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Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias

Cerebellum (London, England), 2014-04, Vol.13 (2), p.269-302

2014

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Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage

Human genetics, 2023-12, Vol.142 (12), p.1747-1754

2023

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44P Novel TTN mutation causing a congenital onset, slowly progressive myopathy with contractures in two siblings

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.242

2024

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Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1

Human molecular genetics, 2007-09, Vol.16 (17), p.2122-2134

2007

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A.04 The classification of autosomal recessive cerebellar ataxias: a consensus statement from the society for research on the cerebellum and ataxias task force

Canadian journal of neurological sciences, 2019-06, Vol.46 (s1), p.S9-S9

2019

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Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

The Journal of molecular diagnostics : JMD, 2020-09, Vol.22 (9), p.1205-1215

2020

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The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force

Cerebellum (London, England), 2019-12, Vol.18 (6), p.1098-1125

2019

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Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37

Human genetics, 2024-03, Vol.143 (3), p.211-232

2024

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Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37

Brain (London, England : 1878), 2018-07, Vol.141 (7), p.1981-1997

2018

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Molecular pathogenesis of spinocerebellar ataxias

Brain (London, England : 1878), 2006-06, Vol.129 (6), p.1357-1370

2006

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The Ever Expanding Spinocerebellar Ataxias. Editorial

Cerebellum (London, England), 2012-12, Vol.11 (4), p.821-827

Matilla-Dueñas, Antoni

2012

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POLR3A-related spastic ataxia: new mutations and a look into the phenotype

Journal of neurology, 2020-02, Vol.267 (2), p.324-330

2020

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New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32

JAMA neurology, 2013-06, Vol.70 (6), p.764

2013

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Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

Journal of translational medicine, 2019-08, Vol.17 (1), p.290-290, Article 290

2019

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Correction to: Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia

Neurogenetics, 2022, Vol.23 (1), p.79-79

2022

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Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene

Neurocase, 2019-09, Vol.25 (5), p.195-201

2019

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Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1

Cerebellum (London, England), 2008-06, Vol.7 (2), p.106-114

2008

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Ataxia and Action Myoclonus Related to Novel Mutations in ATP13A2 Gene

Movement disorders clinical practice (Hoboken, N.J.), 2021-08, Vol.8 (6), p.969-971

2021

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Rare Neurodegenerative Diseases: Clinical and Genetic Update

Advances in experimental medicine and biology, 2017, Vol.1031, p.443-496

2017

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Cellular and Molecular Pathways Triggering Neurodegeneration in the Spinocerebellar Ataxias

Cerebellum (London, England), 2010-06, Vol.9 (2), p.148-166

2010

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A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1

Human molecular genetics, 2013-09, Vol.22 (17), p.3425-3437

2013

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New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)

Brain communications, 2022, Vol.4 (2), p.fcac030-fcac030

2022

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Ataxia Rating Scales—Psychometric Profiles, Natural History and Their Application in Clinical Trials

Cerebellum (London, England), 2012-06, Vol.11 (2), p.488-504

2012

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FMR1 Premutation: Basic Mechanisms and Clinical Involvement

Cerebellum (London, England), 2016-10, Vol.15 (5), p.543-545

2016

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New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

Neurogenetics, 2016-10, Vol.17 (4), p.259-263

2016

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Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage

44P Novel TTN mutation causing a congenital onset, slowly progressive myopathy with contractures in two siblings

Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1

A.04 The classification of autosomal recessive cerebellar ataxias: a consensus statement from the society for research on the cerebellum and ataxias task force

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force

Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37

Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37

Molecular pathogenesis of spinocerebellar ataxias

The Ever Expanding Spinocerebellar Ataxias. Editorial

POLR3A-related spastic ataxia: new mutations and a look into the phenotype

New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

Correction to: Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia

Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene

Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1

Ataxia and Action Myoclonus Related to Novel Mutations in ATP13A2 Gene

Rare Neurodegenerative Diseases: Clinical and Genetic Update

Cellular and Molecular Pathways Triggering Neurodegeneration in the Spinocerebellar Ataxias

A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1

New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)

Ataxia Rating Scales—Psychometric Profiles, Natural History and Their Application in Clinical Trials

FMR1 Premutation: Basic Mechanisms and Clinical Involvement

New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

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