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Ataxias with autosomal, X-chromosomal or maternal inheritance.
scientific article published on July 2009
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stated in
Europe PubMed Central
PubMed publication ID
19650351
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19650351%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
review article
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Europe PubMed Central
title
Ataxias with autosomal, X-chromosomal or maternal inheritance
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
19650351
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19650351%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
author name string
Josef Finsterer
series ordinal
1
1 reference
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Europe PubMed Central
PubMed publication ID
19650351
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19650351%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
publication date
1 July 2009
1 reference
stated in
Europe PubMed Central
PubMed publication ID
19650351
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19650351%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
published in
Canadian Journal of Neurological Sciences
1 reference
stated in
Europe PubMed Central
PubMed publication ID
19650351
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19650351%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
volume
36
1 reference
stated in
Europe PubMed Central
PubMed publication ID
19650351
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19650351%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
issue
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
19650351
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19650351%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
page(s)
409-428
1 reference
stated in
Europe PubMed Central
PubMed publication ID
19650351
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19650351%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
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Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life
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Unstable spinocerebellar ataxia type 10 (ATTCT*(AGAAT) repeats are associated with aberrant replication at the ATX10 locus and replication origin-dependent expansion at an ectopic site in human cells.
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Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.
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Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia
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Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia
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Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
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SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
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Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.
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Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6.
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Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa
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Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).
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Ataxia with isolated vitamin E deficiency: a treatable neurologic disorder resembling Friedreich's ataxia
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Friedreich's ataxia and scoliosis: the experience at two institutions
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Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients
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DNA triplexes and Friedreich ataxia
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Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.
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The chemical form of mitochondrial iron in Friedreich’s ataxia
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Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines
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Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up
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Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis.
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PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling.
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Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?
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Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder protein, is essential for survival of cerebellar neurons
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Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant
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Unpaired structures in SCA10 (ATTCT)n.(AGAAT)n repeats
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7 January 2021
based on heuristic
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Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10.
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation
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Crossref
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based on heuristic
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The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene
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7 January 2021
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Eyeblink conditioning in patients with hereditary ataxia: a one-year follow-up study.
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X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.
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based on heuristic
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A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.
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Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes
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Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype
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SCA8 mRNA expression suggests an antisense regulation of KLHL1 and correlates to SCA8 pathology.
1 reference
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7 January 2021
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7 January 2021
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Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17).
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7 January 2021
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inferred from DOI database lookup
Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3.
1 reference
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7 January 2021
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Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene
1 reference
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7 January 2021
based on heuristic
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Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats.
1 reference
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Crossref
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https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
inferred from DOI database lookup
Brain white matter tracts degeneration in Friedreich ataxia. An in vivo MRI study using tract-based spatial statistics and voxel-based morphometry.
1 reference
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Crossref
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https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
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Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency
1 reference
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Crossref
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https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
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Mitochondrial ataxias.
1 reference
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Crossref
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https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
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Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10
1 reference
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Crossref
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https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
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Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10
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based on heuristic
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Severe symptoms of 16q-ADCA coexisting with SCA8 repeat expansion
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https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
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The hereditary spinocerebellar ataxias in Japan
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https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
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Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1.
1 reference
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Crossref
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https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
inferred from DOI database lookup
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
inferred from DOI database lookup
The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission
1 reference
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Crossref
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https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
inferred from DOI database lookup
ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF
1 reference
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https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
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Clinical features and molecular genetics of autosomal recessive cerebellar ataxias
1 reference
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https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
inferred from DOI database lookup
A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
inferred from DOI database lookup
Spinocerebellar ataxia type 20.
1 reference
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Crossref
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https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
inferred from DOI database lookup
An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus
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Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
inferred from DOI database lookup
Brain MRI abnormalities in ataxia-telangiectasia.
1 reference
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Crossref
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https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
inferred from DOI database lookup
The dentate nucleus in Friedreich's ataxia: the role of iron-responsive proteins
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https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
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Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)
1 reference
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Crossref
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https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
inferred from DOI database lookup
Frataxin gene point mutations in Italian Friedreich ataxia patients
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
inferred from DOI database lookup
The MCK mouse heart model of Friedreich's ataxia: Alterations in iron-regulated proteins and cardiac hypertrophy are limited by iron chelation
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
inferred from DOI database lookup
A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia
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Crossref
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https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical, psychological, and genetic characteristics of spinocerebellar ataxia type 19 (SCA19).
