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ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.
Morini, Elisabetta; Gao, Dadi; Montgomery, Connor M; Salani, Monica; Mazzasette, Chiara; Krussig, Tobias A; Swain, Brooke; Dietrich, Paula; Narasimhan, Jana; Gabbeta, Vijayalakshmi; Dakka, Amal; Hedrick, Jean; Zhao, Xin; Weetall, Marla; Naryshkin, Nikolai A; Wojtkiewicz, Gregory G; Ko, Chien-Ping; Talkowski, Michael E; Dragatsis, Ioannis; Slaugenhaupt, Susan A.
Afiliação
  • Morini E; Center for Genomic Medicine, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA 02114, USA.
  • Gao D; Center for Genomic Medicine, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA 02114, USA.
  • Montgomery CM; Center for Genomic Medicine, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA 02114, USA.
  • Salani M; Center for Genomic Medicine, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA 02114, USA.
  • Mazzasette C; Department of Biological Sciences, Section of Neurobiology, University of Southern California, Los Angeles, CA 90089, USA.
  • Krussig TA; Center for Genomic Medicine, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA 02114, USA.
  • Swain B; Center for Genomic Medicine, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA 02114, USA.
  • Dietrich P; Department of Physiology, the University of Tennessee, Health Science Center, Memphis, TN 38163, USA.
  • Narasimhan J; PTC Therapeutics, Inc., South Plainfield, NJ 07080, USA.
  • Gabbeta V; PTC Therapeutics, Inc., South Plainfield, NJ 07080, USA.
  • Dakka A; PTC Therapeutics, Inc., South Plainfield, NJ 07080, USA.
  • Hedrick J; PTC Therapeutics, Inc., South Plainfield, NJ 07080, USA.
  • Zhao X; PTC Therapeutics, Inc., South Plainfield, NJ 07080, USA.
  • Weetall M; PTC Therapeutics, Inc., South Plainfield, NJ 07080, USA.
  • Naryshkin NA; PTC Therapeutics, Inc., South Plainfield, NJ 07080, USA.
  • Wojtkiewicz GG; Center for Systems Biology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA 02114, USA.
  • Ko CP; Department of Biological Sciences, Section of Neurobiology, University of Southern California, Los Angeles, CA 90089, USA.
  • Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA 02114, USA.
  • Dragatsis I; Department of Physiology, the University of Tennessee, Health Science Center, Memphis, TN 38163, USA.
  • Slaugenhaupt SA; Center for Genomic Medicine, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA 02114, USA. Electronic address: slaugenhaupt@mgh.harvard
Am J Hum Genet ; 104(4): 638-650, 2019 04 04.
Article em En | MEDLINE | ID: mdl-30905397
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Propriocepção / Disautonomia Familiar / Splicing de RNA / Fatores de Elongação da Transcrição / Cinetina Tipo de estudo: Prognostic_studies Limite: Animals / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Propriocepção / Disautonomia Familiar / Splicing de RNA / Fatores de Elongação da Transcrição / Cinetina Tipo de estudo: Prognostic_studies Limite: Animals / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos