Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Jay A. vanGerpen"'
Autor:
Angela B. Deutschlander, Takuya Konno, Alexandra I. Soto‐Beasley, Ronald L. Walton, Jay A. vanGerpen, Ryan J. Uitti, Michael G. Heckman, Zbigniew K. Wszolek, Owen A. Ross
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1557-1563 (2020)
Abstract Objective To determine whether distinct microtubule‐associated protein tau MAPT H1 subhaplotypes are associated with clinical and demographic features in Parkinson’s disease. Methods A retrospective cohort study included 855 unrelated Ca
Externí odkaz:
https://doaj.org/article/eec7aa4a232c4597b7bd767393b8c22b
Autor:
John E. Richter Jr., Charitha Vadlamudi, Sarah K. Macklin, Ayesha Samreen, Haytham Helmi, Daniel Broderick, Ahmed N. Mohammad, Stephanie L. Hines, Jay A. VanGerpen, Paldeep S. Atwal, Thomas R. Caulfield
Publikováno v:
Case Reports in Genetics, Vol 2020 (2020)
Background. The ATP-binding cassette, subfamily D, member 1 (ABCD1) protein is a peroxisomal half-transporter that allows for very long chain fatty acid (VLCFA) degradation. Pathogenic variants of ABCD1 cause VLCFAs to build up in various tissues and
Externí odkaz:
https://doaj.org/article/e2976b88cf5e4e80a013a27f5f823bb8
Autor:
Stephanie L. Hines, Thomas R. Caulfield, Charitha Vadlamudi, Paldeep S. Atwal, Ayesha Samreen, Ahmed N. Mohammad, Daniel F. Broderick, Sarah Macklin, John E. Richter, Jay A. VanGerpen, Haytham Helmi
Publikováno v:
Case Reports in Genetics, Vol 2020 (2020)
Case Reports in Genetics
Case Reports in Genetics
Background The ATP-binding cassette, subfamily D, member 1 (ABCD1) protein is a peroxisomal half-transporter that allows for very long chain fatty acid (VLCFA) degradation. Pathogenic variants of ABCD1 cause VLCFAs to build up in various tissues and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db67940459a6c4cef849424c81d525b0
https://eprints.gla.ac.uk/220338/1/220338.pdf
https://eprints.gla.ac.uk/220338/1/220338.pdf
Autor:
Hilary J. Vernon, Weiyi Mu, Jay A. VanGerpen, David S. Zee, Erik H. Middlebrooks, Siddharth Srivastava, Sonal Mahida, Sakku Bai Naidu, Paldeep S. Atwal, Andrea Poretti, Ankur Butala, John E. Richter
Publikováno v:
American journal of medical genetics. Part A. 179(8)
Biallelic pathogenic variants in AARS2, a gene encoding the mitochondrial alanyl-tRNA synthetase, result in a spectrum of findings ranging from infantile cardiomyopathy to adult-onset progressive leukoencephalopathy. In this article, we present three
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::795d0f13fddb16e3595877ebdd864553
https://pubmed.ncbi.nlm.nih.gov/31099476
https://pubmed.ncbi.nlm.nih.gov/31099476