Detalhe da pesquisa
1.
Genotype-phenotype correlations in recessive titinopathies.
Genet Med
; 22(12): 2029-2040, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32778822
2.
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.
Muscle Nerve
; 58(6): 812-817, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30066418
3.
The increasing importance of environmental conditions in amyotrophic lateral sclerosis.
Int J Biometeorol
; 62(8): 1361-1374, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29713861
4.
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Genome Med
; 15(1): 68, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37679823
5.
Copy number variation analysis increases the diagnostic yield in muscle diseases.
Neurol Genet
; 3(6): e204, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30238059
6.
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
Sci Rep
; 7(1): 6677, 2017 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28751717
7.
Targeting TDP-43 phosphorylation by Casein Kinase-1δ inhibitors: a novel strategy for the treatment of frontotemporal dementia.
Mol Neurodegener
; 11(1): 36, 2016 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27138926
8.
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.
Nat Commun
; 7: 11067, 2016 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27063795
9.
Large-scale recent expansion of European patrilineages shown by population resequencing.
Nat Commun
; 6: 7152, 2015 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25988751