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Scale for the assessment and rating of ataxia: development of a new clinical scale

Neurology, 2006-06, Vol.66 (11), p.1717

2006

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Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing

Stem cell research, 2024-06, Vol.77, p.103378, Article 103378

2024

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Intensive coordinative training improves motor performance in degenerative cerebellar disease

Neurology, 2009-12, Vol.73 (22), p.1823

2009

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Generation of two SPAST knockout human induced pluripotent stem cell lines to create a model for Hereditary Spastic Paraplegia type 4

Stem cell research, 2022-04, Vol.60, p.102741-102741, Article 102741

2022

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The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity

Neurology, 2006-08, Vol.67 (3), p.430

2006

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Consensus Paper: Management of Degenerative Cerebellar Disorders

Cerebellum (London, England), 2014-04, Vol.13 (2), p.248-268

2014

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Responsiveness of different rating instruments in spinocerebellar ataxia patients

Neurology, 2010-02, Vol.74 (8), p.678

2010

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Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms

Neurology, 2008-09, Vol.71 (13), p.982

2008

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CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons

Disease models & mechanisms, 2020-10, Vol.13 (10)

2020

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Quantitative Assessment of Brain Stem and Cerebellar Atrophy in Spinocerebellar Ataxia Types 3 and 6: Impact on Clinical Status

American journal of neuroradiology : AJNR, 2011-05, Vol.32 (5), p.890-897

2011

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The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study

Neurology, 2011-09, Vol.77 (11), p.1035

2011

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SCA Functional Index: a useful compound performance measure for spinocerebellar ataxia

Neurology, 2008-08, Vol.71 (7), p.486

2008

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GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia

Clinical genetics, 2018-10, Vol.94 (3-4), p.356-361

2018

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High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

Neurology, 2006-12, Vol.67 (11), p.1926

2006

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Consensus Paper: Neurophysiological Assessments of Ataxias in Daily Practice

Cerebellum (London, England), 2018-10, Vol.17 (5), p.628-653

2018

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Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect

Neurology, 2011-09, Vol.77 (10), p.959

2011

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Cerebellar pathology in Friedreich's ataxia: atrophied dentate nuclei with normal iron content

NeuroImage clinical, 2014-01, Vol.6 (C), p.93-99

2014

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Ataxien und hereditäre spastische Spinalparalysen

Nervenarzt, 2017-07, Vol.88 (7), p.720-727

2017

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Prevalence of antigliadin antibodies in ataxia patients

Neurology, 2003-05, Vol.60 (10), p.1674

2003

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Prospective Analysis of Falls in Dominant Ataxias

European neurology, 2013-02, Vol.69 (1), p.53-57

2013

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Pathoanatomy of Cerebellar Degeneration in Spinocerebellar Ataxia Type 2 (SCA2) and Type 3 (SCA3)

Cerebellum (London, England), 2012-09, Vol.11 (3), p.749-760

2012

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Sleep disturbance in spinocerebellar ataxias: is the SCA3 mutation a cause of restless legs syndrome?

Neurology, 1998-12, Vol.51 (6), p.1603

1998

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CYP2U1 Mutations in Two Iranian Patients with Activity Induced Dystonia, Motor Regression and Spastic Paraplegia

European journal of paediatric neurology, 2016-09, Vol.20 (5), p.782-787

2016

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A cognitive brain-computer interface for patients with amyotrophic lateral sclerosis

Progress in brain research, 2016, Vol.228, p.221-239

2016

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EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias

European journal of neurology, 2009-07, Vol.16 (7), p.777-785

2009

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Scale for the assessment and rating of ataxia: development of a new clinical scale

Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing

Intensive coordinative training improves motor performance in degenerative cerebellar disease

Generation of two SPAST knockout human induced pluripotent stem cell lines to create a model for Hereditary Spastic Paraplegia type 4

The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity

Consensus Paper: Management of Degenerative Cerebellar Disorders

Responsiveness of different rating instruments in spinocerebellar ataxia patients

Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms

CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons

Quantitative Assessment of Brain Stem and Cerebellar Atrophy in Spinocerebellar Ataxia Types 3 and 6: Impact on Clinical Status

The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study

SCA Functional Index: a useful compound performance measure for spinocerebellar ataxia

GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

Consensus Paper: Neurophysiological Assessments of Ataxias in Daily Practice

Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect

Cerebellar pathology in Friedreich's ataxia: atrophied dentate nuclei with normal iron content

Ataxien und hereditäre spastische Spinalparalysen

Prevalence of antigliadin antibodies in ataxia patients

Prospective Analysis of Falls in Dominant Ataxias

Pathoanatomy of Cerebellar Degeneration in Spinocerebellar Ataxia Type 2 (SCA2) and Type 3 (SCA3)

Sleep disturbance in spinocerebellar ataxias: is the SCA3 mutation a cause of restless legs syndrome?

CYP2U1 Mutations in Two Iranian Patients with Activity Induced Dystonia, Motor Regression and Spastic Paraplegia

A cognitive brain-computer interface for patients with amyotrophic lateral sclerosis

EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias

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