Detalhe da pesquisa
1.
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Brain
; 142(1): 59-69, 2019 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30561534
2.
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
Hum Mol Genet
; 24(16): 4483-90, 2015 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25954030
3.
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Hum Mol Genet
; 23(22): 6069-80, 2014 Nov 15.
Artigo
Inglês
| MEDLINE | ID: mdl-24939913
4.
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
Hum Mol Genet
; 22(7): 1417-23, 2013 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-23297359
5.
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.
Am J Hum Genet
; 90(6): 1102-7, 2012 Jun 08.
Artigo
Inglês
| MEDLINE | ID: mdl-22608501
6.
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.
Ann Neurol
; 74(3): 496-501, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23686771
7.
Glucose metabolism transporters and epilepsy: only GLUT1 has an established role.
Epilepsia
; 55(2): e18-21, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24483274
8.
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Brain
; 136(Pt 10): 3140-50, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-24014518
9.
Recent advances in the molecular genetics of epilepsy.
J Med Genet
; 50(5): 271-9, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23468209
10.
Identification of three novel hearing loss mouse strains with mutations in the Tmc1 gene.
Am J Pathol
; 180(4): 1560-9, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22330676
11.
An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice.
Am J Pathol
; 179(2): 903-14, 2011 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21689626
12.
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.
Epilepsia
; 53(12): e204-7, 2012 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23106342
13.
Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.
Am J Hum Genet
; 83(4): 468-78, 2008 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-18940309
14.
Advances in Molecular and Cellular Therapies for Hearing Loss.
Mol Ther
; 16(2): 224-236, 2008 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-28178538
15.
Advances in molecular and cellular therapies for hearing loss.
Mol Ther
; 16(2): 224-36, 2008 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-18223547
16.
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.
J Clin Invest
; 114(6): 837-45, 2004 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-15372108
17.
Gene expression profiling analysis of the inner ear.
Hear Res
; 225(1-2): 1-10, 2007 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-17300888
18.
Detection of mutations in genes associated with hearing loss using a microarray-based approach.
J Mol Diagn
; 8(4): 483-9; quiz 528, 2006 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-16931589
19.
Cochlear implants for DFNA17 deafness.
Laryngoscope
; 116(12): 2211-5, 2006 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-17146397
20.
Gene expression changes during step-wise differentiation of embryonic stem cells along the inner ear hair cell pathway.
Acta Otolaryngol
; 126(11): 1148-57, 2006 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-17050306