Andoni Urtizberea

2.5k citations

27 papers · 796 indexed · h-index 15

Molecular Biology
Cellular and Molecular Neuroscience top 10%
Cell Biology top 10%
Genetics top 10%
Cardiology and Cardiovascular Medicine

Co-authors: Kate Bushby Rachael A. Hughes Francesco Muntoni Robert C. Griggs Rafaëlle Bernard France Leturcq Pascale Guicheney Norma B. Romero
Topics: Muscle Physiology and Disorders (14 papers)Neurogenetic and Muscular Disorders Research (6 papers)Genetic Neurodegenerative Diseases (5 papers)
Cited by: Genetics Cellular and Molecular Neuroscience Cell Biology
Journals: Neurology Muscle & Nerve Human Mutation
Partner nations: France Germany Italy

In The Last Decade

Andoni Urtizberea

25 papers receiving 777 citations

Peers

Countries citing papers authored by Andoni Urtizberea

Since Specialization

Citations

This map shows the geographic impact of Andoni Urtizberea's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Andoni Urtizberea with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Andoni Urtizberea more than expected).

Fields of papers citing papers by Andoni Urtizberea

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Andoni Urtizberea. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Andoni Urtizberea. The network helps show where Andoni Urtizberea may publish in the future.

Co-authorship network of co-authors of Andoni Urtizberea

This figure shows the co-authorship network connecting the top 25 collaborators of Andoni Urtizberea. A scholar is included among the top collaborators of Andoni Urtizberea based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Andoni Urtizberea. Andoni Urtizberea is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	261P Insights into facioscapulohumeral dystrophy in African individuals: clinical and molecular findings from a collaborative study 2024 ·Neuromuscular Disorders ·Pedro M. Rodríguez Cruz,(unknown),(unknown),Kanendra Naidu,Josef G. Heckmann,(unknown),Edoardo Malfatti,(unknown),France Leturcq,Andoni Urtizberea,(unknown),Bakri Elsheikh,Sergi Beltrán,(unknown),M. Ndiaye,Robert Hodes,Nicol C. Voermans,(unknown),Silvère M. van der Maarel,(unknown)	1
2	Novel Homozygous Pathogenic Mutations of LAMA 2 Gene in Patients with Congen ital Muscular Dystrophy. 2021 ·PubMed ·(unknown),(unknown),(unknown),(unknown),(unknown),Andoni Urtizberea,Ehsan Razmara,Massoud Houshmand	2
3	Current Management of Duchenne Muscular Dystrophy in the Middle East: Expert Report 2019 ·Neurodegenerative Disease Management ·Mohammed Al Jumah,(unknown),(unknown),(unknown),(unknown),Edward Cupler,Mohammed M. Jan,(unknown),(unknown),(unknown),(unknown),(unknown),Lailá Bastaki,André Mégarbané,Cristina Skrypnyk,Gholamreza Zamani,Sylvie Tuffery‐Giraud,Andoni Urtizberea,C. Ortez	11
4	GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description 2018 ·Muscle & Nerve ·(unknown),Oksana Pogoryelova,(unknown),(unknown),(unknown),(unknown),Andoni Urtizberea,Hanns Lochmüller,Lailá Bastaki	8
5	Validité de la description d’un groupe spécifique de patients par le PMSI-SSR 2015 ·Revue d Épidémiologie et de Santé Publique ·José Guerra,(unknown),(unknown),(unknown),(unknown),Marie‐Christine Rousseau,(unknown),Andoni Urtizberea,(unknown)	3
6	Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations. 2013 ·PubMed ·Bita Bozorgmehr,Ariana Kariminejad,Shahriar Nafissi,(unknown),Andoni Urtizberea,Corine Gartioux,C. Ledeuil,Valérie Allamand,Pascale Richard,(unknown)	9
7	A novel CRYAB mutation resulting in multisystemic disease 2011 ·Neuromuscular Disorders ·Sabrina Sacconi,Léonard Feasson,Jean Christophe Antoine,Christophe Pécheux,Rafaëlle Bernard,Ana María Cobo,Alberto Casarin,Leonardo Salviati,Claude Desnuelle,Andoni Urtizberea	72
8	Peripheral Nerve Society Guideline on processing and evaluation of nerve biopsies 2010 ·Journal of the Peripheral Nervous System ·Claudia Sommer,Sebastian Brandner,P. James B. Dyck,Yadollah Harati,Catherine Lacroix,Martin Lammens,Laurent Magy,Svein Ivar Mellgren,Michela Morbin,(unknown),Henry C. Powell,Angelo Schenone,Ersin Tan,Andoni Urtizberea,Joachim Weis	51
9	Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis 2009 ·Human Mutation ·Marc Bitoun,Anne‐Cécile Durieux,Bernard Prudhon,Jorge A. Bevilacqua,Adrien Herlédan,Vehary Sakanyan,Andoni Urtizberea,Luis Cartier,Norma B. Romero,Pascale Guicheney	67