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
inferred from DOI database lookup
Spinocerebellar ataxias types 1, 2 and 3: age adjusted clinical severity of disease at presentation correlates with size of CAG repeat lengths
1 reference
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Crossref
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https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families
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Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutant gammaPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
inferred from DOI database lookup
Depletion of mitochondrial DNA in leukocytes of patients with poly-Q diseases
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Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Altered expression of HSPA5, HSPA8 and PARK7 in spinocerebellar ataxia type 17 identified by 2-dimensional fluorescence difference in gel electrophoresis
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
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7 January 2021
based on heuristic
inferred from DOI database lookup
SCA3: neurological features, pathogenesis and animal models
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Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myocardial ischemia in the absence of epicardial coronary artery disease in Friedreich's ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
White matter hyperintense lesions in genetically proven spinocerebellar ataxia 8
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spinocerebellar ataxia 2 (SCA2).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Movement disorders in hereditary ataxias
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hypertrophic cardiomyopathy in Friedreich's ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular pathogenesis of spinocerebellar ataxia type 6.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Trinucleotide expansions in the SCA7 gene in a large family with spinocerebellar ataxia and craniocervical dystonia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
CTA/CTG expansions at the SCA 8 locus in multiple system atrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Premutations in the FMR1 gene are uncommon in men undergoing genetic testing for spinocerebellar ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Magnetic resonance imaging in spinocerebellar ataxias
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Muscle excitability abnormalities in Machado-Joseph disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic and molecular aspects of spinocerebellar ataxias
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Large CACNA1A deletion in a family with episodic ataxia type 2.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dominantly inherited ataxias: lessons learned from Machado-Joseph disease/spinocerebellar ataxia type 3.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spinocerebellar ataxia with mental retardation (SCA13).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cognitive and social cognitive functioning in spinocerebellar ataxia : a preliminary characterization.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Schizophrenia in a patient with spinocerebellar ataxia 2: coincidence of two disorders or a neurodegenerative disease presenting with psychosis?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The wide spectrum of spinocerebellar ataxias (SCAs)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sporadic ataxias in Japan--a population-based epidemiological study.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence of a common founder for SCA12 in the Indian population.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prevalence of inherited ataxias in the province of Padua, Italy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Friedreich ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cerebellar ataxia in the eastern and southern parts of Norway
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Investigation of recessive ataxia loci in patients with young age of onset
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spastic paraparesis as the onset manifestation of spinocerebellar ataxia type 7
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical and genetic analysis of spinocerebellar ataxia type 11
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Polyglutamine diseases: emerging concepts in pathogenesis and therapy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Impaired eye movements in presymptomatic spinocerebellar ataxia type 6.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Consistent affection of the central somatosensory system in spinocerebellar ataxia type 2 and type 3 and its significance for clinical symptoms and rehabilitative therapy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Involvement of the auditory brainstem system in spinocerebellar ataxia type 2 (SCA2), type 3 (SCA3) and type 7 (SCA7).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Targeted deletion of a single Sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Allele-specific RNA silencing of mutant ataxin-3 mediates neuroprotection in a rat model of Machado-Joseph disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A Japanese case of SCA14 with the Gly128Asp mutation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recent progress in spinocerebellar ataxia type-10 (SCA10).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spinocerebellar ataxia type 2 (SCA2) with white matter involvement
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Selective iron chelation in Friedreich ataxia: biologic and clinical implications
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spinocerebellar ataxia type 6 in Brazil
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cognitive impairment in spinocerebellar ataxia type 8.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Friedreich's ataxia: clinical pilot trial with recombinant human erythropoietin
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spinocerebellar ataxias caused by polyglutamine expansions: a review of therapeutic strategies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prefrontal hypoperfusion and cognitive dysfunction correlates in spinocerebellar ataxia type 6.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular pathogenesis of spinocerebellar ataxias.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular genetics of spinocerebellar ataxia type 8 (SCA8)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leigh and Leigh-like syndrome in children and adults
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Homozygosity enhances severity in spinocerebellar ataxia type 3
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The clinical diagnosis of autosomal dominant spinocerebellar ataxias
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hereditary dentatorubral-pallidoluysian atrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new dominantly inherited pure cerebellar ataxia, SCA 30.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Oculomotor abnormalities in myoclonic tremor: a comparison with spinocerebellar ataxia type 6.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Very-late-onset Friedreich ataxia with disturbing head tremor and without spinal atrophy--a case report
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pharmacological treatments of cerebellar ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Buspirone and serotonin in spinocerebellar ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Targeting the gene in Friedreich ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spinocerebellar ataxias: an update
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100007733
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1017/S0317167100007733
1 reference
stated in
Europe PubMed Central
PubMed publication ID
19650351
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19650351%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
PubMed publication ID
19650351
1 reference
stated in
Europe PubMed Central
PubMed publication ID
19650351
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19650351%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
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