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Jon Andoni Urtizberea

Affiliation : Association Francaise contre les Myopathies · Institut de Myologie · Pitié-Salpêtrière Hospital

• 9Publications (affiliation in France)
• 284Total publications
• 9213Citations
• 43h-index

ORCIDOpenAlex

Research profile

Jon Andoni Urtizberea has 9 indexed publications (1998–2025). Their work appears mainly in “Nature Genetics”, “Revue Neurologique” and “Neurogenetics”. Their most cited article, “Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy” (1998), has been cited 919 times. 2 of these publications date from the last three years of activity. Their work is co-authored with at least 12 researchers, including institutions in Belgium, Germany.

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Research areas

• Muscle Physiology and Disorders
• Genomics and Rare Diseases
• Neurogenetic and Muscular Disorders Research
• Cardiomyopathy and Myosin Studies
• Hereditary Neurological Disorders

Publications (9)

• Première description d’une myopathie de Bethlem en Tunisie : un cas clinique révélateur avec atteinte cardiaque précoce
  2025 · Revue Neurologique
• Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
  2023 · Nature Genetics · cited 28 times
• NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study
  2021 · Neurogenetics · cited 12 times
• Un cas de myasthénie congénitale des ceintures résolu grâce à une collaboration tripartite
  2021 · médecine/sciences · cited 2 times
• Progressive pseudorheumatoid dysplasia in North and West Africa: Clinical description in ten patients with mutations of WISP3
  2017 · Egyptian Journal of Medical Human Genetics · cited 10 times
• Phenotypic variability in giant axonal neuropathy
  2009 · Neuromuscular Disorders · cited 61 times
• Spectrum ofHSPG2(Perlecan) mutations in patients with Schwartz-Jampel syndrome
  2006 · Human Mutation · cited 106 times
• Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)
  2000 · Nature Genetics · cited 294 times
• Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
  1998 · Nature Genetics · cited 919 times

Publication venues

• Nature Genetics × 3
• Revue Neurologique × 1
• Neurogenetics × 1
• médecine/sciences × 1
• Egyptian Journal of Medical Human Genetics × 1
• Neuromuscular Disorders × 1

Publications per year

• 20251
• 20231
• 20212
• 20171
• 20091
• 20061
• 20001
• 19981

Collaborations

Partner institutions : Inserm · Assistance Publique – Hôpitaux de Paris · Université Pierre-et-Marie-Curie · Sorbonne Université · Centre de Recherche Saint-Antoine

Co-authors’ countries : Belgium · Germany

Co-authors

• Claire-Sophie Davoine
• Bertrand Fontaine
• Sophie Nicole
• Jean‐Michel Vallat
• El Hadi Hammouda
• Delphine Steinbach Samson
• Canh P. Quan
• Susana Quijano-Roy
• Hadi Hammouda
• Léna Guillot‐Noël
• Michel Fardeau
• Jean Weissenbach

Bibliographic data from OpenAlex (open database).