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Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.
TLDR
The clinical presentation of these patients, coupled with a specific lesion visible on magnetic resonance imaging and with neuropathological findings, affords a more complete delineation of this fragile X premutation-associated tremor/ataxia syndrome and distinguishes it from other movement disorders. Expand
Chronic inflammatory demyelinating polyradiculoneuropathy. Clinical characteristics, course, and recommendations for diagnostic criteria.
TLDR
It is suggested that chronic inflammatory demyelinating polyradiculoneuropathy may be more heterogeneous than previously emphasized and proposed diagnostic criteria that allow for the heterogeneity but at the same time provide for a more consistent approach to better establish the natural history of this condition. Expand
Single‐Dose Gene‐Replacement Therapy for Spinal Muscular Atrophy
TLDR
In patients with SMA1, a single intravenous infusion of adenoviral vector containing DNA coding for SMN resulted in longer survival, superior achievement of motor milestones, and better motor function than in historical cohorts. Expand
Painful sensory neuropathy
TLDR
Patients presenting with painful feet are heterogeneous, consisting of both large and small fiber sensory neuropathies, and a limited battery of blood tests facilitated diagnosis, but serum antinerve antibodies were not helpful. Expand
A positive modifier of spinal muscular atrophy in the SMN2 gene.
TLDR
This report describes three unrelated SMA patients who possessed SMN2 copy numbers that did not correlate with the observed mild clinical phenotypes, and demonstrates that the c.859G>C substitution is a positive modifier of the SMA phenotype and that not allSMN2 genes are equivalent. Expand
Mutant small heat shock protein B3 causes motor neuropathy
TLDR
The discovery of an HSPB3 mutation associated with an axonal motor neuropathy using a candidate gene approach supports the notion that the small heat shock protein gene family coordinately plays an important role in motor neuron viability. Expand
Myoblast transfer in the treatment of Duchenne's muscular dystrophy.
TLDR
The value of exon-specific peptide antibodies in the interpretation of myoblast-transfer results was demonstrated in a patient with Duchenne's muscular dystrophy who had a high percentage of donor-derived dystrophin. Expand
Randomized controlled trial of IVIg in untreated chronic inflammatory demyelinating polyradiculoneuropathy
TLDR
IVIg improves strength in patients with untreated CIDP by day 10 with continued benefit through day 42; more than one third improve by at least a functional grade on a disability scale. Expand
Limb-Girdle Muscular Dystrophy in the United States
TLDR
It is indicated that establishing a putative subtype is possible more than half the time using available diagnostic testing and an efficient approach to genotypic diagnosis is muscle biopsy immunophenotyping followed by directed mutational analysis. Expand
Phase II Open Label Study of Valproic Acid in Spinal Muscular Atrophy
TLDR
While VPA appears safe and well-tolerated in this initial pilot trial, these data suggest that weight gain and carnitine depletion are likely to be significant confounding factors in clinical trials. Expand
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