Detalhe da pesquisa
1.
Internal validation and improvement of mitochondrial genome sequencing using the Precision ID mtDNA Whole Genome Panel.
Int J Legal Med
; 135(6): 2295-2306, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34491421
2.
Troponin T in spinal and bulbar muscular atrophy (SBMA).
J Neurol Sci
; 456: 122816, 2024 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38071852
3.
Assessing Pharmacogenomic loci Associated with the Pharmacokinetics of Vamorolone in Boys with Duchenne Muscular Dystrophy.
J Clin Pharmacol
; 2024 Apr 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38682893
4.
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.
J Neuromuscul Dis
; 11(2): 285-297, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38363615
5.
Italian version of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS): validation and longitudinal performance.
J Neurol
; 270(3): 1452-1456, 2023 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36383259
6.
The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA).
Sci Rep
; 13(1): 17311, 2023 10 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37828349
7.
Genetic modifiers of upper limb function in Duchenne muscular dystrophy.
J Neurol
; 269(9): 4884-4894, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-35513612
8.
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Acta Neuropathol Commun
; 10(1): 54, 2022 04 15.
Artigo
Inglês
| MEDLINE | ID: mdl-35428369
9.
Evaluation of peripherin in biofluids of patients with motor neuron diseases.
Ann Clin Transl Neurol
; 8(8): 1750-1754, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34264016
10.
Genetic modifiers of respiratory function in Duchenne muscular dystrophy.
Ann Clin Transl Neurol
; 7(5): 786-798, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32343055
11.
Correction to: Italian version of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS): validation and longitudinal performance.
J Neurol
; 270(4): 2347, 2023 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-36811681