Detalhe da pesquisa
1.
A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies.
Nat Genet
; 4(1): 67-71, 1993 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-8513327
2.
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.
J Med Genet
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Artigo
em Inglês
| MEDLINE | ID: mdl-19586927
3.
Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.
J Neurol Neurosurg Psychiatry
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Artigo
em Inglês
| MEDLINE | ID: mdl-19332422
4.
Multiple mitochondrial DNA deletions in monozygotic twins with OPMD.
J Neurol Neurosurg Psychiatry
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Artigo
em Inglês
| MEDLINE | ID: mdl-17550990
5.
Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.
J Med Genet
; 44(12): 797-9, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18055910
6.
Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype.
Biochim Biophys Acta
; 1271(1): 135-40, 1995 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-7599199
7.
Multiple-system atrophy is genetically distinct from identified inherited causes of spinocerebellar degeneration.
Neurology
; 49(6): 1598-604, 1997 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-9409353
8.
Mitochondrial DNA polymorphisms in pathologically proven Parkinson's disease.
J Neurol
; 244(4): 262-5, 1997 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-9112596
9.
Phenotypic variation of a new P0 mutation in genetically identical twins.
J Neurol
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Artigo
em Inglês
| MEDLINE | ID: mdl-10463363
10.
Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study.
J Neurol Sci
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Artigo
em Inglês
| MEDLINE | ID: mdl-7561952
11.
Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy.
J Neurol Sci
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Artigo
em Inglês
| MEDLINE | ID: mdl-1315844
12.
Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy.
J Neurol Sci
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Artigo
em Inglês
| MEDLINE | ID: mdl-8133313
13.
Late onset Leber's optic neuropathy: a case confused with ischaemic optic neuropathy.
Br J Ophthalmol
; 76(9): 571-3, 1992 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-1420066
14.
Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication.
Braz J Med Biol Res
; 36(10): 1403-7, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14502374
15.
PGC-1ß mediates adaptive chemoresistance associated with mitochondrial DNA mutations.
Oncogene
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Artigo
em Inglês
| MEDLINE | ID: mdl-22777349
16.
Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansion.
J Neurol
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Artigo
em Inglês
| MEDLINE | ID: mdl-22297462
17.
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.
Neurology
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Artigo
em Inglês
| MEDLINE | ID: mdl-21715711
18.
The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study.
Neurology
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Artigo
em Inglês
| MEDLINE | ID: mdl-21832228
19.
A family with Friedreich ataxia and onion-bulb formations at sural nerve biopsy.
Ann N Y Acad Sci
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Artigo
em Inglês
| MEDLINE | ID: mdl-10586275
20.
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
Neurology
; 72(18): 1544-7, 2009 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-19118277