Detalhe da pesquisa
1.
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Brain
; 147(2): 414-426, 2024 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37703328
2.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Eur J Neurol
; : e16275, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38576261
3.
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Brain
; 146(10): 4200-4216, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37163662
4.
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
Eur J Neurol
; 29(8): 2398-2411, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35460302
5.
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
6.
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC.
Hum Mutat
; 41(9): 1600-1614, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32516863
7.
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
J Med Genet
; 56(10): 693-700, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31243061
8.
Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy.
Muscle Nerve
; 59(6): 711-713, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30895627
9.
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.
Am J Med Genet A
; 176(7): 1594-1601, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29704306
10.
Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.
Muscle Nerve
; 57(3): 380-387, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29053898
11.
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.
Brain
; 139(Pt 8): 2143-53, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259756
12.
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Brain
; 137(Pt 9): 2429-43, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24951643
13.
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
J Hum Genet
; 59(8): 454-64, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25007885
14.
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
J Neurol Neurosurg Psychiatry
; 85(12): 1359-65, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24695763
15.
IMPatienT: An Integrated Web Application to Digitize, Process and Explore Multimodal PATIENt daTa.
J Neuromuscul Dis
; 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38701156
16.
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.
J Neurol
; 271(2): 835-840, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37831128
17.
E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29-30 October 2021.
J Neuromuscul Dis
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38728200
18.
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
J Neurol
; 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38517523
19.
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.
Orphanet J Rare Dis
; 19(1): 66, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355534
20.
Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy.
Ann Clin Transl Neurol
; 10(5): 686-695, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37026610