PubRank

Thomas D Bird

Author PubWeight™ 131.39‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet 2011 10.07
2 Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 2010 5.52
3 TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. Lancet Neurol 2008 5.33
4 Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell 2010 4.37
5 GeneTests-GeneClinics: genetic testing information for a growing audience. Hum Mutat 2002 2.97
6 The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. Arch Neurol 2010 2.19
7 Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology 2012 2.08
8 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
9 Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol 2008 1.89
10 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
11 Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia. Ann Neurol 2005 1.83
12 Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders. Arch Neurol 2004 1.82
13 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
14 Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch Neurol 2005 1.78
15 Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet 2010 1.70
16 Genetics of Alzheimer disease. J Geriatr Psychiatry Neurol 2010 1.68
17 Mutations in SEPT9 cause hereditary neuralgic amyotrophy. Nat Genet 2005 1.68
18 Hereditary ataxias: overview. Genet Med 2013 1.58
19 Upregulated function of mitochondria-associated ER membranes in Alzheimer disease. EMBO J 2012 1.53
20 Evidence for a novel late-onset Alzheimer disease locus on chromosome 19p13.2. Am J Hum Genet 2004 1.51
21 Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. Arch Neurol 2006 1.49
22 Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation. Brain 2002 1.47
23 Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol 2014 1.47
24 Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch Neurol 2012 1.46
25 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
26 The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease. Arch Neurol 2010 1.46
27 Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. Brain 2010 1.45
28 An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. Ann Neurol 2002 1.44
29 Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype. Arch Neurol 2006 1.42
30 Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 2003 1.36
31 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
32 A patient with Huntington's disease and long-surviving fetal neural transplants that developed mass lesions. Acta Neuropathol 2008 1.25
33 TREM2 and neurodegenerative disease. N Engl J Med 2013 1.25
34 Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat 2012 1.25
35 Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondria. Am J Pathol 2009 1.24
36 Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's disease. J Neurol Neurosurg Psychiatry 2007 1.22
37 IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. Am J Hum Genet 2009 1.21
38 Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia. Hum Mol Genet 2006 1.13
39 Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype. Ann Neurol 2011 1.13
40 Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. Arch Neurol 2003 1.08
41 Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Mov Disord 2004 1.06
42 Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells. Hum Mol Genet 2013 1.06
43 The magnetic resonance imaging spectrum of facioscapulohumeral muscular dystrophy. Muscle Nerve 2012 1.06
44 SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve. Ann Neurol 2004 1.03
45 Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). PLoS One 2011 1.03
46 Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. Arch Neurol 2011 1.01
47 Heritability of different forms of memory in the Late Onset Alzheimer's Disease Family Study. J Alzheimers Dis 2011 1.01
48 Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation. Neurosci Lett 2010 1.00
49 Comparing test-specific distress of susceptibility versus deterministic genetic testing for Alzheimer's disease. Alzheimers Dement 2008 1.00
50 Familial dementia with lewy bodies: a clinical and neuropathological study of 2 families. Arch Neurol 2002 0.99
51 Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease. Arch Neurol 2008 0.98
52 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
53 Longitudinal features of STIR bright signal in FSHD. Muscle Nerve 2014 0.97
54 Lewy body pathology in late-onset familial Alzheimer's disease: a clinicopathological case series. J Alzheimers Dis 2006 0.96
55 Alteration in calcium channel properties is responsible for the neurotoxic action of a familial frontotemporal dementia tau mutation. J Neurochem 2003 0.96
56 Early-onset Alzheimer disease in families with late-onset Alzheimer disease: a potential important subtype of familial Alzheimer disease. Arch Neurol 2006 0.95
57 Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). Hum Mol Genet 2013 0.95
58 Conjugal Alzheimer disease: risk in children when both parents have Alzheimer disease. Arch Neurol 2008 0.95
59 CDC7 inhibition blocks pathological TDP-43 phosphorylation and neurodegeneration. Ann Neurol 2013 0.94
60 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
61 Aberrant detergent-insoluble excitatory amino acid transporter 2 accumulates in Alzheimer disease. J Neuropathol Exp Neurol 2010 0.93
62 Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolates. Hum Mol Genet 2009 0.91
63 Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1. Acta Neuropathol 2009 0.91
64 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
65 Lack of evidence for an association between UCHL1 S18Y and Parkinson's disease. Eur J Neurol 2007 0.87
66 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
67 Functional implications of a novel EA2 mutation in the P/Q-type calcium channel. Ann Neurol 2004 0.87
68 Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity. J Neurol Sci 2002 0.87
69 Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects. Hum Mutat 2013 0.86
70 Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. Arch Neurol 2005 0.85
71 Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet 2004 0.85
72 Rarity of the Alzheimer disease-protective APP A673T variant in the United States. JAMA Neurol 2015 0.84
73 Familial dementia with Lewy bodies with an atypical clinical presentation. J Geriatr Psychiatry Neurol 2003 0.83
74 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
75 Genetics of dementia. Med Clin North Am 2002 0.82
76 Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32. Am J Med Genet 2002 0.82
77 Detergent-insoluble EAAC1/EAAT3 aberrantly accumulates in hippocampal neurons of Alzheimer's disease patients. Brain Pathol 2008 0.82
78 A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. Arch Neurol 2002 0.82
79 The unique co-occurrence of spinocerebellar ataxia type 10 (SCA10) and Huntington disease. J Neurol Sci 2012 0.82
80 Ventilatory support in facioscapulohumeral muscular dystrophy. Neurology 2005 0.81
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
82 TOMM40 intron 6 poly-T length, age at onset, and neuropathology of AD in individuals with APOE ε3/ε3. Alzheimers Dement 2012 0.81
83 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
84 Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy. Hum Mol Genet 2009 0.80
85 Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance. Muscle Nerve 2013 0.80
86 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
87 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
88 Diminished taxol/GTP-stimulated tubulin polymerization in diseased region of brain from patients with late-onset or inherited Alzheimer's disease or frontotemporal dementia with parkinsonism linked to chromosome-17 but not individuals with mild cognitive impairment. J Alzheimers Dis 2005 0.79
89 Familial occurrence of dementia with Lewy bodies. Am J Geriatr Psychiatry 2004 0.79
90 A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity. Mov Disord 2010 0.79
91 Spinocerebellar ataxia type 14. Handb Clin Neurol 2012 0.79
92 Parkinsonism syndrome in heterozygotes for Niemann-Pick C1. J Neurol Sci 2013 0.79
93 TREM2 Haplodeficiency in Mice and Humans Impairs the Microglia Barrier Function Leading to Decreased Amyloid Compaction and Severe Axonal Dystrophy. Neuron 2016 0.79
94 Characterization of genetically defined types of Charcot-Marie-Tooth neuropathies by using magnetic resonance neurography. J Neurosurg 2005 0.76
95 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
96 Myotonic disorder without myotonia? Muscle Nerve 2009 0.75
97 A new disease mimicking Refsum syndrome. Neurology 2008 0.75
98 Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival. J Neurol Sci 2013 0.75
99 Assessment of mutations in KCNN2 and ZNF135 to patient neurological symptoms. Neuroreport 2017 0.75
100 Invited comments on the Shostak and Ottman review. Epilepsia 2006 0.75
101 Silver syndrome: The complexity of complicated hereditary spastic paraplegia. Neurology 2008 0.75
102 Updates on the genetics of neurodegenerative disorders. J Geriatr Psychiatry Neurol 2010 0.75
103 New gene for CMT. J Peripher Nerv Syst 2003 0.75
104 The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot. Am J Med Genet B Neuropsychiatr Genet 2016 0.75