PubRank

Henry Houlden

Author PubWeight™ 160.83‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet 2009 10.34
2 Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 2012 5.18
3 Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 2009 4.01
4 Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol 2009 3.62
5 SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol 2009 3.55
6 Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus. Nat Commun 2011 3.23
7 A common polymorphism in the brain-derived neurotrophic factor gene (BDNF) modulates human cortical plasticity and the response to rTMS. J Physiol 2008 3.00
8 Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol 2010 2.48
9 ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Mov Disord 2010 2.47
10 Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet 2009 2.32
11 Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry 2012 2.20
12 Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 2011 2.17
13 Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet 2007 2.09
14 Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet 2013 2.09
15 Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Am J Hum Genet 2010 2.08
16 Identical twins with Leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease. Mov Disord 2012 2.02
17 Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. J Biol Chem 2010 1.93
18 Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain 2013 1.93
19 Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol 2013 1.90
20 Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol 2013 1.88
21 α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy? Acta Neuropathol 2013 1.75
22 Towards a complete resolution of the genetic architecture of disease. Trends Genet 2010 1.75
23 A novel α-synuclein missense mutation in Parkinson disease. Neurology 2013 1.74
24 KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet 2011 1.66
25 Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. Neurobiol Aging 2010 1.56
26 Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord 2010 1.56
27 Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia. Arch Neurol 2003 1.55
28 Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet 2013 1.51
29 Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain 2010 1.51
30 Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. Dev Med Child Neurol 2013 1.51
31 Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain 2012 1.50
32 Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels. Neuron 2013 1.45
33 Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Hum Mutat 2010 1.44
34 PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology 2012 1.44
35 Recent advances in the genetics of cerebellar ataxias. Curr Neurol Neurosci Rep 2012 1.37
36 Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology 2012 1.33
37 Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet 2013 1.22
38 Exome sequencing in Brown-Vialetto-van Laere syndrome. Am J Hum Genet 2010 1.22
39 The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nat Neurosci 2013 1.19
40 Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course. Mov Disord 2011 1.15
41 Mutant COQ2 in multiple-system atrophy. N Engl J Med 2014 1.14
42 Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. Neurology 2012 1.11
43 Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling. Trends Neurosci 2010 1.10
44 Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer. Acta Neuropathol Commun 2014 1.09
45 Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. J Neurol Neurosurg Psychiatry 2013 1.09
46 A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy. J Med Genet 2010 1.08
47 Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1. Brain 2003 1.07
48 The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features. Neurobiol Aging 2012 1.07
49 Hereditary sensory neuropathies. Curr Opin Neurol 2004 1.06
50 C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. Neurology 2013 1.06
51 Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. J Neurol Neurosurg Psychiatry 2013 1.06
52 Validation of next-generation sequencing technologies in genetic diagnosis of dementia. Neurobiol Aging 2013 1.05
53 Genetic variability at the PARK16 locus. Eur J Hum Genet 2010 1.01
54 α-Synuclein mutations cluster around a putative protein loop. Neurosci Lett 2013 1.00
55 THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord 2012 1.00
56 c-Jun expression in human neuropathies: a pilot study. J Peripher Nerv Syst 2011 1.00
57 The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics. Hum Mutat 2012 0.99
58 Alpha-synuclein mRNA expression in oligodendrocytes in MSA. Glia 2014 0.99
59 Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. Neuromuscul Disord 2013 0.98
60 Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene. Hum Mol Genet 2003 0.97
61 Genetic risk factors for intracranial aneurysms: a meta-analysis in more than 116,000 individuals. Neurology 2013 0.96
62 Sporadic inclusion body myositis: the genetic contributions to the pathogenesis. Orphanet J Rare Dis 2014 0.95
63 High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients. Neurobiol Aging 2012 0.95
64 Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data. Mov Disord 2013 0.94
65 Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred). Mov Disord 2011 0.93
66 Common pathogenic pathways in melanoma and Parkinson disease. Neurology 2010 0.92
67 The phenotypic spectrum of DYT24 due to ANO3 mutations. Mov Disord 2014 0.92
68 Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. Dev Med Child Neurol 2012 0.92
69 Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency. Dev Med Child Neurol 2010 0.89
70 Dystonic opisthotonus: a "red flag" for neurodegeneration with brain iron accumulation syndromes? Mov Disord 2013 0.89
71 Characterisation and validation of insertions and deletions in 173 patient exomes. PLoS One 2012 0.89
72 Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLoS One 2012 0.88
73 An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description. Mov Disord 2010 0.88
