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Developmental Medicine & Child Neurology, ISSN 0012-1622, 04/2017, Volume 59, Issue 4, pp. 350 - 351
This commentary is on the original article by Brandsma et al. on pages 427–432 of this issue. 
RATING-SCALES | PEDIATRICS | CLINICAL NEUROLOGY | Ataxia | Comorbidity | Cerebellar Ataxia | Humans | Spinocerebellar Ataxias
Journal Article
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2018, Volume 1049, pp. 321 - 348
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant multiple neurological systems degenerative disorder caused by a CAG... 
Study design | Clinical trials | Machado-Joseph disease | Treatment | SCA3 | MEDICINE, RESEARCH & EXPERIMENTAL | SURROGATE END-POINTS | SPINOCEREBELLAR ATAXIA TYPE-3 | SCA3/MJD PATIENTS | NATURAL-HISTORY | NEUROSCIENCES | CLINICAL NEUROLOGY | CONTROLLED PILOT TRIAL | CEREBELLAR-ATAXIA | CROSSOVER TRIAL | GENETICS & HEREDITY | DOUBLE-BLIND | RATING-SCALES | PARKINSONIAN PHENOTYPE
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 02/2019, Volume 29, Issue 2, pp. 138 - 141
Charcot Marie Tooth disease type 4C (CMT4C) is considered the most frequent autosomal recessive form of CMT worldwide, being described as an early-onset... 
CMT | Charcot–Marie–Tooth disease type 4C | Dropped head syndrome | Proximal muscle weakness | CMT4C | Charcot-Marie-Tooth disease type 4C | PROTEIN | SH3TC2 | MYELINATION | MUTATIONS | NEUROSCIENCES | CLINICAL NEUROLOGY | Medical genetics
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2016, Volume 15, Issue 8, pp. 788 - 789
  By contrast, if a disease-modifying drug slows disease progression by 50% (expected change 0·5 in SARA score), then the number of patients would need to be... 
Neurology | DOUBLE-BLIND | CLINICAL NEUROLOGY | CLINICAL-TRIALS | Cerebellar Ataxia | Riluzole | Humans | Short term | Ataxia
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 12/2017, Volume 383, pp. 18 - 25
Molecular diagnosis of hereditary spastic paraplegias (HSP) is a difficult task due to great clinical and genetic heterogeneity. We aimed to characterize... 
Hereditary spastic paraplegia | Cerebrotendinous xanthomatosis | Next-generation sequencing | Diagnosis | SPG | HSP | VARIANTS | PHENOTYPES | SPG5 | NEUROSCIENCES | CLINICAL NEUROLOGY | GENE | DISEASE | Hereditary spastic paraplegia HSP | MUTATIONS | ONSET
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2016, Volume 15, Issue 8, pp. 788 - 788
  Because of the inclusion of heterogeneous patients in Romano and colleagues' trial,1 a high variation in SARA scores (2·0-29·5) would induce an increase in... 
Neurology | CHILDREN | CLINICAL NEUROLOGY | Cerebellar Ataxia | Riluzole | Humans | Ataxia
Journal Article
Movement Disorders, ISSN 0885-3185, 04/2014, Volume 29, Issue 4, pp. 568 - 573
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 0004-282X, 12/2019, Volume 77, Issue 12, pp. 843 - 847
ABSTRACT Hereditary spastic paraplegias (HSP) are a group of genetic diseases characterized by lower limb spasticity with or without additional neurological... 
Journal Article
The Cerebellum, ISSN 1473-4222, 6/2012, Volume 11, Issue 2, pp. 488 - 504
Journal Article
FRONTIERS IN NEUROLOGY, ISSN 1664-2295, 05/2019, Volume 10, p. 508
Background: Little is known about the cognitive profile of Hereditary Spastic Paraplegias (HSP), where most scientific attention has been given to motor... 
FREQUENT | memory | DEMENTIA | HSP | VALIDATION | SPG | ATAXIA | NEUROSCIENCES | CLINICAL NEUROLOGY | IMPAIRMENT | hereditary spastic paraplegia | NONMOTOR SYMPTOMS | MUTATIONS | SPECTRUM | SPG11 | cognitive profile | executive function | Analysis | Cognition | Executive function (Psychology)
Journal Article
GENETICS AND MOLECULAR BIOLOGY, ISSN 1415-4757, 2019, Volume 42, Issue 1, pp. 238 - 251
Machado-Joseph disease (SCA3/MJD) is the most common spinocerebellar ataxia worldwide, and particularly so in Southern Brazil. Due to an expanded polyglutamine... 
CLINICAL-TRIAL | spinocerebellar ataxia type 3 | BIOCHEMISTRY & MOLECULAR BIOLOGY | SPINOCEREBELLAR ATAXIA TYPE-3 | INVOLVEMENT | PHASE-2 | NATURAL-HISTORY | Machado-Joseph disease | EXCITABILITY | GENETICS & HEREDITY | Biomarkers | DOUBLE-BLIND | PERIPHERAL NEUROPATHY | CENTRAL MOTOR CONDUCTION | neurophysiology | PROGRESSION
Journal Article
Genetics and Molecular Biology, ISSN 1415-4757, 01/2019, Volume 42, p. 238
Machado-Joseph disease (SCA3/MJD) is the most common spinocerebellar ataxia worldwide, and particularly so in Southern Brazil. Due to an expanded polyglutamine... 
Medical research | Polyglutamine | Balances (scales) | Medical treatment | Feasibility studies | MiRNA | Clinical trials | Gene expression | Ribonucleic acid--RNA | Disease control | Serum levels | Machado-Joseph disease | Ataxin | Vestibulo-ocular reflex | Biomarkers | Ataxia | Trinucleotide repeat diseases | Phosphopyruvate hydratase
Journal Article
Journal Article
Molecular genetics and metabolism, 12/2018
Menkes disease is a rare X-linked neurodegenerative disorder caused by defect in copper metabolism. Parenteral copper supplementation has been used as a... 
Journal Article
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