Detalhe da pesquisa
1.
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Brain
; 135(Pt 10): 2980-93, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23065789
2.
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Hum Mutat
; 32(10): 1118-27, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21618648
3.
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Brain
; 132(Pt 7): 1753-63, 2009 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-19491146
4.
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.
Hum Mutat
; 30(3): 397-405, 2009 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-19191339
5.
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Hum Mutat
; 30(3): E500-19, 2009 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-19105190
6.
Mental deficiency in three families with SPG4 spastic paraplegia.
Eur J Hum Genet
; 16(1): 97-104, 2008 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-17957230
7.
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.
J Med Genet
; 44(4): 281-4, 2007 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-17098887
8.
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.
Hum Mutat
; 27(4): 389, 2006 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-16541393
9.
Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.
Am J Med Genet A
; 155A(12): 3170-3, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-22065487
10.
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.
J Mol Med (Berl)
; 89(9): 915-25, 2011 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-21505799
11.
A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP.
Neurogenetics
; 8(3): 231-3, 2007 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-17597328