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Recessive Pathogenic GMPPB Variants Cause a Childhood Onset Myasthenic Syndrome Responsive to Pyridostigmine.
Jewett, Gordon; Beland, Benjamin; Khayambashi, Shahin; Silverstein, Sarah; Donkervoort, Sandra; Bönnemann, Carsten G; Pfeffer, Gerald; Chhibber, Sameer.
Afiliação
  • Jewett G; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Beland B; Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Khayambashi S; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Silverstein S; Department of Internal Medicine, Division of Neurology, University of British Columbia, Vancouver, BC, Canada.
  • Donkervoort S; Rutgers New Jersey Medical School, Newark, NJ, USA.
  • Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Pfeffer G; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Chhibber S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Can J Neurol Sci ; : 1-3, 2023 Sep 08.
Article em En | MEDLINE | ID: mdl-37681231

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Can J Neurol Sci Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Canadá

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Can J Neurol Sci Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Canadá