Detalhe da pesquisa
1.
Pathogenic role of delta 2 tubulin in bortezomib-induced peripheral neuropathy.
Proc Natl Acad Sci U S A
; 118(4)2021 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33468672
2.
Two cases of MT-ND5-related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder.
Mult Scler
; 29(7): 892-897, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37227101
3.
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
J Inherit Metab Dis
; 45(5): 996-1012, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35621276
4.
COVID-19 neuropathology at Columbia University Irving Medical Center/New York Presbyterian Hospital.
Brain
; 144(9): 2696-2708, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33856027
5.
Postnatal development of mice with combined genetic depletions of lamin A/C, emerin and lamina-associated polypeptide 1.
Hum Mol Genet
; 28(15): 2486-2500, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31009944
6.
Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice.
Hum Mol Genet
; 28(2): 209-219, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30260394
7.
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
J Neurol Neurosurg Psychiatry
; 92(11): 1186-1196, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34103343
8.
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Hum Mol Genet
; 27(19): 3305-3312, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29917077
9.
A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype.
Mol Genet Metab
; 131(4): 398-404, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33279411
10.
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
Acta Neuropathol
; 139(6): 1089-1104, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32236737
11.
Lamina-associated polypeptide 1 is dispensable for embryonic myogenesis but required for postnatal skeletal muscle growth.
Hum Mol Genet
; 26(1): 65-78, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27798115
12.
Fhl1 W122S causes loss of protein function and late-onset mild myopathy.
Hum Mol Genet
; 24(3): 714-26, 2015 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25274776
13.
Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish.
Muscle Nerve
; 51(5): 767-72, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25430424
14.
Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy.
Brain
; 137(Pt 5): 1337-49, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24727567
15.
Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene.
Muscle Nerve
; 50(2): 292-5, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24711008
16.
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
Brain
; 136(Pt 5): 1508-17, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23543484
17.
mTOR Inhibition Prolongs Survival and Has Beneficial Effects on Heart Function After Onset of Lamin A/C Gene Mutation Cardiomyopathy in Mice.
Circ Heart Fail
; 17(4): e011110, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38567527
18.
Psychobiological regulation of plasma and saliva GDF15 dynamics in health and mitochondrial diseases.
bioRxiv
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38659958
19.
Mitochondrial abnormalities in temporal lobe of autistic brain.
Neurobiol Dis
; 54: 349-61, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23333625
20.
Peripheral T-cell lymphoma emerging in a patient with aggressive polymyositis: molecular evidence for neoplastic transformation of an oligoclonal T-cell infiltrate.
Acta Neuropathol
; 126(4): 595-601, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23942639