Detalhe da pesquisa
1.
Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 95(5): 434-441, 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37918904
2.
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.
J Neurol Neurosurg Psychiatry
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38839277
3.
Overcoming therapeutic challenges: Successful management of a supposedly triple seronegative, refractory generalized myasthenia gravis patient with efgartigimod.
Eur J Neurol
; 31(7): e16306, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38716750
4.
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation.
Hum Mol Genet
; 29(2): 177-188, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31868880
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
em Inglês
| MEDLINE | ID: mdl-36220341
6.
Dipeptidyl peptidase 4/CD26 expression in human idiopathic inflammatory myopathies reveals skeletal muscle injury and vascular inflammation.
Clin Exp Rheumatol
; 40(2): 237-246, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34796850
7.
Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies.
Clin Neuropathol
; 40(6): 310-318, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34281632
8.
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
em Inglês
| MEDLINE | ID: mdl-32917822
9.
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.
Hum Mol Genet
; 24(2): 383-96, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25187576
10.
Muscle MRI findings in facioscapulohumeral muscular dystrophy.
Eur Radiol
; 26(3): 693-705, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26115655
11.
Vimentin regulates peripheral nerve myelination.
Development
; 139(7): 1359-67, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22357929
12.
Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study.
Neuromuscul Disord
; 33(12): 911-916, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37945485
13.
Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation.
J Neurol Neurosurg Psychiatry
; 87(7): 797-800, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26203156
14.
Animal Models as a Tool to Design Therapeutical Strategies for CMT-like Hereditary Neuropathies.
Brain Sci
; 11(9)2021 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573256
15.
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness.
Neurol Genet
; 7(5): e619, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34386585
16.
Rebalancing expression of HMGB1 redox isoforms to counteract muscular dystrophy.
Sci Transl Med
; 13(596)2021 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34078746
17.
Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination.
J Neurosci
; 29(27): 8858-70, 2009 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-19587293
18.
Foot pad skin biopsy in mouse models of hereditary neuropathy.
Glia
; 58(16): 2005-16, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20878767
19.
A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2.
J Peripher Nerv Syst
; 20(4): 419-21, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26768280
20.
LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models.
Front Mol Neurosci
; 13: 60, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32390798