Publications by authors named "Jon Andoni Urtizberea"

20Publications

Toward an objective measure of functional disability in dysferlinopathy.

Muscle Nerve 2016 Jan 23;53(1):49-57. Epub 2015 May 23.

Unidad Neuromuscular, Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santos Dumont 999, 2do. piso, Sector E. Independencia, 8380456, Santiago, Chile.

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http://dx.doi.org/10.1002/mus.24685DOI Listing
January 2016

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.

Neurol India 2014 Nov-Dec;62(6):635-9

Aix Marseille University, GMGF, 13385; Inserm, UMR_S 910, 13385; Department of Medical Genetics and Cell Biology, APHM, Children's Hospital La Timone, 13385, Marseille, France.

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http://search.proquest.com/openview/e70fd22cb0c480c42d20ceb3
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http://dx.doi.org/10.4103/0028-3886.149386DOI Listing
March 2015

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

Iranian neurological events: The second Iranian congress of neuromuscular disorders.

Iran J Neurol 2012 ;11(3):125-6

School of Myology, Institute of Myology, Paris AND GNMH Neuromuscular reference center, Marine hospital, Hendaye, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3829254PMC
November 2013

Refined mapping of the HMSNR critical gene region--construction of a high-density integrated genetic and physical map.

Neuromuscul Disord 2003 Nov;13(9):729-36

Western Australian Institute for Medical Research and Centre for Medical Research, University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1016/s0960-8966(03)00098-1DOI Listing
November 2003