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
em Inglês
| MEDLINE | ID: mdl-37695206
2.
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.
Brain
; 146(3): 806-822, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36445400
3.
Frequency, entity and determinants of fatigue in Charcot-Marie-Tooth disease.
Eur J Neurol
; 30(3): 710-718, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36458502
4.
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Eur J Neurol
; 30(2): 511-526, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36260368
5.
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry.
Eur J Neurol
; 30(8): 2461-2470, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37170966
6.
Alteration of the late endocytic pathway in Charcot-Marie-Tooth type 2B disease.
Cell Mol Life Sci
; 78(1): 351-372, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32280996
7.
Loss of function MPZ mutation causes milder CMT1B neuropathy.
J Peripher Nerv Syst
; 26(2): 177-183, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33960567
8.
Prostaglandin D2 synthase modulates macrophage activity and accumulation in injured peripheral nerves.
Glia
; 68(1): 95-110, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31479164
9.
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Ann Neurol
; 86(1): 55-67, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31070812
10.
Rimeporide as a ï¬rst- in-class NHE-1 inhibitor: Results of a phase Ib trial in young patients with Duchenne Muscular Dystrophy.
Pharmacol Res
; 159: 104999, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32535224
11.
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Ann Intern Med
; 171(7): 458-463, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31476771
12.
Expanding the spectrum of genes responsible for hereditary motor neuropathies.
J Neurol Neurosurg Psychiatry
; 90(10): 1171-1179, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31167812
13.
Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold.
PLoS Biol
; 14(4): e1002440, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27070899
14.
Increased expression of Myosin binding protein H in the skeletal muscle of amyotrophic lateral sclerosis patients.
Biochim Biophys Acta
; 1842(1): 99-106, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24184715
15.
Brain connectivity abnormalities extend beyond the sensorimotor network in peripheral neuropathy.
Hum Brain Mapp
; 35(2): 513-26, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23097273
16.
Expanding the central nervous system disease spectrum associated with FLNC mutation.
Muscle Nerve
; 59(5): E33-E37, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30734317
17.
Autocrine and immune cell-derived BDNF in human skeletal muscle: implications for myogenesis and tissue regeneration.
J Pathol
; 231(2): 190-8, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23775641
18.
Psychosocial resources and psychopathology among persons with neuromuscular disorders during the COVID-19 pandemic.
BMC Psychol
; 12(1): 243, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38685111
19.
Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers.
Biochim Biophys Acta
; 1822(6): 970-9, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22326558
20.
Nerve pathology is prevented by linker proteins in mouse models for LAMA2-related muscular dystrophy.
PNAS Nexus
; 2(4): pgad083, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37038437