Detalhe da pesquisa
1.
Non-Ceruloplasmin Copper Identifies a Subtype of Alzheimer's Disease (CuAD): Characterization of the Cognitive Profile and Case of a CuAD Patient Carrying an RGS7 Stop-Loss Variant.
Int J Mol Sci
; 24(7)2023 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37047347
2.
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
Eur Heart J
; 42(32): 3063-3073, 2021 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34263907
3.
A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation.
J Hum Genet
; 59(3): 153-7, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24401908
4.
Neuropsychological Profile of Hereditary Ataxias: Study of 38 Patients.
Arch Clin Neuropsychol
; 37(5): 904-915, 2022 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35484833
5.
A novel mutation of RASA1 in capillary malformation-arteriovenous malformation syndrome in a case with spinal cord involvement.
Clin Neurol Neurosurg
; 195: 105965, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32485551
6.
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency.
Neurologist
; 18(5): 306-9, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22931740
7.
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.
Eur J Hum Genet
; 20(12): 1203-8, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22643181
8.
Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2).
J Mol Diagn
; 12(5): 601-6, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20616365