Detalhe da pesquisa
1.
MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias.
Proc Natl Acad Sci U S A
; 115(52): E12407-E12416, 2018 12 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30530649
2.
Loss of cerebellar glutamate transporters EAAT4 and GLAST differentially affects the spontaneous firing pattern and survival of Purkinje cells.
Hum Mol Genet
; 27(15): 2614-2627, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29741614
3.
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Am J Hum Genet
; 100(5): 706-724, 2017 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28413018
4.
Posterior cerebellar Purkinje cells in an SCA5/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of ß-III spectrin and GLAST.
Hum Mol Genet
; 25(20): 4448-4461, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28173092
5.
Objective Assessment of Adherence to Inhalers by Patients with Chronic Obstructive Pulmonary Disease.
Am J Respir Crit Care Med
; 195(10): 1333-1343, 2017 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27409253
6.
Cerebellar ataxias: ß-III spectrin's interactions suggest common pathogenic pathways.
J Physiol
; 594(16): 4661-76, 2016 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26821241
7.
ß-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations.
Hum Mol Genet
; 23(14): 3875-82, 2014 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24603075
8.
De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Brain
; 138(Pt 7): 1817-32, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25981959
9.
Combining comparative proteomics and molecular genetics uncovers regulators of synaptic and axonal stability and degeneration in vivo.
PLoS Genet
; 8(8): e1002936, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22952455
10.
Recessive mutations in SPTBN2 implicate ß-III spectrin in both cognitive and motor development.
PLoS Genet
; 8(12): e1003074, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23236289
11.
Spinal cord neurone loss and foot placement changes in a rat knock-in model of amyotrophic lateral sclerosis Type 8.
Brain Commun
; 6(3): fcae184, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38846532
12.
ß-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis.
J Neurosci
; 31(46): 16581-90, 2011 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-22090485
13.
Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.
Hum Mol Genet
; 19(18): 3634-41, 2010 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20603325
14.
An unusual case of elderly-onset cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with multiple cerebrovascular risk factors.
J Stroke Cerebrovasc Dis
; 21(2): 143-5, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20851625
15.
Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.
J Neurosci
; 30(14): 4857-67, 2010 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-20371805
16.
Feasibility of a randomised controlled trial to evaluate home-based virtual reality therapy in children with cerebral palsy.
Disabil Rehabil
; 43(1): 85-97, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131641
17.
A Bi-fluorescence complementation system to detect associations between the Endoplasmic reticulum and mitochondria.
Sci Rep
; 7(1): 17467, 2017 12 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29234100
18.
Colonisation of Irish patients with chronic obstructive pulmonary disease by Streptococcus pneumoniae and analysis of the pneumococcal vaccine coverage: a non-interventional, observational, prospective cohort study.
BMJ Open
; 7(7): e013944, 2017 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28694340
19.
Genetic analysis of the cystatin C gene in familial and sporadic ALS patients.
Brain Res
; 1073-1074: 20-4, 2006 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-16443201
20.
Therapeutic developments in the treatment of amyotrophic lateral sclerosis.
Expert Opin Investig Drugs
; 11(10): 1343-64, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12387699