Ramzi Nasir

Ramzi Nasir

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Ramzi Nasir

Ramzi Nasir

Publications by authors named "Ramzi Nasir"

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Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.

Proc Natl Acad Sci U S A 2016 09 6;113(38):E5598-607. Epub 2016 Sep 6.

Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI 02912; Institute for Brain Science, Brown University, Providence, RI 02912; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, East Providence, RI 02915;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035873PMC
http://dx.doi.org/10.1073/pnas.1609221113DOI Listing
September 2016

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.

Am J Hum Genet 2015 May 9;96(5):709-19. Epub 2015 Apr 9.

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570282PMC
May 2015

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.

Neurology 2013 Oct 27;81(16):1378-86. Epub 2013 Sep 27.

From the Division of Genetics (L.B.H., A.-T.N.L., R.S.H., J.N.P., M.A.-S., J.M.S., G.H.M.) and Division of Developmental Medicine (R.N.), Department of Medicine, and Howard Hughes Medical Institute (J.N.P.), Boston Children's Hospital, Boston, MA; Division of Child Neurology (A.M.), Department of Pediatrics, Jordan University Hospital, Amman, Jordan; Department of Anatomy (K.K., M.W.), Hokkaido University Graduate School of Medicine, Sapporo, Japan; Department of Physiology (W.K., M.Y.), School of Medicine, Keio University, Tokyo, Japan; Department of Pediatrics (E.L.-M., N.C.), New York Medical College, Valhalla, NY; Department of Pediatrics (M.A.-S.), Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates; Department of Pediatrics (R.N., J.M.S., G.H.M.), Harvard Medical School, Boston, MA; Department of Radiology and Biomedical Imaging (A.J.B.), University of California, San Francisco; and Pediatric Neurology Unit (G.H.M.), Department of Neurology, Massachusetts General Hospital, Boston.

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http://dx.doi.org/10.1212/WNL.0b013e3182a841a3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3806907PMC
October 2013

Diagnostic delay of autism in Jordan: review of 84 cases.

Libyan J Med 2013 Jan;8(1):21725

c Department of Developmental Behavioral Pediatrics Boston Children's Hospital, Harvard Medical School, Boston , MA , USA.

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http://dx.doi.org/10.3402/ljm.v8i0.21725DOI Listing
January 2013

Cognitive and behavioral characterization of 16p11.2 deletion syndrome.

J Dev Behav Pediatr 2010 Oct;31(8):649-57

Division of Developmental Medicine, Children's Hospital Boston, Boston, MA 02115, USA.

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https://insights.ovid.com/crossref?an=00004703-201010000-000
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http://dx.doi.org/10.1097/DBP.0b013e3181ea50edDOI Listing
October 2010