Detalhe da pesquisa
1.
Intrathecal Gene Therapy for Giant Axonal Neuropathy.
N Engl J Med
; 390(12): 1092-1104, 2024 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38507752
2.
Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters.
Mol Cell
; 69(3): 426-437.e7, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29395064
3.
Electrical impedance myography in healthy volunteers.
Muscle Nerve
; 69(3): 288-294, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37787098
4.
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.
Brain
; 144(10): 3239-3250, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114613
5.
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Hum Genet
; 140(12): 1709-1731, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652576
6.
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.
Am J Med Genet A
; 185(7): 2102-2107, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34089226
7.
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.
Muscle Nerve
; 63(4): 516-524, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33389762
8.
Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies.
BMC Neurol
; 21(1): 393, 2021 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34627174
9.
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.
Am J Med Genet A
; 182(5): 1278-1283, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32150337
10.
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Am J Med Genet A
; 182(10): 2272-2283, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32776697
11.
Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement.
Muscle Nerve
; 61(2): 143-155, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31724199
12.
Electrical impedance myography in individuals with collagen 6 and laminin α-2 congenital muscular dystrophy: a cross-sectional and 2-year analysis.
Muscle Nerve
; 57(1): 54-60, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28224647
13.
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Genet Med
; 19(2): 160-168, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27388694
14.
Peripheral nervous system manifestations of Chediak-Higashi disease.
Muscle Nerve
; 55(3): 359-365, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27429304
15.
Cortical hyperexcitability in patients with C9ORF72 mutations: Relationship to phenotype.
Muscle Nerve
; 54(2): 264-9, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26799151
16.
Electrical impedance myography discriminates congenital muscular dystrophy from controls.
Muscle Nerve
; 53(3): 402-6, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26179210
17.
Post-thoracotomy neuralgic amyotrophy in a patient with BAP1 tumor predisposition syndrome: Multimodality longitudinal follow-up.
Muscle Nerve
; 64(3): E7-E9, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34050543
18.
Pre-existing antiacetylcholine receptor autoantibodies and B cell lymphopaenia are associated with the development of myositis in patients with thymoma treated with avelumab, an immune checkpoint inhibitor targeting programmed death-ligand 1.
Ann Rheum Dis
; 78(1): 150-152, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30185415
19.
Utility of neuromuscular ultrasound for electromyographic needle localization within diseased muscle.
Muscle Nerve
; 60(6): E38-E40, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31498902
20.
MYH2-associated myopathy caused by a novel splice-site variant.
Neuromuscul Disord
; 33(3): 257-262, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36774715