Detalhe da pesquisa
1.
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.
Nature
; 477(7363): 211-5, 2011 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-21857683
2.
Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutant UBQLN2.
Proc Natl Acad Sci U S A
; 111(40): 14524-9, 2014 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25246588
3.
Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.
Neurogenetics
; 16(1): 1-9, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25193783
4.
Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.
J Biol Chem
; 286(19): 17281-91, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21454511
5.
UBQLN2/P62 cellular recycling pathways in amyotrophic lateral sclerosis and frontotemporal dementia.
Muscle Nerve
; 45(2): 157-62, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22246868
6.
FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis.
Ann Neurol
; 67(6): 739-48, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20517935
7.
An unusual case of familial ALS and cerebellar ataxia.
Amyotroph Lateral Scler
; 11(6): 568-70, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20540686
8.
SIGMAR1 mutations, genetic heterogeneity at the chromosome 9p locus, and the expanding etiological diversity of amyotrophic lateral sclerosis.
Ann Neurol
; 70(6): 867-70, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22190360
9.
Identification of TMEM230 mutations in familial Parkinson's disease.
Nat Genet
; 48(7): 733-9, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27270108
10.
Protein recycling pathways in neurodegenerative diseases.
Alzheimers Res Ther
; 6(2): 13, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25031631
11.
Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia.
J Mol Neurosci
; 45(3): 663-75, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21901496
12.
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
Arch Neurol
; 68(11): 1440-6, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22084127
13.
Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations.
Arch Neurol
; 68(8): 1057-61, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21825243
14.
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
Nat Genet
; 42(2): 165-9, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20037587
15.
What is repeated in ALS and FTLD.
Lancet Neurol
; 11(1): 25-7, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22154784
16.
Signaling mechanisms mediated by G-protein coupled receptors in human platelets.
Acta Pharmacol Sin
; 25(7): 887-92, 2004 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15210061