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SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins.
Lone, Museer A; Aaltonen, Mari J; Zidell, Aliza; Pedro, Helio F; Morales Saute, Jonas A; Mathew, Shalett; Mohassel, Payam; Bönnemann, Carsten G; Shoubridge, Eric A; Hornemann, Thorsten.
Affiliation
  • Lone MA; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Aaltonen MJ; Montreal Neurological Institute and.
  • Zidell A; Department of Human Genetics, McGill University, Montreal, Canada.
  • Pedro HF; Center for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack, New Jersey, USA.
  • Morales Saute JA; Center for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack, New Jersey, USA.
  • Mathew S; Center for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack Meridian School of Medicine, Hackensack, New Jersey, USA.
  • Mohassel P; Medical Genetics Division and Neurology Division, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
  • Bönnemann CG; Graduate Program in Medicine, Medical Sciences, and Internal Medicine Department, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • Shoubridge EA; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Hornemann T; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
J Clin Invest ; 132(18)2022 09 15.
Article in En | MEDLINE | ID: mdl-35900868
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hereditary Sensory and Autonomic Neuropathies / Neurodegenerative Diseases / Amyotrophic Lateral Sclerosis / Membrane Proteins Type of study: Risk_factors_studies Limits: Humans Language: En Journal: J Clin Invest Year: 2022 Document type: Article Affiliation country: Suiza
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hereditary Sensory and Autonomic Neuropathies / Neurodegenerative Diseases / Amyotrophic Lateral Sclerosis / Membrane Proteins Type of study: Risk_factors_studies Limits: Humans Language: En Journal: J Clin Invest Year: 2022 Document type: Article Affiliation country: Suiza