A homozygous mutation inSLC1A4in siblings with severe intellectual disability and microcephaly-Reference-Cited by-同舟云学术

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A homozygous mutation inSLC1A4in siblings with severe intellectual disability and microcephaly

Published:2015-05-28 Issue:1 Volume:88 Page:E1-E4
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Srour M.¹²,Hamdan F. F.²,Gan-Or Z.³⁴,Labuda D.²⁵,Nassif C.²,Oskoui M.¹,Gana-Weisz M.⁶,Orr-Urtreger A.⁶⁷,Rouleau G.A.³⁴⁸,Michaud J.L.²⁵⁹

Affiliation:

1. Division of Pediatric Neurology; Montreal Children's Hospital, McGill University Health Center; Montreal Canada

2. CHU Sainte-Justine Research Center; Montreal Canada

3. Montreal Neurological Institute; McGill University; Montreal H3A 2B4 Canada

4. Department of Human Genetics; McGill University; Montreal Canada

5. Department of Pediatrics; Université de Montréal; Montreal Canada

6. The Genetic Institute; Tel-Aviv Sourasky Medical Center; Tel-Aviv Israel

7. Sackler Faculty of Medicine; Tel-Aviv University; Tel-Aviv Israel

8. Department of Neurology and Neurosurgery; McGill University; Montreal Canada

9. Department of Neurosciences; Université de Montréal; Montreal Canada

Funder

Jean-Louis Levesque

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference10 articles.

1. The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect?;Orr-Urtreger;Neurology,2007

2. A novel metabolic communication between neurons and astrocytes: non-essential amino acid L-serine released from astrocytes is essential for developing hippocampal neurons;Mitoma;Neurosci Res,1998

3. Novel neuroglial and glioglial relationships mediated by L-serine metabolism;Furuya;Arch Histol Cytol,2003

4. 3-Phosphoglycerate dehydrogenase, a key enzyme for l-serine biosynthesis, is preferentially expressed in the radial glia/astrocyte lineage and olfactory ensheathing glia in the mouse brain;Yamasaki;J Neurosci,2001

5. Characterization of rapid and high-affinity uptake of L-serine in neurons and astrocytes in primary culture;Yamamoto;FEBS Lett,2003

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