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.
Leishmania donovani Induces Multiple Dynamic Responses in the Metabolome Associated with Amastigote Differentiation and Maturation Inside the Human Macrophage.
J Proteome Res
; 22(7): 2256-2270, 2023 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37339249
3.
Multiplatform Metabolomics Characterization Reveals Novel Metabolites and Phospholipid Compositional Rules of Haemophilus influenzae Rd KW20.
Int J Mol Sci
; 24(13)2023 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37446331
4.
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
5.
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
6.
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
7.
Comprehensive Examination of the Mouse Lung Metabolome Following Mycobacterium tuberculosis Infection Using a Multiplatform Mass Spectrometry Approach.
J Proteome Res
; 19(5): 2053-2070, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32285670
8.
Epilepsy in Duchenne and Becker muscular dystrophies.
Ann Clin Transl Neurol
; 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38693632
9.
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.
Lancet Reg Health Eur
; 37: 100817, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38169987
10.
New treatments in spinal muscular atrophy.
Arch Dis Child
; 108(7): 511-517, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36316089
11.
Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease.
Neuromuscul Disord
; 33(11): 866-872, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37919205
12.
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Neurology
; 101(15): e1495-e1508, 2023 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37643885
13.
Growth hormone remodels the 3D-structure of the mitochondria of inflammatory macrophages and promotes metabolic reprogramming.
Front Immunol
; 14: 1200259, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37475858
14.
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.
J Neuromuscul Dis
; 10(4): 541-554, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154182
15.
Low and high resolution gas chromatography-mass spectrometry for untargeted metabolomics: A tutorial.
Anal Chim Acta
; 1210: 339043, 2022 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35595356
16.
Genomics, Transcriptomics, and Metabolomics Reveal That Minimal Modifications in the Host Are Crucial for the Compensatory Evolution of ColE1-Like Plasmids.
mSphere
; 7(6): e0018422, 2022 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36416553
17.
Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis.
Brain Commun
; 4(6): fcac292, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36751502
18.
Integration of Genomic and Transcriptomic Data to Elucidate Molecular Processes in Babesia divergens.
Methods Mol Biol
; 2369: 199-215, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34313991
19.
Genetic neuropathies presenting with CIDP-like features in childhood.
Neuromuscul Disord
; 31(2): 113-122, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33386210
20.
Integration of Functional Genomic, Transcriptomic, and Metabolomic Data to Identify Key Features in Genomic Expression, Metabolites, and Metabolic Pathways of Babesia divergens.
Methods Mol Biol
; 2369: 217-249, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34313992