10	Phenotypic variability in giant axonal neuropathy 2009 ·Neuromuscular Disorders ·Mériem Tazir,Sonia Nouioua,Laurent Magy,Kathrin Huehne,Salima Assami,Andoni Urtizberea,Djamel Grid,Tarik Hamadouche,Bernd Rautenstrauß,Jean‐Michel Vallat	40
11	Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: High prevalence of 525del T 2009 ·Neurology India ·(unknown),(unknown),Madhuri Hegde,Andoni Urtizberea,Donald R. Love,Belinda Chong	19
12	Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies 2005 ·Human Mutation ·Karine Nguyen,Guillaume Bassez,Rafaëlle Bernard,Martin Krahn,Véronique Labelle,Dominique Figarella‐Branger,Jean Pouget,(unknown),Christophe Béroud,Andoni Urtizberea,B. Eymard,France Leturcq,Nicolas Lévy	92
13	Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy 2005 ·Neurology ·S. Lucioli,Betti Giusti,Eugenio Mercuri,Olga Camacho Vanegas,Laura Lucarini,(unknown),Andoni Urtizberea,Rabah Ben Yaou,Marianne de Visser,Anneke J. van der Kooi,(unknown),Susan T. Iannaccone,Luciano Merlini,K. Bushby,Francesco Muntoni,Enrico Bertini,Mon‐Li Chu,Guglielmina Pepe	42
14	125th ENMC International Workshop: Neuromuscular Disorders in the Roma (Gypsy) Population, 23–25 April 2004, Naarden, The Netherlands 2004 ·Neuromuscular Disorders ·Luba Kalaydjieva,Hanns Lochmüller,Ivailo Tournev,Frank Baas,Judit Béres,J. Colomer,Velina Guergueltcheva,Ralf Herrmann,Veronika Karcagi,R. H. M. King,Toshiyuki Miyata,Andrea Müllner-Eidenböck,Tomohiko Okuda,Vedrana Milić Rašić,(unknown),Beril Talim,Juan J. Vílchez,Maggie C. Walter,Andoni Urtizberea,Luciano Merlini	22
15	Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature 2004 ·American Journal of Medical Genetics Part A ·David Geneviève,Jeanne Amiel,Géraldine Viot,M. Le Merrer,Damien Sanlaville,Andoni Urtizberea,(unknown),A Munnich,Valérie Cormier‐Daire,Stanislas Lyonnet	58
16	Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids 2–4 April 2004, Naarden, The Netherlands 2004 ·Neuromuscular Disorders ·Kate Bushby,Francesco Muntoni,Andoni Urtizberea,Rachael A. Hughes,Robert C. Griggs	114
17	Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy 2002 ·Guglielmina Pepe,Enrico Bertini,Paolo Bonaldo,K. Bushby,Marianne de Visser,Betti Giusti,Pascale Guicheney,Luciano Merlini,Francesco Muntoni,Ichizo Nishino,(unknown),Patrizia Sabatelli,C. Sewry,Haluk Topaloğlu,Andoni Urtizberea,Anneke J. van der Kooi	27
18	Homogeneous phenotype of the gypsy limb-girdle MD with the γ-sarcoglycan C283Y mutation 2000 ·Neurology ·Luciano Merlini,(unknown),Carmen Navarro,A Barois,Dominique Bonneau,(unknown),Bernard Échenne,P. Gallano,Laura Jarre,Marc Jeanpierre,Luba Kalaydjieva,France Leturcq,(unknown),Annick Toutain,Ivailo Tournev,Andoni Urtizberea,Jean‐Michel Vallat,Thomas Voït,J Warter	42
19	66th/67th ENMC Sponsored International Workshop: The Limb-Girdle Muscular Dystrophies 26–28 March 1999, Naarden, The Netherlands 1999 ·Neuromuscular Disorders ·J. Beckmann,Robert H. Brown,Francesco Muntoni,Andoni Urtizberea,Carsten G. Bönnemann,Kate Bushby	25
20	Clinical aspects of neuromuscular diseases 1997 ·Pediatric Pulmonology ·Isabelle Desguerre,Andoni Urtizberea	1

About Andoni Urtizberea

Andoni Urtizberea is a scholar working on Genetics, Developmental Biology and Cellular and Molecular Neuroscience, having authored 27 papers that have together received 796 indexed citations. Recurring topics across this work include Muscle Physiology and Disorders (14 papers), Neurogenetic and Muscular Disorders Research (6 papers) and Genetic Neurodegenerative Diseases (5 papers). The work is most often cited by research in Genetics (155 citations), Cellular and Molecular Neuroscience (203 citations) and Cell Biology (161 citations). Andoni Urtizberea has collaborated with scholars based in France, Germany and Italy. Frequent co-authors include Kate Bushby, Rachael A. Hughes, Francesco Muntoni, Robert C. Griggs, Rafaëlle Bernard, France Leturcq, Pascale Guicheney, Norma B. Romero, Alberto Casarin and Véronique Labelle. Their work appears in journals such as Neurology, Muscle & Nerve and Human Mutation.

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