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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento, Andres; Bruels, Christine C; Donkervoort, Sandra; Foley, A Reghan; Codina, Anna; Milisenda, Jose C; Estrella, Elicia A; Li, Chengcheng; Pijuan, Jordi; Draper, Isabelle; Hu, Ying; Stafki, Seth A; Pais, Lynn S; Ganesh, Vijay S; O'Donnell-Luria, Anne; Syeda, Safoora B; Carrera-García, Laura; Expósito-Escudero, Jessica; Yubero, Delia; Martorell, Loreto; Pinal-Fernandez, Iago; Lidov, Hart G W; Mammen, Andrew L; Grau-Junyent, Josep M; Ortez, Carlos; Palau, Francesc; Ghosh, Partha S; Darras, Basil T; Jou, Cristina; Kunkel, Louis M; Hoenicka, Janet; Bönnemann, Carsten G; Kang, Peter B; Natera-de Benito, Daniel.
Afiliação
  • Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, Barcelona, Spain.
  • Bruels CC; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
  • Donkervoort S; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Foley AR; Department of Neurology, Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, 420 Delaware Street SE, MMC 295, Minneapolis, MN, 55455, USA.
  • Codina A; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Milisenda JC; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Estrella EA; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
  • Li C; Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Pijuan J; Department of Internal Medicine, Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain.
  • Draper I; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
  • Hu Y; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
  • Stafki SA; Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL, 32610, USA.
  • Pais LS; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Ganesh VS; Laboratory of Neurogenetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
  • O'Donnell-Luria A; Molecular Cardiology Research Institute, Tufts Medical Center, Boston, MA, 02111, USA.
  • Syeda SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Carrera-García L; Department of Neurology, Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, 420 Delaware Street SE, MMC 295, Minneapolis, MN, 55455, USA.
  • Expósito-Escudero J; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
  • Yubero D; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Martorell L; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Pinal-Fernandez I; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
  • Lidov HGW; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Mammen AL; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Grau-Junyent JM; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA.
  • Ortez C; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
  • Palau F; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Ghosh PS; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Darras BT; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Jou C; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, Barcelona, Spain.
  • Kunkel LM; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
  • Hoenicka J; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, Barcelona, Spain.
  • Bönnemann CG; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
  • Kang PB; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Natera-de Benito D; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Acta Neuropathol ; 145(4): 479-496, 2023 04.
Article em En | MEDLINE | ID: mdl-36799992
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neuropeptídeos / Transtorno do Espectro Autista / Distrofias Musculares Tipo de estudo: Prognostic_studies Limite: Animals / Child / Humans Idioma: En Revista: Acta Neuropathol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Espanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neuropeptídeos / Transtorno do Espectro Autista / Distrofias Musculares Tipo de estudo: Prognostic_studies Limite: Animals / Child / Humans Idioma: En Revista: Acta Neuropathol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Espanha