Quasar S Padiath

Quasar S Padiath

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Quasar S Padiath

Quasar S Padiath

Publications by authors named "Quasar S Padiath"

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Autosomal Dominant Leukodystrophy: A Disease of the Nuclear Lamina.

Authors:
Quasar S Padiath

Front Cell Dev Biol 2019 20;7:41. Epub 2019 Mar 20.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, United States.

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https://www.frontiersin.org/article/10.3389/fcell.2019.00041
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http://dx.doi.org/10.3389/fcell.2019.00041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435485PMC
March 2019

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.

Neurol Genet 2019 Feb 24;5(1):e305. Epub 2019 Jan 24.

Department of Human Genetics (B.N., Q.S.P.), Graduate School of Public Health, University of Pittsburgh; Department of Medical Sciences (E.G., A.B.), University of Torino, Italy; Department of Radiology (R.R.), Uppsala University, Sweden; Department of Medical Genetics (A.L.), British Columbia Children's Hospital, Vancouver, Canada; Department of Genome Sciences (M. Spielmann), University of Washington, Seattle; Department of Pediatrics (M.K.K., R.A., M.K.), McGovern Medical School, University of Texas, Houston; Departments of Clinical Genomics and Neurology (R.G.), Mayo Clinic, Rochester, MN; Department of Pathology (M.A.), King Abdulaziz University, Jeddah, Saudi Arabia; Department of Medical Imaging (M. Sharma), Western University, London, Canada; Departments of Pathology and Clinical Neurological Sciences (R.H.), Western University and London Health Sciences Centre, Canada; Office of the Clinical Director (W.A.G., C.T.), NHGRI; and NIH Undiagnosed Diseases Program (W.A.G., C.T.), Office of the Director, NIH, Bethesda, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384018PMC
February 2019

Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies.

Authors:
Quasar S Padiath

Nucleus 2016 Nov;7(6):547-553

a Department of Human Genetics , Graduate School of Public Health, University of Pittsburgh , Pittsburgh , PA , USA.

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http://dx.doi.org/10.1080/19491034.2016.1260799DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5214339PMC
November 2016

CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation.

J Neurol Sci 2015 Nov 3;358(1-2):453-6. Epub 2015 Oct 3.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 DeSoto Street, Pittsburgh, PA 15261, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2015.10.002DOI Listing
November 2015

Lamin B1 duplications cause autosomal dominant leukodystrophy.

Nat Genet 2006 Oct 3;38(10):1114-23. Epub 2006 Sep 3.

Department of Neurology, University of California, San Francisco, San Francisco, California 94158, USA.

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http://dx.doi.org/10.1038/ng1872DOI Listing
October 2006

Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome.

Nature 2005 Mar;434(7033):640-4

Department of Neurology, University of California, San Francisco, San Francisco, California 94143-2922, USA.

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http://dx.doi.org/10.1038/nature03453DOI Listing
March 2005