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Consensus definitions proposed for pediatric multiple sclerosis and related disorders
Background: The CNS inflammatory demyelinating disorders of childhood include both self-limited and lifelong conditions, which can be indistinguishable at the time of initial presentation. Clinical,Expand
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Defining the clinical course of multiple sclerosis
Accurate clinical course descriptions (phenotypes) of multiple sclerosis (MS) are important for communication, prognostication, design and recruitment of clinical trials, and treatmentExpand
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International Pediatric Multiple Sclerosis Study Group criteria for pediatric multiple sclerosis and immune-mediated central nervous system demyelinating disorders: revisions to the 2007 definitions
Background: There has been tremendous growth in research in pediatric multiple sclerosis (MS) and immune mediated central nervous system demyelinating disorders since operational definitions forExpand
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Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease
Alexander disease is a progressive, usually fatal neurological disorder defined by the widespread and abundant presence in astrocytes of protein aggregates called Rosenthal fibers. The disease mostExpand
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Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy
We analyzed four families that presented with a similar condition characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. We showExpand
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Epstein-Barr virus in pediatric multiple sclerosis.
CONTEXT Infection with common viruses, particularly Epstein-Barr virus (EBV), has been postulated to contribute to the pathobiology of multiple sclerosis (MS). Detailed virological studies inExpand
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Treatment optimization in MS: Canadian MS Working Group updated recommendations.
The Canadian Multiple Sclerosis Working Group (CMSWG) developed practical recommendations in 2004 to assist clinicians in optimizing the use of disease-modifying therapies (DMT) in patients withExpand
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Pediatric multiple sclerosis
Purpose of review This review discusses the epidemiologic factors involved in the pathogenesis of pediatric multiple sclerosis (MS), which have been the focus of numerous studies in the last severalExpand
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Cerebellar ataxia and coenzyme Q10 deficiency
The authors measured coenzyme Q10 (CoQ10) concentration in muscle biopsies from 135 patients with genetically undefined cerebellar ataxia. Thirteen patients with childhood-onset ataxia and cerebellarExpand
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Gentamicin‐induced readthrough of stop codons in duchenne muscular dystrophy
The objective of this study was to establish the feasibility of long‐term gentamicin dosing to achieve stop codon readthrough and produce full‐length dystrophin. Mutation suppression of stop codons,Expand
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