74 POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. Arch Neurol 2008 0.88
75 Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. J Neurol Neurosurg Psychiatry 2013 0.88
76 Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgia. Neuromolecular Med 2013 0.87
77 Mutation in FAM134B causing severe hereditary sensory neuropathy. J Neurol Neurosurg Psychiatry 2010 0.87
78 Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder. Am J Med Genet B Neuropsychiatr Genet 2009 0.86
79 Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. Neurology 2013 0.85
80 Mutational analysis of parkin and PINK1 in multiple system atrophy. Neurobiol Aging 2010 0.85
81 Assessment of Parkinson's disease risk loci in Greece. Neurobiol Aging 2013 0.84
82 A novel tau mutation in exon 9 (1260V) causes a four-repeat tauopathy. Exp Neurol 2003 0.84
83 Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Hum Mutat 2012 0.84
84 The frequency of spinocerebellar ataxia type 23 in a UK population. J Neurol 2012 0.84
85 A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease. J Peripher Nerv Syst 2011 0.83
86 Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. J Neurol 2013 0.83
87 THAP1 mutations in a Greek primary blepharospasm series. Parkinsonism Relat Disord 2012 0.83
88 Mutations in γ adducin are associated with inherited cerebral palsy. Ann Neurol 2013 0.82
89 NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease. Cell Rep 2013 0.82
90 A novel DNA sequence variation in the first genetically confirmed allgrove syndrome in iran. J Clin Neuromuscul Dis 2006 0.82
91 Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes. Brain 2013 0.81
92 Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. J Neurol Sci 2013 0.81
93 TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT. Neurobiol Aging 2013 0.81
94 The diagnosis of adrenal insufficiency in a patient with Allgrove syndrome and a novel mutation in the ALADIN gene. Metabolism 2005 0.81
95 A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. Am J Hum Genet 2013 0.81
96 Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis. PLoS One 2013 0.81
97 Recent advances in bulbar syndromes: genetic causes and disease mechanisms. Curr Opin Neurol 2014 0.80
98 Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. Neurology 2012 0.80
99 X inactivation in females with X-linked Charcot-Marie-Tooth disease. Neuromuscul Disord 2012 0.80
100 Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. J Neurol Sci 2011 0.80
101 The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test. Acta Neuropathol Commun 2014 0.80
102 Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease. Brain 2012 0.80
103 Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family. Mov Disord 2012 0.80
104 Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity. Neuromolecular Med 2015 0.79
105 Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms. Mov Disord 2010 0.79
106 A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2. J Peripher Nerv Syst 2012 0.78
107 Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia. J Neurol Sci 2012 0.78
108 Ongoing developments in sporadic inclusion body myositis. Curr Rheumatol Rep 2014 0.78
109 Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations. Mov Disord 2014 0.78
110 Thinning of the corpus callosum and cerebellar atrophy is correlated with phenotypic severity in a family with spastic paraplegia type 11. J Clin Neurol 2011 0.78
111 Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. J Neurol Neurosurg Psychiatry 2012 0.78
112 Erratum to "The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism" [Neurobiol. Aging 36 (2015) 1221.e1-1221.e6]. Neurobiol Aging 2015 0.78
113 Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia. Amyotroph Lateral Scler 2010 0.77
114 Clinical and genetic analysis of spinocerebellar ataxia type 11. Cerebellum 2008 0.77
115 Defects of RNA metabolism in the pathogenesis of spinal muscular atrophy. Neurology 2014 0.77
116 Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. Neurology 2002 0.77
117 Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics 2011 0.77
118 The pallidopyramidal syndromes: nosology, aetiology and pathogenesis. Curr Opin Neurol 2013 0.76
119 Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. Neurosci Lett 2012 0.76
120 Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series. Mov Disord 2010 0.76
121 What are the experiences of adults returning to work following recovery from Guillain-Barré syndrome? An interpretative phenomenological analysis. Disabil Rehabil 2009 0.76
122 Genetic advances in sporadic inclusion body myositis. Curr Opin Rheumatol 2015 0.76
123 Multiple system atrophy: the application of genetics in understanding etiology. Clin Auton Res 2015 0.75
124 Next-generation sequencing in neuromuscular diseases. Curr Opin Neurol 2016 0.75
125 SPG11 Presenting with Tremor. Tremor Other Hyperkinet Mov (N Y) 2012 0.75
126 Sniffing out the cerebellum. J Neurol Neurosurg Psychiatry 2012 0.75
127 Benefit of carbamazepine in a patient with hemiplegic migraine associated with PRRT2 mutation. Dev Med Child Neurol 2014 0.75
128 Erratum to: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation. J Neurol 2015 0.75
129 Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion. J Peripher Nerv Syst 2012 0.75
130 DYT6 Dystonia: A Neuropathological Study. Neurodegener Dis 2015 0.75
131 Genetic linkage analysis of a large family with photoparoxysmal response. Epilepsy Res 2011 0.75
132 Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet 2017 0.75
133 A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient. J Neurol 2015 0.75
134 Hypersomnia with dilated pupils in adenosine monophosphate deaminase (AMPD) deficiency. J Sleep Res 2013 0.75
135 Familial idiopathic brain calcification--a new and familial alpha-synucleinopathy? Eur Neurol 2003 0.75
136 Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies. J Neurol 2015 0.75
137 Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation. J Neurol 2015 0.75
138 Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44. Am J Hum Genet 2017 0.75