Detalhe da pesquisa
1.
A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness.
Brain
; 145(10): e99-e102, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35915960
2.
SOD1 mutations in adult-onset distal spinal muscular atrophy.
Eur J Neurol
; 27(11): e75-e76, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32619288
3.
Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.
Brain
; 142(12): e66, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31612903
4.
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.
J Neurol
; 271(2): 986-994, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37907725
5.
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.
J Clin Med
; 12(9)2023 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37176748
6.
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.
Neuromuscul Disord
; 33(12): 983-987, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38016875
7.
Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome.
J Clin Med
; 12(6)2023 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36983435
8.
Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study.
Neuromuscul Disord
; 32(9): 728-735, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35907766
9.
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.
J Neurol
; 269(7): 3550-3562, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35286480
10.
A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation.
Muscle Nerve
; 54(4): 806-8, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27169979
11.
Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency.
Mol Genet Metab Rep
; 26: 100701, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33457207
12.
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.
J Clin Med
; 11(1)2021 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35011763
13.
Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy.
BMJ Open Respir Res
; 7(1)2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33246973
14.
Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum.
J Neurol
; 267(9): 2546-2555, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32367299
15.
Acute hypokinetic-rigid syndrome following SARS-CoV-2 infection.
Neurology
; 95(15): e2109-e2118, 2020 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32641525
16.
Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions.
Neuromuscul Disord
; 26(11): 749-753, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27618135
17.
Rare cause of paraparesis: bilateral obturator neuropathy after hysterosalpingectomy.
BMJ Case Rep
; 20152015 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26689250
18.
Brain-to-brain embolism: an unknown pathway to consider in ischemic strokes.
Rev Neurol
; 61(11): 509-10, 2015 Dec 01.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-26602806
19.
[Fluctuating ptosis as the presenting symptom of spontaneous liquoral hypotension syndrome]. / Ptosis fluctuante como presentación del síndrome de hipotensión licuoral espontánea.
Rev Neurol
; 58(9): 429-30, 2014 May 01.
Artigo
em Espanhol
| MEDLINE | ID: mdl-24777772