

Muscle Nerve 2011 Mar 9;43(3):402-9. Epub 2010 Dec 9.

Department of Neurology, Huashan Hospital, Fudan University, No. 12 Middle Wulumuqi Road, Shanghai 200040, China.

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http://dx.doi.org/10.1002/mus.21908DOI Listing
March 2011

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

Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.

Neurol India 2009 Jul-Aug;57(4):406-10

Department of Neurology, Grant Medical College and Sir JJ Group of Hospitals, Mumbai, India.

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http://dx.doi.org/10.4103/0028-3886.55603DOI 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

Dysferlinopathies.

Neurol India 2008 Jul-Sep;56(3):289-97

Assistance Publique Hopitaux de Paris, Hopital Marin, BP40139, 64700 Hendaye, France.

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June 2009

Phenotypic variability in giant axonal neuropathy.

Neuromuscul Disord 2009 Apr 23;19(4):270-4. Epub 2009 Feb 23.

Laboratoire de Recherche de Neurosciences, Université d'Alger, Service de Neurologie, Centre Hospitalier Universitaire Mustapha, 1 place du 1er Mai, Algiers 16000, Algeria.

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http://dx.doi.org/10.1016/j.nmd.2009.01.011DOI Listing
April 2009

A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.

EMBO Rep 2006 Apr 24;7(4):450-4. Epub 2006 Feb 24.

Institut National de la Santé et de la Recherche Médicale, U582, Institut de Myologie, IFR 14, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1038/sj.embor.7400648DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1456920PMC
April 2006

Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect.

Am J Med Genet A 2005 Oct;138A(2):118-26

Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1002/ajmg.a.30906DOI Listing
October 2005

[Clinical approach in myopathies].

Soins 2005 Sep(698):28-30

Institut de Myologie, Groupe Hospitalier Pitté-Salpêtrière.

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September 2005

Polymorphism of the D4Z4 locus associated with facioscapulohumeral muscular dystrophy 1A in Shanghai population.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005 Aug;22(4):380-2

Ruijin Hospital, Shanghai Second Medical University, Shanghai, 200025 PR China.

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August 2005

Looking under every rock: Duchenne muscular dystrophy and traditional Chinese medicine.

Neuromuscul Disord 2003 Nov;13(9):705-7

Hôpital Raymond Poincaré, Garches, Université Versailles-, St Quentin, France.

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November 2003

Evoked potentials in spinal muscular atrophy.

J Child Neurol 2003 Jun;18(6):383-90

Service d'Explorations Fonctionnelles, Hôpital R. Poincaré, CHU Paris-Ouest, Garches, France.

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http://dx.doi.org/10.1177/08830738030180061101DOI Listing
June 2003

Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands.

Neuromuscul Disord 2002 Mar;12(3):296-305

Department of Internal Medicine, University of Rome Tor Vergata, 135 Torre E sud, 2 degrees piano, stanza E202, 00133, Rome, Italy.

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March 2002

[Clinical-genetic classification of muscular dystrophies].

Med Clin (Barc) 1998 Sep;111(6):226-35

Servicio de Neurología, Hospital Nuestra Señora de Aránzazu, San Sebastián, País Vasco.

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September 1998