Published in Neurology on November 12, 2008
A novel Refsum-like disorder that maps to chromosome 20. Neurology (2008) 1.52
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. Lancet Neurol (2008) 5.33
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell (2010) 4.37
GeneTests-GeneClinics: genetic testing information for a growing audience. Hum Mutat (2002) 2.97
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. Arch Neurol (2010) 2.19
Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology (2012) 2.08
Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. PLoS Genet (2011) 2.02
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol (2008) 1.89
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am J Hum Genet (2002) 1.88
Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia. Ann Neurol (2005) 1.83
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders. Arch Neurol (2004) 1.82
APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation. Am J Med Genet B Neuropsychiatr Genet (2005) 1.80
Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch Neurol (2005) 1.78
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet (2010) 1.70
Genetics of Alzheimer disease. J Geriatr Psychiatry Neurol (2010) 1.68
Mutations in SEPT9 cause hereditary neuralgic amyotrophy. Nat Genet (2005) 1.68
Hereditary ataxias: overview. Genet Med (2013) 1.58
Upregulated function of mitochondria-associated ER membranes in Alzheimer disease. EMBO J (2012) 1.53
Evidence for a novel late-onset Alzheimer disease locus on chromosome 19p13.2. Am J Hum Genet (2004) 1.51
Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. Arch Neurol (2006) 1.49
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol (2014) 1.47
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch Neurol (2012) 1.46
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet (2012) 1.46
The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease. Arch Neurol (2010) 1.46
Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. Brain (2010) 1.45
An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. Ann Neurol (2002) 1.44
Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype. Arch Neurol (2006) 1.42
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet (2003) 1.36
LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago. Am J Hum Genet (2006) 1.26
A patient with Huntington's disease and long-surviving fetal neural transplants that developed mass lesions. Acta Neuropathol (2008) 1.25
TREM2 and neurodegenerative disease. N Engl J Med (2013) 1.25
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat (2012) 1.25
Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondria. Am J Pathol (2009) 1.24
Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's disease. J Neurol Neurosurg Psychiatry (2007) 1.22
IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. Am J Hum Genet (2009) 1.21
Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia. Hum Mol Genet (2006) 1.13
Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype. Ann Neurol (2011) 1.13
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. Arch Neurol (2003) 1.08
Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Mov Disord (2004) 1.06
Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells. Hum Mol Genet (2013) 1.06
The magnetic resonance imaging spectrum of facioscapulohumeral muscular dystrophy. Muscle Nerve (2012) 1.06
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve. Ann Neurol (2004) 1.03
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). PLoS One (2011) 1.03
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. Arch Neurol (2011) 1.01
Heritability of different forms of memory in the Late Onset Alzheimer's Disease Family Study. J Alzheimers Dis (2011) 1.01
Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation. Neurosci Lett (2010) 1.00
Comparing test-specific distress of susceptibility versus deterministic genetic testing for Alzheimer's disease. Alzheimers Dement (2008) 1.00
Familial dementia with lewy bodies: a clinical and neuropathological study of 2 families. Arch Neurol (2002) 0.99
Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease. Arch Neurol (2008) 0.98
Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21. Am J Med Genet B Neuropsychiatr Genet (2009) 0.97
Longitudinal features of STIR bright signal in FSHD. Muscle Nerve (2014) 0.97
Lewy body pathology in late-onset familial Alzheimer's disease: a clinicopathological case series. J Alzheimers Dis (2006) 0.96
Alteration in calcium channel properties is responsible for the neurotoxic action of a familial frontotemporal dementia tau mutation. J Neurochem (2003) 0.96
Conjugal Alzheimer disease: risk in children when both parents have Alzheimer disease. Arch Neurol (2008) 0.95
