Detalhe da pesquisa
1.
Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy.
Acta Neurol Scand
; 139(2): 135-142, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30192380
2.
Inherited Ataxia and Intrathecal Baclofen for the Treatment of Spasticity and Painful Spasms.
Stereotact Funct Neurosurg
; 97(1): 18-23, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30870851
3.
LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course.
Ann Neurol
; 78(3): 412-25, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26053668
4.
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.
Hum Mol Genet
; 21(10): 2205-10, 2012 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22328086
5.
Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing.
Hum Mutat
; 34(4): 572-7, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23348830
6.
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.
Hum Mutat
; 34(8): 1160-71, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23649844
7.
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.
Brain
; 135(Pt 6): 1682-94, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22577218
8.
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease.
J Anesth
; 27(1): 128-31, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22976939
9.
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms.
Neurogenetics
; 12(1): 65-72, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21225301
10.
Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers.
Muscle Nerve
; 41(6): 751-7, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20229577
11.
Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.
Brain
; 137(Pt 4): e270, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24231549
12.
Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.
Brain
; 132(Pt 8): 2170-9, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19567699
13.
SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
Am J Med Genet B Neuropsychiatr Genet
; 150B(7): 984-92, 2009 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-19194956
14.
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3.
Eur J Hum Genet
; 16(3): 367-73, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18197198
15.
POLG1 mutations associated with progressive encephalopathy in childhood.
J Neuropathol Exp Neurol
; 65(8): 758-68, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16896309
16.
Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations.
Eur J Hum Genet
; 13(4): 463-9, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15702133
17.
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
Lancet
; 364(9437): 875-82, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15351195
18.
Recurrence of Susac Syndrome following 23 Years of Remission.
Case Rep Neurol
; 6(2): 171-5, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24987361
19.
Does intrathecal baclofen have a place in the treatment of painful spasms in friedreich ataxia?
Case Rep Neurol
; 5(3): 201-3, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24348400
20.
A novel de novo exon 21 DNMT1 mutation causes cerebellar ataxia, deafness, and narcolepsy in a Brazilian patient.
Sleep
; 36(8): 1257-9, 1259A, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23904686