Detalles de la búsqueda
1.
Toll-like receptors and IL-7 as potential biomarkers for immune-mediated necrotizing myopathies.
Eur J Immunol
; 53(11): e2250326, 2023 11.
Artículo
Inglés
| MEDLINE | ID: mdl-37562045
2.
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.
Artículo
Inglés
| MEDLINE | ID: mdl-37695206
3.
Efgartigimod in generalized myasthenia gravis: A real-life experience at a national reference center.
Eur J Neurol
; 31(4): e16189, 2024 Apr.
Artículo
Inglés
| MEDLINE | ID: mdl-38164996
4.
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
Brain
; 146(9): 3800-3815, 2023 09 01.
Artículo
Inglés
| MEDLINE | ID: mdl-36913258
5.
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.
Artículo
Inglés
| MEDLINE | ID: mdl-38183077
6.
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.
Artículo
Inglés
| MEDLINE | ID: mdl-37185710
7.
Opportunities for an early recognition of spinal muscular atrophy in primary care: a nationwide, population-based, study in Italy.
Fam Pract
; 40(2): 308-313, 2023 03 28.
Artículo
Inglés
| MEDLINE | ID: mdl-35950319
8.
Protein Aggregates and Aggrephagy in Myopathies.
Int J Mol Sci
; 24(9)2023 May 08.
Artículo
Inglés
| MEDLINE | ID: mdl-37176163
9.
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
Neurogenetics
; 23(1): 19-25, 2022 01.
Artículo
Inglés
| MEDLINE | ID: mdl-34608571
10.
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.
Artículo
Inglés
| MEDLINE | ID: mdl-36220341
11.
Spinal muscular atrophy: state of the art and new therapeutic strategies.
Neurol Sci
; 43(Suppl 2): 615-624, 2022 Dec.
Artículo
Inglés
| MEDLINE | ID: mdl-33871750
12.
Significance and clinical suggestions for the somatosensory evoked potentials increased in amplitude revealed by a large sample of neurological patients.
Neurol Sci
; 43(9): 5553-5562, 2022 Sep.
Artículo
Inglés
| MEDLINE | ID: mdl-35759065
13.
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.
Artículo
Inglés
| MEDLINE | ID: mdl-35381069
14.
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene.
Int J Mol Sci
; 23(17)2022 Aug 29.
Artículo
Inglés
| MEDLINE | ID: mdl-36077211
15.
Severe muscle damage with myofiber necrosis and macrophage infiltrates characterize anti-Mi2 positive dermatomyositis.
Rheumatology (Oxford)
; 60(6): 2916-2926, 2021 06 18.
Artículo
Inglés
| MEDLINE | ID: mdl-33249503
16.
Buprenorphine may be effective for treatment of paramyotonia congenita.
Muscle Nerve
; 64(1): 95-99, 2021 07.
Artículo
Inglés
| MEDLINE | ID: mdl-33835497
17.
Iatrogenic Kaposi's sarcoma in myasthenia gravis: learnings from two case reports.
Neurol Sci
; 42(5): 2081-2083, 2021 May.
Artículo
Inglés
| MEDLINE | ID: mdl-33404862
18.
Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins.
Int J Mol Sci
; 22(8)2021 Apr 20.
Artículo
Inglés
| MEDLINE | ID: mdl-33923914
19.
Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease.
Int J Mol Sci
; 22(6)2021 Mar 11.
Artículo
Inglés
| MEDLINE | ID: mdl-33799647
20.
Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients.
Int J Mol Sci
; 22(11)2021 May 26.
Artículo
Inglés
| MEDLINE | ID: mdl-34073630