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- Journal Article
- A1
- open access
Genome-wide association study identifies risk loci for cluster headache
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- Journal Article
- A1
- open access
Natural history of vanishing white matter
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Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1
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Physiological consequences of abnormal connectivity in a developmental epilepsy
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KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy
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Mutations in PEX10 are a cause of autosomal recessive ataxia
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A novel presenilin 1 mutation associated with Pick's disease but not β-amyloid plaques
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Absence of association between codon 129/219 polymorphisms of the prion protein gene and Alzheimer's disease in Japan: reply
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Early cognitive decline is associated with prion protein codon 129 polymorphism
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PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease
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A new leukodystrophy with brainstem and spinal cord involvement and high lactate
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Long-term amygdalohippocampal stimulation for refractory temporal lobe epilepsy.
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Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.
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Atypical Refsum disease with pipecolic acidemia and abnormal catalase distribution.
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Clinical approach to inherited peroxisomal disorders: A series of 27 patients.