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Jon Andoni Urtizberea | Researchclopedia

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Jon Andoni Urtizberea

Sorbonne Université

127

Works

4,271

Citations

26

h-index

51

i10-index

Research Topics

Muscle Physiology and Disorders Neurogenetic and Muscular Disorders Research Genetic Neurodegenerative Diseases

Affiliations

University of Mary2020–2020

Commonwealth Scientific and Industrial Research Organisation2019–2019

Children's Medical Research Institute2019–2019

Inserm2004–2004

The University of Queensland2019–2019

Top Works

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

Eileen M. Shore,Meiqi Xu,et al.

20061,212 citations

Cardiomyopathy and Myosin Studies

Hereditary Neurological Disorders

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Katarina Pelin,Pirta Hilpelä,et al.

1999329 citations

Phenotypic Study in 40 Patients With Dysferlin Gene Mutations

Karine Nguyen,Guillaume Bassez,et al.

2007263 citations

C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy

Virginie Carmignac,Mustafa A. Salih,et al.

2007247 citations

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

Elena Bussaglia,Olivier Clermont,et al.

1995217 citations

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

Johann Böhm,Valérie Biancalana,et al.

2012136 citations

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey

Pervin Dinçer,France Leturcq,et al.

1997120 citations

Analysis of the<i>DYSF</i>mutational spectrum in a large cohort of patients

Martin Krahn,Christophe Béroud,et al.

2008117 citations

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

Rachel Susman,Susana Quijano-Roy,et al.

2010109 citations