Detalhe da pesquisa
1.
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
Brain
; 146(10): 4233-4246, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37186601
2.
Successful heart transplant in a child with congenital core myopathy and delayed-onset restrictive cardiomyopathy due to recessive mutations in the titin (TTN) gene.
Pediatr Transplant
; 27(6): e14561, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37345726
3.
Oral Dantrolene for Myopathic Symptoms in Malignant Hyperthermia-Susceptible Patients: A 25-Year Retrospective Cohort Study of Adverse Effects and Tolerability.
Anesth Analg
; 136(3): 569-577, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36201369
4.
Muscle cramps and contractures: causes and treatment.
Pract Neurol
; 23(1): 23-34, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36522175
5.
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.
Am J Med Genet A
; 188(9): 2783-2789, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616428
6.
Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation Sequencing.
Anesthesiology
; 136(6): 940-953, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35285867
7.
European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders.
Eur J Neurol
; 29(12): 3486-3507, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35971866
8.
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Brain
; 144(8): 2427-2442, 2021 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33792664
9.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Brain
; 144(2): 584-600, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33559681
10.
Mapping the current evidence on the anesthetic management of adult patients with neuromuscular disorders-a scoping review.
Can J Anaesth
; 69(6): 756-773, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35322378
11.
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Clin Genet
; 100(6): 692-702, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34463354
12.
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol
; 141(3): 431-453, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33449170
13.
Transcriptional Regulation of the Glutamate/GABA/Glutamine Cycle in Adult Glia Controls Motor Activity and Seizures in Drosophila.
J Neurosci
; 39(27): 5269-5283, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31064860
14.
RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature.
J Inherit Metab Dis
; 43(5): 1002-1013, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32187699
15.
Anaesthesia and neuromuscular disorders: what a neurologist needs to know.
Pract Neurol
; 2020 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33109742
16.
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
Hum Mutat
; 40(7): 962-974, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30932294
17.
Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.
Semin Cell Dev Biol
; 64: 201-212, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27427513
18.
Current and future therapeutic approaches to the congenital myopathies.
Semin Cell Dev Biol
; 64: 191-200, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27515125
19.
Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.
Hum Mol Genet
; 26(2): 320-332, 2017 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007904
20.
"RYR1 and the cerebellum": scientific commentary on "Defective Cerebellar Ryanodine Receptor Type 1 and Endoplasmic Reticulum Calcium 'Leak' in Tremor Pathophysiology".
Acta Neuropathol
; 147(1): 33, 2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38326582