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Juvenile and adult-onset acid maltase deficiency in France: Genotype–phenotype correlation
To the Editor: The article by Laforêt et al.1 on French patients with juvenileand adult-onset glycogen storage disease type II (GSD II) compels us to react to their main conclusions, which weExpand
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Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 × 10−4 in aExpand
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Necrotising myopathy, an unusual presentation of a steroid-responsive myopathy
Abstract.Objective: To evaluate the clinical features, muscle pathology and response to treatment in patients with a necrotising myopathy, without mononuclear cell infiltrates. Background:Expand
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Diagnostic value of high-resolution sonography in ulnar neuropathy at the elbow
Objective: To determine the diagnostic value of high-resolution sonography in ulnar neuropathy at the elbow (UNE). Methods: Sonographic ulnar nerve diameter measurement was compared at three levelsExpand
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Ultrasonography shows extensive nerve enlargements in multifocal motor neuropathy
Using ultrasonography we found multiple sites with nerve enlargement along the course of the brachial plexus, median, ulnar, and radial nerves in the majority of 21 patients with multifocal motorExpand
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Chronic idiopathic axonal polyneuropathy: a five year follow up.
Seventy five patients with chronic idiopathic axonal polyneuropathy (CIAP) were studied for five years. The standardised and quantified neurological examination shows that progression of CIAP isExpand
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Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis is a degenerative disorder of motor neurons that typically develops in the 6th decade and is uniformly fatal, usually within 5 years. To identify genetic variantsExpand
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Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS
Background: Spinal muscular atrophy (SMA) results from mutations of the survival motor neuron (SMN) gene on chromosome 5. The SMN gene exists in two highly homologous copies, telomeric (SMN1) andExpand
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Long-term outcome in polymyositis and dermatomyositis
Background: Although polymyositis and dermatomyositis are regarded as treatable disorders, prognosis is not well known, as in the literature long-term outcome and prognostic factors vary widely. Aim:Expand
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Disease course and prognostic factors of progressive muscular atrophy.
OBJECTIVE To investigate the natural history and prognostic factors in patients with nonhereditary, adult-onset progressive muscular atrophy. DESIGN Inception cohort conducted for 18 months.Expand
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