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Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.
Spataro, Rossella; Kousi, Maria; Farhan, Sali M K; Willer, Jason R; Ross, Jay P; Dion, Patrick A; Rouleau, Guy A; Daly, Mark J; Neale, Benjamin M; La Bella, Vincenzo; Katsanis, Nicholas.
Affiliation
  • Spataro R; IRCCS Centro Neurolesi Bonino Pulejo, Palermo, Italy.
  • Kousi M; Center for Human Disease Modeling, Duke University Medical Center, Carmichael Building, 300 North Duke Street, Suite 48-118, Durham, NC, 27701, USA.
  • Farhan SMK; MIT Computer Science and Artificial Intelligence Laboratory (CSAIL), Cambridge, MA, USA.
  • Willer JR; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Ross JP; Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Dion PA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Rouleau GA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Daly MJ; Center for Human Disease Modeling, Duke University Medical Center, Carmichael Building, 300 North Duke Street, Suite 48-118, Durham, NC, 27701, USA.
  • Neale BM; Montreal Neurological Institute, and Hospital, McGill University, Montréal, QC, Canada.
  • La Bella V; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Katsanis N; Montreal Neurological Institute, and Hospital, McGill University, Montréal, QC, Canada.
Hum Genomics ; 13(1): 19, 2019 04 16.
Article in En | MEDLINE | ID: mdl-30992063
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Full text: 1 Database: MEDLINE Main subject: Proton-Translocating ATPases / Genetic Predisposition to Disease / Amyotrophic Lateral Sclerosis Type of study: Prognostic_studies / Risk_factors_studies Limits: Adult / Animals / Female / Humans / Male / Middle aged Language: En Journal: Hum Genomics Journal subject: GENETICA Year: 2019 Type: Article Affiliation country: Italy
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Proton-Translocating ATPases / Genetic Predisposition to Disease / Amyotrophic Lateral Sclerosis Type of study: Prognostic_studies / Risk_factors_studies Limits: Adult / Animals / Female / Humans / Male / Middle aged Language: En Journal: Hum Genomics Journal subject: GENETICA Year: 2019 Type: Article Affiliation country: Italy