Detalhe da pesquisa
1.
Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.
Eur J Neurol
; 30(10): 3265-3276, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37335503
2.
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Eur J Neurol
; 30(7): 2001-2011, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36943151
3.
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Genet Med
; 23(11): 2160-2170, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34234304
4.
Motor axonal neuropathy associated with GNE mutations.
Muscle Nerve
; 63(3): 396-401, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33094863
5.
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
Orphanet J Rare Dis
; 19(1): 24, 2024 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38268028
6.
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
J Neuromuscul Dis
; 8(4): 633-645, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749658
7.
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
J Neurol
; 267(1): 45-56, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31555977
8.
G303V tau mutation presenting with progressive supranuclear palsy-like features.
Mov Disord
; 27(4): 581-3, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22109955
9.
Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy.
Ann Clin Transl Neurol
; 7(12): 2538-2540, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33107701
10.
Myopathic camptocormia associated with myasthenia gravis.
Clin Neurol Neurosurg
; 115(8): 1488-9, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23265561