Detalhe da pesquisa
1.
MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.
Mol Genet Metab;
119(4): 329-337, 2016 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27802905
2.
A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers.
Neurogenetics;
15(2): 101-6, 2014 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24478108
3.
ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.
Eur J Hum Genet;
24(11): 1578-1583, 2016 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27026573
4.
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.
Orphanet J Rare Dis;
11(1): 142, 2016 10 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27776540
5.
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
Hum Mutat;
25(1): 100, 2005 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15605411
6.
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
Hum Mutat;
20(3): 234-5, 2002 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12204005
7.
Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L).
Epilepsia;
45(9): 1154-7, 2004 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15329082