Detalhe da pesquisa
1.
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
Hum Mutat
; 34(2): 296-300, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23086778
2.
Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder.
Cerebellum
; 12(4): 596-9, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23436002
3.
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
Ann Neurol
; 68(5): 611-8, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20853438
4.
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
em Inglês
| MEDLINE | ID: mdl-19105190
5.
A case of dystonia with onset during pregnancy.
J Neurol Sci
; 260(1-2): 265-6, 2007 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17509615
6.
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
Orphanet J Rare Dis
; 10: 22, 2015 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-25888393
7.
Antibodies to dorsal root ganglia and olfactory cells in a patient with chronic sensory neuropathy and anosmia.
J Neurol Sci
; 221(1-2): 105-8, 2004 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15178223
8.
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.
Hum Mol Genet
; 13(18): 2155-63, 2004 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15269180
9.
Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.
J Lipid Res
; 43(11): 1908-19, 2002 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-12401890