Detalhe da pesquisa
1.
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ann Neurol
; 94(6): 1126-1135, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37695206
2.
Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade.
Eur J Neurol
; 31(1): e16060, 2024 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37724986
3.
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy.
BMC Musculoskelet Disord
; 25(1): 35, 2024 Jan 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38183077
4.
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
Curr Issues Mol Biol
; 45(4): 2847-2860, 2023 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37185710
5.
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease.
J Neurol Neurosurg Psychiatry
; 93(12): 1253-1261, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36220341
6.
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.
Muscle Nerve
; 65(1): 96-104, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34687219
7.
Technology outcome measures in neuromuscular disorders: A systematic review.
Eur J Neurol
; 29(4): 1266-1278, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34962693
8.
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA
; 327(15): 1456-1468, 2022 04 19.
Artigo
Inglês
| MEDLINE | ID: mdl-35381069
9.
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Int J Mol Sci
; 23(23)2022 Nov 23.
Artigo
Inglês
| MEDLINE | ID: mdl-36498898
10.
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3.
J Neurol Neurosurg Psychiatry
; 91(11): 1166-1174, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32917822
11.
Practical approach to respiratory emergencies in neurological diseases.
Neurol Sci
; 41(3): 497-508, 2020 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-31792719
12.
Adapted physical activity and therapeutic exercise in late-onset Pompe disease (LOPD): a two-step rehabilitative approach.
Neurol Sci
; 41(4): 859-868, 2020 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-31811531
13.
Psychosocial impact of sport activity in neuromuscular disorders.
Neurol Sci
; 41(9): 2561-2567, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-32246354
14.
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol.
J Med Genet
; 56(5): 293-300, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30593463
15.
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Ann Intern Med
; 171(7): 458-463, 2019 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31476771
16.
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.
Int J Mol Sci
; 21(7)2020 Apr 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32290091
17.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Am J Hum Genet
; 99(3): 753-761, 2016 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27569547
18.
microRNAs as biomarkers in Pompe disease.
Genet Med
; 21(3): 591-600, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29997386
19.
Hereditary motor sensory neuropathy with proximal involvement (HMSN-P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease-like clinical picture.
Muscle Nerve
; 69(6): 730-732, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38533668
20.
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.
Hum Mutat
; 39(9): 1273-1283, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29935101