Jon Andoni Urtizberea

Author

Also Known As

J A Urtizberea, J Andoni Urtizberea, J. A. Urtizberea, J. Andoni Urtizberea, J. Urtizberea, J.-A. Urtizberea, J.A Urtizberea, J.A. Urtizberea, JAndoni Urtizberea, Jon A. Urtizberea

127

Publications

4.2K

Citations

H-Index

Concepts

All Affiliations

Hôpital Marin de Hendaye Inserm Institut de Myologie Assistance Publique – Hôpitaux de Paris Sorbonne Université

About

Jon Andoni Urtizberea is an author at Hôpital Marin de Hendaye specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	19	25	2.3K
2	Health Sciences	6	6	150
3	Natural Sciences	2	2	109
4	Public Health	2	2	69
5	Social Sciences	2	2	61

Jon Andoni Urtizberea

Publications

3.9K

Citations

H-Index

Page 1

	Year	Citations
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva Eileen M. Shore, Meiqi Xu, George Feldman, Nature Genetics Recurrent MutationFibrosisSignal TransductionBmp TypeSporadic Fibrodysplasia Ossificans	2006	1.2K
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy Katarina Pelin, Pirta Hilpelä, Kati Donner, Proceedings of the National Academy of Sciences	1999	328
Phenotypic Study in 40 Patients With Dysferlin Gene Mutations Karine Nguyen, Guillaume Bassez, Martin Krahn, Archives of Neurology	2007	262
C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy Virginie Carmignac, Mustafa A. Salih, Susana Quijano‐Roy, Annals of Neurology	2007	245
A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients Elena Bussaglia, Olivier Clermont, Eduardo F. Tizzano, Nature Genetics GeneticsFrame–shift DeletionDegenerative DiseaseNeuroscienceNeurology	1995	217
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene, Human Mutation Peripheral NeuropathyMendelian DisorderAutoimmune DiseaseSkeletal MuscleGenetic Disorder	2012	135
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey Pervin Dinçer, France Leturcq, Isabelle Richard, Annals of Neurology	1997	120
Analysis of the<i>DYSF</i>mutational spectrum in a large cohort of patients Martin Krahn, Christophe Béroud, Véronique Labelle, Human Mutation	2008	116
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy Rachel Susman, Susana Quijano-Roy, Nan Yang, Neuromuscular Disorders Mri PhenotypePathologyDegenerative DiseaseNeuropathologyMedicine	2010	109
Spectrum of<i>HSPG2</i>(Perlecan) mutations in patients with Schwartz-Jampel syndrome Morgane Stum, Claire-Sophie Davoine, Savine Vicart, Human Mutation Hspg2 GeneMendelian DisorderSchwartz-jampel SyndromeGenetic DisorderMedicine	2006	104

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