Publications by authors named "Mala Isrie"

9Publications

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy.

Neurology 2016 Jun 4;86(23):2162-70. Epub 2016 May 4.

From the Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences (A.S., C.S., N.V., P.A.M.d.W.), and Laboratory for the Genetics of Cognition (M.I.), University of Leuven; Center for Human Genetics (M.I., H.V.E.) and Child Neurology (L.L., G.M.B.), University Hospitals Leuven; Department of Biological Sciences (Y.L., M.G.), Hunter College of City University, New York; and Graduate Program in Biology/Neuroscience at City University (Y.L.), New York, NY.

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http://dx.doi.org/10.1212/WNL.0000000000002752DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898311PMC
June 2016

Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities.

Eur J Med Genet 2015 Apr 24;58(4):205-10. Epub 2015 Feb 24.

Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium; Laboratory for the Genetics of Cognition, KU Leuven, Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.02.006DOI Listing
April 2015

Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.

Am J Med Genet A 2014 Jun 25;164A(6):1576-9. Epub 2014 Mar 25.

Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.36486DOI Listing
June 2014

HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability.

Eur J Med Genet 2013 Jul 27;56(7):379-82. Epub 2013 May 27.

Center for Human Genetics, University Hospitals Leuven, KU Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2013.05.005DOI Listing
July 2013