Published in BMC Neurol on October 08, 2010
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet (2014) 1.14
A spastic paraplegia mouse model reveals REEP1-dependent ER shaping. J Clin Invest (2013) 1.03
Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation. Eur J Hum Genet (2014) 0.86
Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals. Neurol Sci (2011) 0.85
Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia. PLoS One (2012) 0.83
Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia. J Neurol (2011) 0.77
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes. Neurogenetics (2012) 0.76
Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2. BMC Neurol (2015) 0.75
Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis. Transl Neurodegener (2017) 0.75
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry (2017) 0.75
Classification of the hereditary ataxias and paraplegias. Lancet (1983) 4.44
Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol (2008) 3.49
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. J Clin Invest (2010) 2.59
A stop-codon mutation in the BRI gene associated with familial British dementia. Nature (1999) 2.46
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet (2000) 2.40
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet (2002) 2.20
High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology (2006) 2.09
Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. J Am Soc Nephrol (2007) 1.84
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol (2004) 1.72
Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations. J Neurol Neurosurg Psychiatry (2009) 1.41
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. Am J Hum Genet (2001) 1.40
Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Hum Mutat (2002) 1.38
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet (2006) 1.37
De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. Arch Neurol (2006) 1.37
Clinical features of hereditary spastic paraplegia due to spastin mutation. Neurology (2006) 1.35
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology (2006) 1.22
Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia. Eur J Hum Genet (2008) 1.20
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. Neurogenetics (2004) 1.19
Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis. Mol Cell Neurosci (2007) 1.19
Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus. Hum Mol Genet (2003) 1.18
Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mutat (2004) 1.18
Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. Arch Neurol (2002) 1.17
Recent advances in hereditary spastic paraplegia. Curr Opin Neurol (2001) 1.03
Recent advances in the genetics of spastic paraplegias. Curr Neurol Neurosci Rep (2008) 1.02
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases. J Med Genet (2005) 1.01
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations. Hum Mutat (2005) 1.01
Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia. Arch Neurol (2005) 1.00
Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. Neurogenetics (2009) 0.98
Detection of mutations in Salmonella enterica gyrA, gyrB, parC and parE genes by denaturing high performance liquid chromatography (DHPLC) using standard HPLC instrumentation. J Antimicrob Chemother (2005) 0.98
Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene. Neurology (2004) 0.97
Hereditary spastic paraplegia 3A associated with axonal neuropathy. Arch Neurol (2007) 0.97
Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia. Eur J Neurol (2007) 0.94
Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene. Neurology (2004) 0.93
SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia. J Neurol Sci (2003) 0.93
Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum. J Neurochem (2009) 0.91
Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia. J Neurol (2002) 0.91
Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia. Hum Mol Genet (2010) 0.91
Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia. Arch Neurol (2004) 0.90
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. Neurogenetics (2004) 0.88
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. Hum Mutat (2003) 0.87
Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families. Acta Neurol Scand (2008) 0.87
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. Arch Neurol (2006) 0.86
A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree. Eur J Hum Genet (2007) 0.84
Clinical and analytical findings in Gitelman's syndrome associated with homozygosity for the c.1925 G>A SLC12A3 mutation. Am J Nephrol (2009) 0.79
Novel spastin mutations and their expression analysis in two Italian families. Eur J Hum Genet (2003) 0.78
Identification of a novel mutation in the spastin gene (SPG4) in an Italian family with hereditary spastic paresis. Panminerva Med (2006) 0.77
Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements. BMC Neurol (2010) 0.76
Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron (2004) 13.99
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol (2008) 4.07
The first hominin of Europe. Nature (2008) 3.07
Apolipoprotein epsilon4 allele is associated with psoriasis severity. Arch Dermatol Res (2010) 2.66
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Mol Genet (2002) 2.65
Differential micro RNA expression in PBMC from multiple sclerosis patients. PLoS One (2009) 1.98
Oncogenicity of the developmental transcription factor Sox9. Cancer Res (2012) 1.55
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain (2014) 1.55
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1. J Neurol Neurosurg Psychiatry (2013) 1.50
Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing. Circ J (2014) 1.50
Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. J Am Soc Nephrol (2003) 1.48
Posterior fossa tumors in children with neurofibromatosis type 1 (NF1). Childs Nerv Syst (2010) 1.48
The association between the FTO gene and fat mass in humans develops by the postnatal age of two weeks. J Clin Endocrinol Metab (2008) 1.45
A small noncoding RNA signature found in exosomes of GBM patient serum as a diagnostic tool. Neuro Oncol (2014) 1.40
Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia. Neuromuscul Disord (2012) 1.40
[Molecular diagnosis of retinoblastoma: molecular epidemiology and genetic counseling]. Med Clin (Barc) (2006) 1.39
Equimolar nitrous oxide/oxygen versus placebo for procedural pain in children: a randomized trial. Pediatrics (2011) 1.38
Novel polymorphisms of nuclear receptor SHP associated with functional and structural changes. J Biol Chem (2010) 1.23
In vivo interleukin-6 protects neutrophils from apoptosis in osteomyelitis. Infect Immun (2004) 1.22
TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis. Nephrol Dial Transplant (2009) 1.21
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. Kidney Int (2003) 1.19
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain (2009) 1.18
AStream: an R package for annotating LC/MS metabolomic data. Bioinformatics (2011) 1.16
Gender specificity of body adiposity and circulating adiponectin, visfatin, insulin, and insulin growth factor-I at term birth: relation to prenatal growth. J Clin Endocrinol Metab (2008) 1.16
Birds of a feather: Neanderthal exploitation of raptors and corvids. PLoS One (2012) 1.16
TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies. J Neuropathol Exp Neurol (2009) 1.15
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1. BMC Med Genet (2009) 1.15
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia. Neuromuscul Disord (2009) 1.12
Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia. Neurobiol Aging (2013) 1.12
Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population. J Neurol Sci (2005) 1.10
Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. Eur J Hum Genet (2007) 1.10
Towards an intelligent wheelchair system for users with cerebral palsy. IEEE Trans Neural Syst Rehabil Eng (2010) 1.09
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. Hum Mutat (2011) 1.07
Carboxylation of osteocalcin affects its association with metabolic parameters in healthy children. Diabetes Care (2009) 1.06
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat (2011) 1.05
A spastic paraplegia mouse model reveals REEP1-dependent ER shaping. J Clin Invest (2013) 1.03
Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients. Clin Chem (2003) 1.03
Expression of voltage-gated potassium channels Kv1.3 and Kv1.5 in human gliomas. Neurosci Lett (2003) 1.02
Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson's disease. Mov Disord (2011) 1.01
Visceral adiposity without overweight in children born small for gestational age. J Clin Endocrinol Metab (2008) 1.01
Expression of ether à go-go potassium channels in human gliomas. Neurosci Lett (2004) 1.01
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. Am J Kidney Dis (2005) 1.01
Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations. Neurobiol Aging (2011) 1.00
Profile of microRNAs in the plasma of Parkinson's disease patients and healthy controls. J Neurol (2013) 0.99
The LRRK2 G2019S mutant exacerbates basal autophagy through activation of the MEK/ERK pathway. Cell Mol Life Sci (2012) 0.99
Bone as a technological raw material at the Gran Dolina site (Sierra de Atapuerca, Burgos, Spain). J Hum Evol (2011) 0.99
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. Hum Mutat (2012) 0.99
Current mutation discovery approaches in Retinitis Pigmentosa. Vision Res (2012) 0.98
Role of the CDKN1A/p21, CDKN1C/p57, and CDKN2A/p16 genes in the risk of atherosclerosis and myocardial infarction. Cell Cycle (2007) 0.97
[Voluminous plexiform neurofibromas of the neck region in neurofibromatosis 1]. Rev Neurol (2014) 0.97
LRIG2 mutations cause urofacial syndrome. Am J Hum Genet (2013) 0.97
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report. Orphanet J Rare Dis (2010) 0.96
Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy. Int J Cardiol (2005) 0.96
A new early Pleistocene hominin mandible from Atapuerca-TD6, Spain. J Hum Evol (2008) 0.96
Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes. Clin Chem (2004) 0.95
Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2. Mov Disord (2009) 0.95
Chemokines (RANTES and MCP-1) and chemokine-receptors (CCR2 and CCR5) gene polymorphisms in Alzheimer's and Parkinson's disease. Neurosci Lett (2004) 0.95
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. Rev Esp Cardiol (2009) 0.94
FGF20 rs12720208 SNP and microRNA-433 variation: no association with Parkinson's disease in Spanish patients. Neurosci Lett (2010) 0.94
Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques. Mov Disord (2006) 0.93
Early development of visceral fat excess after spontaneous catch-up growth in children with low birth weight. J Clin Endocrinol Metab (2007) 0.93
Mutational screening of the mortalin gene (HSPA9) in Parkinson's disease. J Neural Transm (Vienna) (2009) 0.93
Gene expression profiling in limb-girdle muscular dystrophy 2A. PLoS One (2008) 0.93
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1. Hum Mutat (2006) 0.93
Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations. Hum Mutat (2008) 0.93
Transferrin and HFE genes interact in Alzheimer's disease risk: the Epistasis Project. Neurobiol Aging (2010) 0.93
Early metformin therapy (age 8-12 years) in girls with precocious pubarche to reduce hirsutism, androgen excess, and oligomenorrhea in adolescence. J Clin Endocrinol Metab (2011) 0.93
Pharmacogenetics of tacrolimus after renal transplantation: analysis of polymorphisms in genes encoding 16 drug metabolizing enzymes. Clin Chem Lab Med (2011) 0.93
Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations. Mov Disord (2011) 0.92
A single-nucleotide polymorphism in the human p27kip1 gene (-838C>A) affects basal promoter activity and the risk of myocardial infarction. BMC Biol (2004) 0.92
Primary cardiac osteosarcoma. Clin Transl Oncol (2008) 0.92
IL-1 alpha (-889) promoter polymorphism is a risk factor for osteomyelitis. Am J Med Genet A (2003) 0.92
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. Brain (2013) 0.92
A search for SNCA 3' UTR variants identified SNP rs356165 as a determinant of disease risk and onset age in Parkinson's disease. J Mol Neurosci (2011) 0.91
Genetic variation of DKK3 may modify renal disease severity in ADPKD. J Am Soc Nephrol (2010) 0.91
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. J Neurol Neurosurg Psychiatry (2010) 0.90
Acute paraparesis following intravenous steroid therapy in a case of dural spinal arteriovenous fistula. J Neurol (2008) 0.90
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia. Neurogenetics (2008) 0.90
Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease. Alzheimer Dis Assoc Disord (2013) 0.90
Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications. BMC Med Genet (2007) 0.90
Analysis of the Micro-RNA-133 and PITX3 genes in Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet (2010) 0.90
Mitochondrial haplogroup T is negatively associated with the status of elite endurance athlete. Mitochondrion (2007) 0.90
No association between Parkinson's disease and three polymorphisms in the eNOS, nNOS, and iNOS genes. Neurosci Lett (2006) 0.90
Differential role of serotonergic polymorphisms in alcohol and heroin dependence. Prog Neuropsychopharmacol Biol Psychiatry (2009) 0.90