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The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics

Human mutation, 2012-09, Vol.33 (9), p.1324-1332

2012

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High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

Nature genetics, 2006-05, Vol.38 (5), p.515-517

2006

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Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations

Journal of neurology, 2016-08, Vol.263 (8), p.1503-1510

2016

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Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

Cell reports (Cambridge), 2016-06, Vol.16 (1), p.79-91

2016

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Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

Movement disorders, 2018-07, Vol.33 (7), p.1119-1129

2018

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H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

Movement disorders, 2015-05, Vol.30 (6), p.828-833

2015

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Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model

PeerJ (San Francisco, CA), 2019-11, Vol.7, p.e7983-e7983, Article e7983

2019

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Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia

JAMA neurology, 2014-07, Vol.71 (7), p.831

2014

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ADCY5 mutations are another cause of benign hereditary chorea

Neurology, 2015-07, Vol.85 (1), p.80

2015

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Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

Annals of neurology, 2013-04, Vol.73 (4), p.546-553

2013

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Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

Brain (London, England : 1878), 2014-09, Vol.137 (Pt 9), p.2480-2492

2014

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Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

Neurology, 2014-08, Vol.83 (7), p.612

2014

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A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited: Figure 1

Brain (London, England : 1878), 2015-08, Vol.138 (8), p.e370-e370

2015

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Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

Journal of neurology, neurosurgery and psychiatry, 2014-05, Vol.85 (5), p.493-498

2014

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Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology

Neurology, 2014-11, Vol.83 (20), p.1873

2014

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Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

Journal of medical genetics, 2015-02, Vol.52 (2), p.85-94

2015

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The 4H syndrome due to RNF216 mutation

Parkinsonism & related disorders, 2015-09, Vol.21 (9), p.1122-1123

2015

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A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited

Brain (London, England : 1878), 2015-08, Vol.138 (Pt 8), p.e370-e370

2015

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Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene

Cerebellum (London, England), 2017-02, Vol.16 (1), p.262-267

2017

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Syndromic associations and RNF216 mutations

Parkinsonism & related disorders, 2015-11, Vol.21 (11), p.1389-1390

2015

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Mutations in the autoregulatory domain of [beta]-tubulin 4a cause hereditary dystonia

Annals of neurology, 2013-04, Vol.73 (4), p.546-553

2013

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Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene

Movement disorders clinical practice (Hoboken, N.J.), 2015-09, Vol.2 (3), p.271-273

2015

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Expanding the Phenotype and Genetic Defects Associated with the GOSR 2 Gene

Movement disorders clinical practice (Hoboken, N.J.), 2015-09, Vol.2 (3), p.271-273

2015

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The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model

Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia

ADCY5 mutations are another cause of benign hereditary chorea

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited: Figure 1

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology

Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

The 4H syndrome due to RNF216 mutation

A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene

Syndromic associations and RNF216 mutations

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Mutations in the autoregulatory domain of [beta]-tubulin 4a cause hereditary dystonia

Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene

Expanding the Phenotype and Genetic Defects Associated with the GOSR 2 Gene

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