Published in Mov Disord on July 15, 2007
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SCA17 homozygote showing Huntington's disease-like phenotype. Ann Neurol (2004) 1.72
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Botulinum toxin A injections improve apraxia of eyelid opening without overt blepharospasm associated with neurodegenerative diseases. Mov Disord (2007) 1.38
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. BMC Med Genet (2010) 1.35
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Early development of autonomic dysfunction may predict poor prognosis in patients with multiple system atrophy. Arch Neurol (2007) 1.08
Inhibition of VEGF signaling pathway attenuates hemorrhage after tPA treatment. J Cereb Blood Flow Metab (2011) 1.07
Selective silencing of a mutant transthyretin allele by small interfering RNAs. Biochem Biophys Res Commun (2005) 1.06
Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease. Ann Neurol (2002) 1.06
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The FHA domain of aprataxin interacts with the C-terminal region of XRCC1. Biochem Biophys Res Commun (2004) 1.03
Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein. Ann Neurol (2004) 1.02
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Daytime hypoxemia, sleep-disordered breathing, and laryngopharyngeal findings in multiple system atrophy. Arch Neurol (2007) 0.98
Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends. Nucleic Acids Res (2007) 0.98
Regulatory T cells in paraneoplastic neurological syndromes. J Neuroimmunol (2008) 0.98
Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72. J Neurol Neurosurg Psychiatry (2012) 0.97
Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis. Arch Neurol (2008) 0.97
Vitamin D receptor and Alzheimer's disease: a genetic and functional study. Neurobiol Aging (2012) 0.96
Hypertrophic pachymeningitis: significance of myeloperoxidase anti-neutrophil cytoplasmic antibody. Brain (2013) 0.95
A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease. Ann Neurol (2005) 0.95
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Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan. Mov Disord (2005) 0.92
Mutational analysis in early-onset familial dementia in the Japanese population. The role of PSEN1 and MAPT R406W mutations. Dement Geriatr Cogn Disord (2008) 0.92
Natural history of X-linked adrenoleukodystrophy in Japan. Brain Dev (2005) 0.91
Reduction rate of body mass index predicts prognosis for survival in amyotrophic lateral sclerosis: a multicenter study in Japan. Amyotroph Lateral Scler (2012) 0.90
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. Am J Hum Genet (2013) 0.90
Sporadic four-repeat tauopathy with frontotemporal degeneration, parkinsonism and motor neuron disease. Acta Neuropathol (2005) 0.90
Selective occurrence of TDP-43-immunoreactive inclusions in the lower motor neurons in Machado-Joseph disease. Acta Neuropathol (2009) 0.89
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly. J Med Genet (2010) 0.89
Serial assessments of delayed encephalopathy after carbon monoxide poisoning using magnetic resonance spectroscopy and diffusion tensor imaging on 3.0T system. Eur Neurol (2007) 0.88
Characteristics of aquaporin expression surrounding senile plaques and cerebral amyloid angiopathy in Alzheimer disease. J Neuropathol Exp Neurol (2012) 0.88
Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3. Brain (2007) 0.88