Detalhe da pesquisa
1.
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
Brain
; 140(5): 1267-1279, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28335020
2.
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.
Am J Hum Genet
; 90(3): 540-9, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22387016
3.
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Hum Mutat
; 35(7): 779-90, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24692096
4.
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
Hum Mol Genet
; 21(20): 4521-9, 2012 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22833457
5.
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
J Med Genet
; 50(3): 151-9, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23315540
6.
[Investments of research and treatment of brain diseases will pay of time]. / Aivosairaudet ovat kalleimmat kansantautimme.
Duodecim
; 130(17): 1721-30, 2014.
Artigo
em Fi
| MEDLINE | ID: mdl-25272783
7.
Recessive twinkle mutations cause severe epileptic encephalopathy.
Brain
; 132(Pt 6): 1553-62, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19304794
8.
Low bone mass in patients with motor disability: prevalence and risk factors in 59 Finnish children.
Dev Med Child Neurol
; 52(3): 276-82, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19709135
9.
[Mitochondrial recessive ataxia syndrome (MIRAS) and valproate toxicity]. / Mitokondriaalinen resessiivinen ataksia- syndrooma ja valproaattihoidon toksisuus.
Duodecim
; 126(13): 1552-9, 2010.
Artigo
em Fi
| MEDLINE | ID: mdl-20695297
10.
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
Brain
; 131(Pt 11): 2841-50, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18819985
11.
Headache in children and adolescents after organ transplantation.
Pediatr Transplant
; 13(5): 565-70, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18466199
12.
Skeletal dysplasia presenting as a neuromuscular disorder - report of three children.
Neuromuscul Disord
; 17(3): 231-4, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17241785
13.
Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy.
Eur J Hum Genet
; 25(3): 366-370, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28000699
14.
Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy.
Neurol Genet
; 2(1): e46, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27066583
15.
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
Eur J Hum Genet
; 23(3): 325-30, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24986829
16.
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.
Neuromuscul Disord
; 25(11): 835-42, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26338452
17.
Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.
Neurology
; 85(4): 306-15, 2015 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-26115735
18.
Hereditary neuropathy with liability to pressure palsies (HNPP) in a toddler presenting with toe-walking, pain and stiffness.
Neuromuscul Disord
; 13(10): 827-9, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-14678806
19.
Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.
Neurology
; 83(8): 743-51, 2014 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25037205
20.
A multicenter study on Leigh syndrome: disease course and predictors of survival.
Orphanet J Rare Dis
; 9: 52, 2014 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24731534