Detalhe da pesquisa
1.
Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies.
Eur J Neurol
; 28(2): 660-669, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33051934
2.
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
J Med Genet
; 50(7): 463-72, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23644449
3.
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
Nat Genet
; 29(1): 17-8, 2001 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-11528383
4.
A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy.
Neuromuscul Disord
; 33(4): 309-314, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36881951
5.
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue.
Brain
; 132(Pt 1): 147-55, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19015158
6.
Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease).
Arch Pediatr
; 27(7S): 7S23-7S28, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33357593
7.
Expanding CEP290 mutational spectrum in ciliopathies.
Am J Med Genet A
; 149A(10): 2173-80, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19764032
8.
[The place of neuropathy in the early diagnosis of Cockayne syndrome: Report on two siblings]. / Place de la neuropathie dans le diagnostic précoce du syndrome de Cockayne : à propos de deux cas dans une fratrie.
Arch Pediatr
; 24(4): 353-359, 2017 Apr.
Artigo
em Francês
| MEDLINE | ID: mdl-28258862
9.
[Campylobacter jejuni and cytomegalovirus (CMV) infections in patients with the Guillain-Barre syndrome]. / Infections à Campylobacter jejuni et à cytomégalovirus (CMV) associées au syndrome de Guillain-Barré (SGB).
Arch Pediatr
; 13(12): 1561-5, 2006 Dec.
Artigo
em Francês
| MEDLINE | ID: mdl-17030119
10.
[Cerebellar ataxia of Norman-Jaeken. Presentation of seven Spanish patients]. / Ataxia cerebelosa de Norman-Jaeken. Presentación de siete pacientes españoles.
Rev Neurol
; 42(12): 723-8, 2006.
Artigo
em Espanhol
| MEDLINE | ID: mdl-16775797
11.
A penicillin- and metronidazole-resistant Clostridium botulinum strain responsible for an infant botulism case.
Clin Microbiol Infect
; 22(7): 644.e7-644.e12, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108966
12.
1st FSHD European Trial Network workshop:Working towards trial readiness across Europe.
Neuromuscul Disord
; 31(9): 907-918, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34404575
13.
Diaphragmatic dysfunction in Collagen VI myopathies.
Neuromuscul Disord
; 24(2): 125-33, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24314752
14.
Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patients.
Neuromuscul Disord
; 23(2): 139-48, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23219352
15.
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands.
Neuromuscul Disord
; 12(9): 889-96, 2002 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-12398845
16.
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE).
Neuromuscul Disord
; 13(7-8): 579-88, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12921796
17.
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.
Neuromuscul Disord
; 19(3): 182-8, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19179078
18.
New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations.
Neurology
; 71(23): 1896-901, 2008 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-19047562
19.
Axonotmesis of the sciatic nerve.
Diagn Interv Imaging
; 93(5): 398-400, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22542206
20.
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
Neurology
; 69(12): 1254-60, 2007 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-17634419