Early-onset Alzheimer disease in families with late-onset Alzheimer disease: a potential important subtype of familial Alzheimer disease. Arch Neurol (2006) 0.95
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). Hum Mol Genet (2013) 0.95
A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations. J Neurol Sci (2010) 0.94
CDC7 inhibition blocks pathological TDP-43 phosphorylation and neurodegeneration. Ann Neurol (2013) 0.94
Aberrant detergent-insoluble excitatory amino acid transporter 2 accumulates in Alzheimer disease. J Neuropathol Exp Neurol (2010) 0.93
Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolates. Hum Mol Genet (2009) 0.91
Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1. Acta Neuropathol (2009) 0.91
Evidence for three loci modifying age-at-onset of Alzheimer's disease in early-onset PSEN2 families. Am J Med Genet B Neuropsychiatr Genet (2010) 0.90
Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity. J Neurol Sci (2002) 0.87
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Hum Mol Genet (2012) 0.87
Lack of evidence for an association between UCHL1 S18Y and Parkinson's disease. Eur J Neurol (2007) 0.87
Functional implications of a novel EA2 mutation in the P/Q-type calcium channel. Ann Neurol (2004) 0.87
Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects. Hum Mutat (2013) 0.86
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet (2004) 0.85
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. Arch Neurol (2005) 0.85
Rarity of the Alzheimer disease-protective APP A673T variant in the United States. JAMA Neurol (2015) 0.84
Familial dementia with Lewy bodies with an atypical clinical presentation. J Geriatr Psychiatry Neurol (2003) 0.83
Accounting for linkage disequilibrium among markers in linkage analysis: impact of haplotype frequency estimation and molecular haplotypes for a gene in a candidate region for Alzheimer's disease. Hum Hered (2007) 0.83
Genetics of dementia. Med Clin North Am (2002) 0.82
Detergent-insoluble EAAC1/EAAT3 aberrantly accumulates in hippocampal neurons of Alzheimer's disease patients. Brain Pathol (2008) 0.82
A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. Arch Neurol (2002) 0.82
Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32. Am J Med Genet (2002) 0.82
The unique co-occurrence of spinocerebellar ataxia type 10 (SCA10) and Huntington disease. J Neurol Sci (2012) 0.82
Ventilatory support in facioscapulohumeral muscular dystrophy. Neurology (2005) 0.81
TOMM40 intron 6 poly-T length, age at onset, and neuropathology of AD in individuals with APOE ε3/ε3. Alzheimers Dement (2012) 0.81
Genome scan of age-at-onset in the NIMH Alzheimer disease sample uncovers multiple loci, along with evidence of both genetic and sample heterogeneity. Am J Med Genet B Neuropsychiatr Genet (2011) 0.81
Novel antibody capture assay for paraffin-embedded tissue detects wide-ranging amyloid beta and paired helical filament-tau accumulation in cognitively normal older adults. Brain Pathol (2011) 0.81
The Arctic AβPP mutation leads to Alzheimer's disease pathology with highly variable topographic deposition of differentially truncated Aβ. Acta Neuropathol Commun (2013) 0.80
Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies. Am J Hum Genet (2001) 0.80
Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance. Muscle Nerve (2013) 0.80
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy. Hum Mol Genet (2009) 0.80
Parkinsonism syndrome in heterozygotes for Niemann-Pick C1. J Neurol Sci (2013) 0.79
A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity. Mov Disord (2010) 0.79
Familial occurrence of dementia with Lewy bodies. Am J Geriatr Psychiatry (2004) 0.79
Spinocerebellar ataxia type 14. Handb Clin Neurol (2012) 0.79
TREM2 Haplodeficiency in Mice and Humans Impairs the Microglia Barrier Function Leading to Decreased Amyloid Compaction and Severe Axonal Dystrophy. Neuron (2016) 0.79
Characterization of genetically defined types of Charcot-Marie-Tooth neuropathies by using magnetic resonance neurography. J Neurosurg (2005) 0.76
Genome scan in familial late-onset Alzheimer's disease: a locus on chromosome 6 contributes to age-at-onset. Am J Med Genet B Neuropsychiatr Genet (2013) 0.76
Myotonic disorder without myotonia? Muscle Nerve (2009) 0.75
Silver syndrome: The complexity of complicated hereditary spastic paraplegia. Neurology (2008) 0.75
Invited comments on the Shostak and Ottman review. Epilepsia (2006) 0.75
Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival. J Neurol Sci (2013) 0.75
Assessment of mutations in KCNN2 and ZNF135 to patient neurological symptoms. Neuroreport (2017) 0.75