Published in Hum Mutat on February 01, 2009
Genetics of motor neuron disorders: new insights into pathogenic mechanisms. Nat Rev Genet (2009) 2.31
Hereditary spastic paraplegias: membrane traffic and the motor pathway. Nat Rev Neurosci (2011) 2.30
Axonal transport deficits and neurodegenerative diseases. Nat Rev Neurosci (2013) 2.05
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. Neurology (2014) 1.80
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Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology. Hum Genet (2015) 1.09
Axonal transport deficit in a KIF5A( -/- ) mouse model. Neurogenetics (2012) 1.06
Protrudin serves as an adaptor molecule that connects KIF5 and its cargoes in vesicular transport during process formation. Mol Biol Cell (2011) 1.05
Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model. PLoS Genet (2012) 1.05
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A hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transport. Mol Neurodegener (2010) 0.97
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses. J Hum Genet (2014) 0.92
Unique function of Kinesin Kif5A in localization of mitochondria in axons. J Neurosci (2014) 0.91
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. Neurol Sci (2010) 0.89
Three routes to suppression of the neurodegenerative phenotypes caused by kinesin heavy chain mutations. Genetics (2012) 0.87
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Clinical and imaging findings in Parkinson disease associated with the A53E SNCA mutation. Neurol Genet (2015) 0.82
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. Eur J Hum Genet (2015) 0.81
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The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med (2015) 0.78
Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2. BMC Neurol (2015) 0.75
Re-emergence of hereditary polyneuropathy in Scandinavian Alaskan malamute dogs-old enemy or new entity? A case series. Acta Vet Scand (2017) 0.75
A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss. Ann Clin Transl Neurol (2017) 0.75
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Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. PLoS One (2017) 0.75
Characterization of kinesin switch I mutations that cause hereditary spastic paraplegia. PLoS One (2017) 0.75
An emerging role for mitochondrial dynamics in schizophrenia. Schizophr Res (2017) 0.75
Forces and Disease: Electrostatic force differences caused by mutations in kinesin motor domains can distinguish between disease-causing and non-disease-causing mutations. Sci Rep (2017) 0.75
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. Eur J Hum Genet (2017) 0.75
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia. J Neurol (2016) 0.75
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science (2002) 9.90
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet (2011) 9.10
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet (2005) 7.66
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol (2008) 6.76
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
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet (2012) 4.27
A regulated interaction with the UIM protein Eps15 implicates parkin in EGF receptor trafficking and PI(3)K-Akt signalling. Nat Cell Biol (2006) 4.05
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data. Lancet Neurol (2009) 3.82
Parkinson's disease: from monogenic forms to genetic susceptibility factors. Hum Mol Genet (2009) 3.56
Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data. Lancet Neurol (2013) 3.56
Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death. Hum Mol Genet (2003) 3.51
Biological and clinical changes in premanifest and early stage Huntington's disease in the TRACK-HD study: the 12-month longitudinal analysis. Lancet Neurol (2010) 3.47
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol (2011) 3.36
Congenital glutamine deficiency with glutamine synthetase mutations. N Engl J Med (2005) 3.24
Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: analysis of 24 month observational data. Lancet Neurol (2011) 2.99
LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. N Engl J Med (2006) 2.93
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet (2004) 2.75
Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome. Am J Hum Genet (2006) 2.63
Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet (2006) 2.34
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol (2012) 2.33
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol (2013) 2.32
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Ann Neurol (2009) 2.30
Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse. Hum Mol Genet (2003) 2.26
Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity. Hum Mol Genet (2006) 2.24
Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data. Lancet Neurol (2013) 2.24
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24
What genetics tells us about the causes and mechanisms of Parkinson's disease. Physiol Rev (2011) 2.21
Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population. Hum Mol Genet (2010) 2.21
Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology (2012) 2.18
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet (2002) 2.17
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet (2007) 2.17
The phenotypic spectrum of SCN8A encephalopathy. Neurology (2015) 2.12
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet (2006) 2.09
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science (2011) 2.04
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. Brain (2013) 2.02
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci (2012) 1.97
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. J Neurol Neurosurg Psychiatry (2012) 1.94
Cdx1 and Cdx2 have overlapping functions in anteroposterior patterning and posterior axis elongation. Development (2002) 1.91
Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet (2013) 1.91
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet (2007) 1.89
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. Am J Hum Genet (2003) 1.85
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J Med Genet (2010) 1.85
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain (2008) 1.84
Hereditary spastic paraplegias: an update. Curr Opin Neurol (2007) 1.83
The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: linking protein biosynthesis and neurodegeneration. Hum Mol Genet (2003) 1.83
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain (2003) 1.82
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet (2009) 1.81
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis. Ann Neurol (2013) 1.79
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet (2008) 1.79
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. PLoS Biol (2010) 1.77
G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome. Ann Neurol (2013) 1.77
Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann Neurol (2012) 1.76
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat (2004) 1.76
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain (2007) 1.76
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet (2011) 1.74
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol (2004) 1.72
Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients. Arch Neurol (2007) 1.72
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet (2012) 1.71
Lentiviral vector delivery of parkin prevents dopaminergic degeneration in an alpha-synuclein rat model of Parkinson's disease. Proc Natl Acad Sci U S A (2004) 1.70
Parkin-mediated monoubiquitination of the PDZ protein PICK1 regulates the activity of acid-sensing ion channels. Mol Biol Cell (2007) 1.69
Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up. Am Heart J (2007) 1.69
Progranulin null mutations in both sporadic and familial frontotemporal dementia. Hum Mutat (2007) 1.69
PARK6-linked parkinsonism occurs in several European families. Ann Neurol (2002) 1.68
Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain (2003) 1.68
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Hum Mol Genet (2012) 1.68