| 1 |
34700111 | DRPLA: An unusual disease or an underestimated cause of ataxia in Brazil? | 2021 Nov |
2 |
| 2 |
28856097 | Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA). | 2017 |
2 |
| 3 |
25842919 | The first identified Central-Eastern European patient with genetically confirmed dentatorubral-pallidoluysian atrophy. | 2015 Jan 30 |
1 |
| 4 |
24981774 | Allele-selective inhibition of mutant atrophin-1 expression by duplex and single-stranded RNAs. | 2014 Jul 22 |
6 |
| 5 |
19469833 | Cutaneous accumulation of abnormal polyglutamine proteins of patients with dentatorubral-pallidoluysian atrophy. | 2009 Nov |
2 |
| 6 |
12464607 | Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity. | 2003 Apr 11 |
1 |
| 7 |
12956864 | Cervical dystonia in dentatorubral-pallidoluysian atrophy. | 2003 Oct |
1 |
| 8 |
12371928 | Head tremor in dentatorubral-pallidoluysian atrophy. | 2002 Nov |
1 |
| 9 |
11781699 | Polymorphism of trinucleotide repeats in loci DM, DRPLA and SCA1 in East European populations. | 2001 Nov |
1 |
| 10 |
10746559 | Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation. | 2000 Feb |
1 |
| 11 |
10809084 | Distribution of CAG repeat size in the dentatorubral and pallidoluysian atrophy (DRPLA) gene in a normal population in Taiwan. | 2000 Apr |
1 |
| 12 |
11342385 | The status of SCA1, MJD/SCA3, FRDA, DRPLA and MD triplet containing genes in patients with Huntington disease and healthy controls. | 2000 Dec |
1 |
| 13 |
10084125 | Detection of trinucleotide expansion in neurodegenerative disease by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. | 1999 Mar |
1 |
| 14 |
10209453 | Corneal endothelial changes and trinucleotide repeat expansion of DRPLA gene. | 1999 Jan |
1 |
| 15 |
10337944 | Genetic analysis of a dentatorubral-pallidoluysian atrophy family: relevance to apparent sporadic cases. | 1999 Mar |
1 |
| 16 |
10514531 | [CAG trinucleotide mutation detection in patients with hereditary spinocerebellar ataxia]. | 1999 Oct |
1 |
| 17 |
9482263 | Somatic mosaicism of the expanded CAG trinucleotide repeat in mRNAs for the responsible gene of Machado-Joseph disease (MJD), dentatorubral-pallidoluysian atrophy (DRPLA), and spinal and bulbar muscular atrophy (SBMA). | 1998 Jan |
1 |
| 18 |
9844416 | [Genetic analysis including predictive DNA testing in a Japanese family with dentatorubral-pallidoluysian atrophy]. | 1998 Nov |
2 |
| 19 |
9050922 | Southern analysis for detection of CAG repeat expansions associated with dentatorubral pallidoluysian atrophy. | 1997 Mar |
1 |
| 20 |
9058092 | Molecular genetics of triplet repeats: unstable expansion of triplet repeats as a new mechanism for neurodegenerative diseases. | 1997 Jan |
1 |
| 21 |
9143016 | Expression of dentatorubral-pallidoluysian atrophy (DRPLA) proteins in patients. | 1997 Mar 28 |
1 |
| 22 |
8644735 | Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis. | 1996 Apr |
2 |
| 23 |
8757047 | Dentatorubral-pallidoluysian atrophy proteins in lymphoblastoid cells. | 1996 Aug |
1 |
| 24 |
8891279 | Characterization of dentatorubral-pallidoluysian atrophy proteins using two-dimensional electrophoretic analysis. | 1996 Sep 2 |
1 |
| 25 |
8925256 | Analysis of DRPLA trinucleotide repeats in schizophrenia. | 1996 Spring |
1 |
| 26 |
8926495 | Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy. | 1996 Jan |
1 |
| 27 |
8965642 | DRPLA gene (atrophin-1) sequence and mRNA expression in human brain. | 1996 Mar |
1 |
| 28 |
7620120 | Dentatorubral-pallidoluysian atrophy (DRPLA): close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation. | 1995 Feb |
1 |
| 29 |
7824105 | DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. | 1995 Jan |
1 |
| 30 |
8745629 | [Does the ataxo-choreic form of DRPLA exist in Europe? Search of mutation in 120 families]. | 1995 Nov |
2 |
| 31 |
9173996 | Cloning and expression of the rat atrophin-I (DRPLA disease gene) homologue. | 1995 Jun |
1 |
| 32 |
7885531 | High-intensity proton and T2-weighted MRI signals in the globus pallidus in juvenile-type of dentatorubral and pallidoluysian atrophy. | 1994 Oct |
3 |
| 33 |
7951323 | The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. | 1994 Aug |
1 |
| 34 |
7998766 | Trinucleotide repeat expansion in neurological disease. | 1994 Dec |
1 |
| 35 |
8136826 | Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. | 1994 Jan |
2 |
| 36 |
20301664 | DRPLA | 1993 |
2 |