Detalhe da pesquisa
1.
Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome.
J Biol Chem
; 299(1): 102758, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36462665
2.
Misfolding, altered membrane distributions, and the unfolded protein response contribute to pathogenicity differences in Na,K-ATPase ATP1A3 mutations.
J Biol Chem
; 296: 100019, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144327
3.
A Multi-center Genome-wide Association Study of Cervical Dystonia.
Mov Disord
; 36(12): 2795-2801, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34320236
4.
Predictive modeling of spread in adult-onset isolated dystonia: Key properties and effect of tremor inclusion.
Eur J Neurol
; 28(12): 3999-4009, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34296504
5.
Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.
Neurobiol Dis
; 132: 104577, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31425744
6.
Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.
Mov Disord
; 34(10): 1528-1536, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31361359
7.
Aligning academic medicine within the healthcare system: the APS-SPR virtual chat series.
Pediatr Res
; 93(3): 503-510, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35149847
8.
A 500 U/2 mL dilution of abobotulinumtoxinA vs. placebo: randomized study in cervical dystonia.
Int J Neurosci
; 128(7): 619-626, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29343142
9.
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
Epilepsia
; 56(3): 422-30, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25656163
10.
Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings.
Acta Neuropathol
; 128(1): 81-98, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24803225
11.
Cognitive impairment in rapid-onset dystonia-parkinsonism.
Mov Disord
; 29(3): 344-50, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24436111
12.
A randomized, double-blind study of repeated incobotulinumtoxinA (Xeomin(®)) in cervical dystonia.
J Neural Transm (Vienna)
; 120(12): 1699-707, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23779062
13.
The vital role of natural history studies in rare disease: insights from X-linked dystonia parkinsonism.
Brain Commun
; 5(3): fcad125, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37265602
14.
Rapid-onset dystonia-parkinsonism is associated with reduced cerebral blood flow without gray matter changes.
Front Neurol
; 14: 1116723, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36779071
15.
ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.
Dev Med Child Neurol
; 54(11): 1065-7, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22924536
16.
Assessing the effectiveness of upper-limb spasticity management using a structured approach to goal-setting and outcome measurement: First cycle results from the ULIS-III Study.
J Rehabil Med
; 53(1): jrm00133, 2021 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33206198
17.
Longitudinal goal attainment with integrated upper limb spasticity management including repeat injections of botulinum toxin A: Findings from the prospective, observational Upper Limb International Spasticity (ULIS-III) cohort study.
J Rehabil Med
; 53(2): jrm00157, 2021 02 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33616192
18.
AbobotulinumtoxinA provides flexibility for the treatment of cervical dystonia with 500 U/1 mL and 500 U/2 mL dilutions.
Clin Park Relat Disord
; 5: 100115, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34888518
19.
Correction: Sustained functional benefits after a single set of injections with abobotulinumtoxinA using a 2-mL injection volume in adults with cervical dystonia: 12-week results from a randomized, double-blind, placebo-controlled phase 3b study.
PLoS One
; 16(4): e0250475, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33852647
20.
The Effect of Repeated abobotulinumtoxinA (Dysport®) Injections on Walking Velocity in Persons with Spastic Hemiparesis Caused by Stroke or Traumatic Brain Injury.
PM R
; 13(5): 488-495, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32741133