Detalhe da pesquisa
1.
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.
Hum Mutat
; 35(3): 356-67, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24375629
2.
Dystonic tremor caused by mutation of the glucose transporter gene GLUT1.
J Inherit Metab Dis
; 34(2): 483-8, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21229316
3.
The multiple faces of the ATP1A3-related dystonic movement disorder.
Mov Disord
; 28(10): 1457-9, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23483595
4.
A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood.
Orphanet J Rare Dis
; 12(1): 160, 2017 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969699
5.
Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood.
JIMD Rep
; 15: 7-12, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-24532324
6.
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Eur J Med Genet
; 58(9): 443-54, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26193382
7.
Rett syndrome: an overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?
Mov Disord
; 22(3): 387-9, 2007 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17216643
8.
Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency.
Mov Disord
; 21(2): 263-6, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16161143
9.
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
Mov Disord
; 20(10): 1366-9, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15986423
10.
Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation.
Mov Disord
; 19(3): 344-6, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15022193
11.
Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.
Ann Genet
; 47(3): 241-9, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15337469