Detalhe da pesquisa
1.
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.
Hum Mol Genet
; 31(5): 748-760, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34559225
2.
Performance of the 2017 EULAR/ACR Classification Criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups: a scoping review.
Clin Exp Rheumatol
; 42(2): 403-412, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38436279
3.
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
4.
Sex steroid hormones and epilepsy: Effects of hormonal replacement therapy on seizure frequency of postmenopausal women with epilepsy-A systematic review.
Eur J Neurol
; 30(9): 2884-2898, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37326003
5.
Assessment of disability in idiopathic inflammatory myopathy: a call for linearity.
Rheumatology (Oxford)
; 61(8): 3420-3426, 2022 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34875011
6.
Ultrasound and MR muscle imaging in new onset idiopathic inflammatory myopathies at diagnosis and after treatment: a comparative pilot study.
Rheumatology (Oxford)
; 62(1): 300-309, 2022 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35536176
7.
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
J Neurol Neurosurg Psychiatry
; 2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896379
8.
Mapping of European activities on the integration of sex and gender factors in neurology and neuroscience.
Eur J Neurol
; 2022 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35673956
9.
European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases.
Eur J Neurol
; 29(6): 1571-1586, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35318776
10.
Clinical spectrum time course in non-Asian patients positive for anti-MDA5 antibodies.
Clin Exp Rheumatol
; 40(2): 274-283, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35200123
11.
Pathophysiological Mechanisms and Treatment of Dermatomyositis and Immune Mediated Necrotizing Myopathies: A Focused Review.
Int J Mol Sci
; 23(8)2022 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457124
12.
Intravenous immunoglobulins as first-line treatment in idiopathic inflammatory myopathies: a pilot study.
Rheumatology (Oxford)
; 60(4): 1784-1792, 2021 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33099648
13.
Evaluation of the 2020 European Academy of Neurology virtual congress: transition from a face-to-face to a virtual meeting.
Eur J Neurol
; 28(8): 2523-2532, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369806
14.
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Brain
; 143(9): 2696-2708, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32875335
15.
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.
Hum Mol Genet
; 27(23): 4036-4050, 2018 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30124830
16.
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Clin Genet
; 96(2): 126-133, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30919934
17.
Multidisciplinary management and care in rare neuromuscular disorders: A call for action.
Eur J Neurol
; 31(6): e16265, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38425128
18.
Advance care planning in progressive neurological diseases: lessons from ALS.
BMC Palliat Care
; 18(1): 50, 2019 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31196046
19.
Autoantibody testing in idiopathic inflammatory myopathies.
Pract Neurol
; 19(4): 284-294, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30826741
20.
The cognitive profile of behavioural variant FTD and its similarities with ALS: a systematic review and meta-analysis.
J Neurol Neurosurg Psychiatry
; 89(9): 995-1002, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29439163