5 Result(s)
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Article
Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions
A 46-year-old patient developed amyotrophic lateral sclerosis (ALS) characterized by rapid progression. She needed respiratory assistance after a course of 9 months. She died 4.5 years after onset. Autopsy sho...
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Article
Open AccessNatural history of Barth syndrome: a national cohort study of 22 patients
This study describes the natural history of Barth syndrome (BTHS).
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Article
Open AccessPhenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression
Autosomal recessive cerebellar ataxia 2 (ARCA2) is a recently identified recessive ataxia due to ubiquinone deficiency and biallelic mutations in the ADCK3 gene. The phenotype of the twenty-one patients reported ...
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Article
Open AccessSengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients
Sengers syndrome is an autosomal recessive condition characterized by congenital cataract, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis. Mutations in the acylglycerol kinase (AGK) gene have ...
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Article
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles
To improve the diagnostic work-up of patients with diverse neurological diseases, we have elaborated specific clinical and CSF neurotransmitter patterns.
