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GGPS1-associated muscular dystrophy with and without hearing loss.
Kaiyrzhanov, Rauan; Perry, Luke; Rocca, Clarissa; Zaki, Maha S; Hosny, Heba; Araujo Martins Moreno, Cristiane; Phadke, Rahul; Zaharieva, Irina; Camelo Gontijo, Clara; Beetz, Christian; Pini, Veronica; Movahedinia, Mojtaba; Zanoteli, Edmar; DiTroia, Stephanie; Vuillaumier-Barrot, Sandrine; Isapof, Arnaud; Mehrjardi, Mohammad Yahya Vahidi; Ghasemi, Nasrin; Sarkozy, Anna; Muntoni, Francesco; Whalen, Sandra; Vona, Barbara; Houlden, Henry; Maroofian, Reza.
Afiliação
  • Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • Perry L; The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street, Institute of Child Health and MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street Hospital, London, UK.
  • Rocca C; MRC UCL International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD), London, UK.
  • Zaki MS; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • Hosny H; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, 12622, Cairo, Egypt.
  • Araujo Martins Moreno C; National Institute of Neuromotor System, Cairo, Egypt.
  • Phadke R; Diagnostic Department, Centogene GmbH, 18055, Rostock, Germany.
  • Zaharieva I; Department of Neurology, School of Medicine of Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Camelo Gontijo C; The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street, Institute of Child Health and MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street Hospital, London, UK.
  • Beetz C; The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street, Institute of Child Health and MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street Hospital, London, UK.
  • Pini V; Department of Neurology, School of Medicine of Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Movahedinia M; Diagnostic Department, Centogene GmbH, 18055, Rostock, Germany.
  • Zanoteli E; The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street, Institute of Child Health and MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street Hospital, London, UK.
  • DiTroia S; Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Vuillaumier-Barrot S; Department of Neurology, School of Medicine of Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Isapof A; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Mehrjardi MYV; Service de Biochimie et génétique, APHP, Hôpital Bichat-Claude Bernard, 75018, Paris, France.
  • Ghasemi N; Service de neuropédiatrie, APHP, Sorbonne Université, Hôpital Armand Trousseau, 75012, Paris, France.
  • Sarkozy A; Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Muntoni F; Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, 8916978477, Yazd, Iran.
  • Whalen S; The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street, Institute of Child Health and MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street Hospital, London, UK.
  • Vona B; MRC UCL International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD), London, UK.
  • Houlden H; The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street, Institute of Child Health and MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street Hospital, London, UK.
  • Maroofian R; MRC UCL International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD), London, UK.
Ann Clin Transl Neurol ; 9(9): 1465-1474, 2022 09.
Article em En | MEDLINE | ID: mdl-35869884
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Insuficiência Ovariana Primária / Surdez / Dimetilaliltranstransferase / Perda Auditiva / Distrofias Musculares Tipo de estudo: Risk_factors_studies Limite: Female / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Insuficiência Ovariana Primária / Surdez / Dimetilaliltranstransferase / Perda Auditiva / Distrofias Musculares Tipo de estudo: Risk_factors_studies Limite: Female / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article