SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy: predicting the severity of Duchenne m...
Published in Neurology
Familial migraine with vertigo and essential tremor.
Published in Neurology
We report a family with dominantly inherited migraine headaches, episodic vertigo, and essential tremor. All symptoms improved with the use of acetazolamide. Linkage analysis ruled out linkage to markers on chromosome 19p, known to be linked to the genetic defect in families with the clinically similar syndromes of hemiplegic migraine and periodic ...
Predicting the severity of Duchenne muscular dystrophy: implications for treatment.
Published in Neurology
Suggestive linkage to chromosome 6q in families with bilateral vestibulopathy.
...Published in Neurology
Bevacizumab and chemotherapy for recurrent glioblastoma: a single-institution experience.
...Published in Neurology
A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia.
Published in Neurology
Genetic heterogeneity of autosomal dominant nonprogressive congenital ataxia.
Published in Neurology
We studied a family with nonprogressive congenital ataxia (NPCA) previously reported in 1985. Follow-up evaluation documented a nonprogressive course. Older family members developed ataxic spells and vertical oscillopsia triggered by stress and exercise. Linkage analysis using a 10K single-nucleotide polymorphism array found suggestive linkage to f...
Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS)
Published in Neurology
