Detalhe da pesquisa
1.
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
Brain
; 146(9): 3800-3815, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36913258
2.
HINT1 neuropathy: Expanding the genotype and phenotype spectrum.
Clin Genet
; 102(5): 379-390, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35882622
3.
Neural Correlates of Motor Imagery of Gait in Amyotrophic Lateral Sclerosis.
J Magn Reson Imaging
; 53(1): 223-233, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32896088
4.
Deep phenotyping of an international series of patients with late-onset dysferlinopathy.
Eur J Neurol
; 28(6): 2092-2102, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715265
5.
Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging study.
Ann Neurol
; 86(2): 158-167, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31177556
6.
Absence of hyperexcitability of spinal motoneurons in patients with amyotrophic lateral sclerosis.
J Physiol
; 597(22): 5445-5467, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31523813
7.
Brain MRI shows white matter sparing in Kennedy's disease and slow-progressing lower motor neuron disease.
Hum Brain Mapp
; 40(10): 3102-3112, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30924230
8.
The changing landscape of motor neuron disease imaging: the transition from descriptive studies to precision clinical tools.
Curr Opin Neurol
; 31(4): 431-438, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750730
9.
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
Hum Mol Genet
; 23(8): 2220-31, 2014 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24256812
10.
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients.
J Neurol Neurosurg Psychiatry
; 87(8): 810-6, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26503015
11.
Validation of the Italian version of the SBMA Functional Rating Scale as outcome measure.
Neurol Sci
; 37(11): 1815-1821, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27444956
12.
Human neural stem cell transplantation in ALS: initial results from a phase I trial.
J Transl Med
; 13: 17, 2015 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-25889343
13.
Female gender doubles executive dysfunction risk in ALS: a case-control study in 165 patients.
J Neurol Neurosurg Psychiatry
; 86(5): 574-9, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25063584
14.
Clinical features and outcomes of the flail arm and flail leg and pure lower motor neuron MND variants: a multicentre Italian study.
J Neurol Neurosurg Psychiatry
; 91(9): 1001-1003, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32651246
15.
Androgen-dependent impairment of myogenesis in spinal and bulbar muscular atrophy.
Acta Neuropathol
; 126(1): 109-21, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23644820
16.
Multimodal spinal cord MRI offers accurate diagnostic classification in ALS.
J Neurol Neurosurg Psychiatry
; 89(11): 1220-1221, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29353238
17.
Gene therapy for primary myopathies: literature review and prospects.
Arch Pediatr
; 30(8S1): 8S18-8S23, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-38043978
18.
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
em Inglês
| MEDLINE | ID: mdl-37828349
19.
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Neurol Genet
; 9(4): e200087, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37470033
20.
Parkinson-like features in ALS with predominant upper motor neuron involvement.
Amyotroph Lateral Scler
; 13(1): 137-43, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21870999