Search details
1.
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
Proc Natl Acad Sci U S A
; 113(38): E5598-607, 2016 09 20.
Article
in English
| MEDLINE | ID: mdl-27601654
2.
Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth.
Neuron
; 49(1): 41-53, 2006 Jan 05.
Article
in English
| MEDLINE | ID: mdl-16387638
3.
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
Am J Med Genet B Neuropsychiatr Genet
; 153B(4): 937-47, 2010 Jun 05.
Article
in English
| MEDLINE | ID: mdl-20468056
4.
SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity.
Neuron
; 37(3): 383-401, 2003 Feb 06.
Article
in English
| MEDLINE | ID: mdl-12575948
5.
Identifying autism loci and genes by tracing recent shared ancestry.
Science
; 321(5886): 218-23, 2008 Jul 11.
Article
in English
| MEDLINE | ID: mdl-18621663
6.
An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.
Am J Med Genet A
; 140(14): 1504-10, 2006 Jul 15.
Article
in English
| MEDLINE | ID: mdl-16761294
7.
Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation.
Hum Mol Genet
; 14(5): 679-91, 2005 Mar 01.
Article
in English
| MEDLINE | ID: mdl-15661755
Results
1 -
7
de 7
1
Next >
>>