(Q36366712)

13 August 2017

title

Adult onset spinocerebellar ataxia in a Canadian movement disorders clinic (English)

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13 August 2017

main subject

spinocerebellar ataxia

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1 reference

Jillian S Parboosingh

4

object named as

Jillian Parboosingh

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13 August 2017

Scott Kraft

1

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13 August 2017

Sarah Furtado

2

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13 August 2017

Ranjit Ranawaya

3

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13 August 2017

Stacey Bleoo

5

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13 August 2017

Karen McElligott

6

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13 August 2017

Peter Bridge

7

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13 August 2017

Sian Spacey

8

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13 August 2017

Shyamal Das

9

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13 August 2017

Oksana Suchowersky

10

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13 August 2017

publication date

1 November 2005

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Canadian Journal of Neurological Sciences

13 August 2017

published in

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13 August 2017

volume

32

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13 August 2017

issue

4

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13 August 2017

page(s)

450-458

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The aetiology of sporadic adult-onset ataxia

13 August 2017

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Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds

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Clinical and genetic abnormalities in patients with Friedreich's ataxia

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Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

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Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia

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Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

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A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.

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Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

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Late onset recessive ataxia with Friedreich's disease phenotype

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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

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7 January 2021

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

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'Pseudo-dominant' inheritance in Friedreich's ataxia

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7 January 2021

Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus.

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Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia

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7 January 2021

Autosomal-dominant dentatorubropallidoluysian atrophy in the United Kingdom

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7 January 2021

Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions.

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7 January 2021

Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.

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7 January 2021

A family with pseudodominant Friedreich's ataxia showing marked variation of phenotype between affected siblings

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7 January 2021

Differential stability of the (GAA) n tract in the Friedreich ataxia (STM7) gene

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7 January 2021

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

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7 January 2021

Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation

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7 January 2021

Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions

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7 January 2021

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia

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7 January 2021

A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.

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7 January 2021

Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: Confirmation of 14q CAG expansion

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7 January 2021

CAG repeat expansions in patients with sporadic cerebellar ataxia

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7 January 2021

SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings

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7 January 2021

Do CTG expansions at the SCA8 locus cause ataxia?

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

An expanded CAG repeat sequence in spinocerebellar ataxia type 7

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7 January 2021

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

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7 January 2021

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

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7 January 2021

The gene for Machado-Joseph disease maps to human chromosome 14q

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7 January 2021

A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus.

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7 January 2021

Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers

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7 January 2021

A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.

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7 January 2021

Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia

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7 January 2021

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7 January 2021

Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?

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7 January 2021

Clinical and genetic analysis of hereditary and sporadic ataxia in central Italy.

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7 January 2021

Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese

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7 January 2021

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

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7 January 2021

A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

Prevalence of triplet repeat expansion in ataxia patients from Hokkaido, the northernmost island of Japan

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7 January 2021

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan.

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes

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7 January 2021

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group

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7 January 2021

Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome.

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7 January 2021

Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba

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7 January 2021

Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients

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7 January 2021

A new autosomal dominant pure cerebellar ataxia.

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7 January 2021

Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy

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7 January 2021

Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing

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7 January 2021

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

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7 January 2021

Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation

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7 January 2021

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

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7 January 2021

Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia.

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7 January 2021

Clinical features and genetic analysis of a new form of spinocerebellar ataxia

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia

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7 January 2021

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene

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7 January 2021

The fragile X premutation presenting as essential tremor.

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7 January 2021

Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.

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7 January 2021

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

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7 January 2021

Genetic background of apparently idiopathic sporadic cerebellar ataxia

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts

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https://api.crossref.org/works/10.1017%2FS0317167100004431

7 January 2021

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Identifiers

DOI

0 references

1 reference