Published in Am J Pathol on August 01, 1998
Embryonic motor axon development in the severe SMA mouse. Hum Mol Genet (2008) 1.79
Splice-site pairing is an intrinsically high fidelity process. Proc Natl Acad Sci U S A (2009) 1.44
Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease? J Anat (2013) 1.23
Induction of full-length survival motor neuron by polyphenol botanical compounds. Hum Genet (2007) 1.06
Identification and characterization of the porcine (Sus scrofa) survival motor neuron (SMN1) gene: an animal model for therapeutic studies. Dev Dyn (2008) 0.79
Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons. Sci Rep (2015) 0.77
SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage. Proc Natl Acad Sci U S A (2017) 0.76
Identification and characterization of a spinal muscular atrophy-determining gene. Cell (1995) 17.41
Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet (1997) 6.08
The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell (1997) 5.57
The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell (1995) 5.50
The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Cell (1997) 5.28
The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet (1997) 4.86
A novel nuclear structure containing the survival of motor neurons protein. EMBO J (1996) 4.72
Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc Natl Acad Sci U S A (1997) 4.70
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet (1995) 2.24
Infantile muscular atrophy. Arch Neurol (1961) 1.87
Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet (1997) 1.74
Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? Hum Mol Genet (1997) 1.67
An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. Hum Mol Genet (1996) 1.52
The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. Am J Hum Genet (1997) 1.41
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). Hum Mol Genet (1997) 1.31
Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system. Hum Mol Genet (1997) 1.28
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. Hum Mol Genet (1996) 1.23
Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. Neuropediatrics (1996) 1.11
Differential cellular expression of cystic fibrosis transmembrane regulator in human reproductive tissues. Clues for the infertility in patients with cystic fibrosis. Am J Pathol (1994) 1.10
Expression study of survival motor neuron gene in human fetal tissues. Biochem Mol Med (1997) 0.91
Olivopontocerebellar hypoplasia with anterior horn cell involvement (SMA) does not localize to chromosome 5q. Neuromuscul Disord (1995) 0.85
Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics (1987) 3.03
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet (1995) 2.24
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol (2001) 2.05
UGT1A1 gene variations and irinotecan treatment in patients with metastatic colorectal cancer. Br J Cancer (2004) 1.73
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59
Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet (1994) 1.46
Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study. Hum Genet (1992) 1.44
[Serotonin syndrome in acute poisoning with antidepressive agents]. Ann Fr Anesth Reanim (1996) 1.39
[Clinical manifestations of myotonic dystrophy: epidemiologic survey]. Med Clin (Barc) (1993) 1.38
Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients. Hum Mol Genet (1998) 1.36
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum Mutat (2001) 1.36
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. J Med Genet (2003) 1.31
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. J Med Genet (2006) 1.27
Impact of CYP2D6 polymorphisms in tamoxifen adjuvant breast cancer treatment. Breast Cancer Res Treat (2009) 1.25
Pharmacogenetic prediction of clinical outcome in advanced colorectal cancer patients receiving oxaliplatin/5-fluorouracil as first-line chemotherapy. Br J Cancer (2008) 1.19
A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. Genomics (1997) 1.16
A genotype-directed phase I-IV dose-finding study of irinotecan in combination with fluorouracil/leucovorin as first-line treatment in advanced colorectal cancer. Br J Cancer (2011) 1.15
Methylenetetrahydrofolate reductase gene polymorphisms: genomic predictors of clinical response to fluoropyrimidine-based chemotherapy? Cancer Chemother Pharmacol (2005) 1.13
Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development. Hum Mol Genet (1997) 1.10
Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation. Clin Genet (2005) 1.09
Meiotic drive at the myotonic dystrophy locus. J Med Genet (1994) 1.08
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. Hum Mutat (2006) 1.07
Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period. J Med Genet (1995) 1.07
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. J Med Genet (2007) 1.05
Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa. J Med Genet (2003) 1.04
Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area? Proc Natl Acad Sci U S A (1982) 1.02
Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families. Hum Genet (1995) 1.02
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. J Med Genet (1998) 0.99
Sex-related difference in intergenerational expansion of myotonic dystrophy gene. Lancet (1993) 0.98
Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1. Eur J Hum Genet (2000) 0.97
Determination of the spectrum of beta-thalassemia genes in Spain by use of dot-blot analysis of amplified beta-globin DNA. Am J Hum Genet (1988) 0.97
Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients. Br J Cancer (1999) 0.96
Detection of novel mutations in the SMN Tudor domain in type I SMA patients. Neurology (2004) 0.96
SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings. J Neurol (2005) 0.95
Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects. Neurology (2004) 0.94
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2). Ophthalmic Genet (2000) 0.94
Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa. Hum Mutat (2001) 0.92
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. Eur J Hum Genet (1999) 0.91
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. Clin Genet (2008) 0.91
Frequency and stability of the myotonic dystrophy type 1 premutation. Neurology (2001) 0.91
BRCA2 germ-line mutations in Spanish male breast cancer patients. Ann Oncol (2000) 0.90
Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters. Hum Mol Genet (1993) 0.90
Loss of heterozygosity on chromosome 13q12-q14, BRCA-2 mutations and lack of BRCA-2 promoter hypermethylation in sporadic epithelial ovarian tumors. Cancer (2001) 0.90
The 3' ends of the deletions of Spanish delta beta zero-thalassemia and black HPFH 1 and 2 lie within 17 kilobases. Blood (1987) 0.90
Expansion of the myotonic dystrophy gene in Italian and Spanish patients. J Med Genet (1992) 0.90
Pre-test prediction models of BRCA1 or BRCA2 mutation in breast/ovarian families attending familial cancer clinics. J Med Genet (2003) 0.90
Linkage analysis in Usher syndrome type I (USH1) families from Spain. J Med Genet (1998) 0.89
The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor. J Med Genet (2010) 0.88
Daily oral oleoyl-estrone gavage induces a dose-dependent loss of fat in Wistar rats. Obes Res (2001) 0.88
Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172. Hum Genet (1994) 0.87
Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration. Pharmacogenomics J (2012) 0.87
Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats. Am J Med Genet (1996) 0.87
A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer. Hum Genet (2013) 0.86
CTG trinucleotide repeat variability in identical twins with myotonic dystrophy. Ann Neurol (1994) 0.86
Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene. Haemophilia (2008) 0.86
[Interest in the study of genetic variants of the promoter region of the UGT1A1 gene in neonatal jaundice]. An Esp Pediatr (2002) 0.86
Colorectal cancer and HFE gene mutations. Haematologica (1999) 0.85
BRCA2 mutation analysis of 87 Spanish breast/ovarian cancer families. Ann Oncol (2001) 0.84
Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases. J Med Genet (1996) 0.84
Methotrexate consolidation treatment according to pharmacogenetics of MTHFR ameliorates event-free survival in childhood acute lymphoblastic leukaemia. Pharmacogenomics J (2011) 0.84
Allelic variants of the thiopurine S-methyltransferase deficiency in patients with ulcerative colitis and in healthy controls. Am J Gastroenterol (2000) 0.84
Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease. Clin Genet (1996) 0.84
Prenatal diagnosis for risk of spinal muscular atrophy. BJOG (2002) 0.83
High prevalence of the beta-thalassaemia nonsense 37 mutation in Catalonians from the Ebro delta. Br J Haematol (1992) 0.83
Molecular analysis of the six most recurrent mutations in the BRCA1 gene in 87 Spanish breast/ovarian cancer families. Cancer Lett (1998) 0.83
Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population. Hum Genet (1998) 0.83
Anticipation in myotonic dystrophy: a parental-sex-related phenomenon. Neuroepidemiology (1994) 0.82
BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families. Int J Cancer (1999) 0.82
Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy. J Med Genet (1995) 0.82
Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients. Neurology (2002) 0.82
Differential regulation of urokinase-type plasminogen activator expression by basic fibroblast growth factor and serum in myogenesis. Requirement of a common mitogen-activated protein kinase pathway. J Biol Chem (1998) 0.82
Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa. Hum Mutat (1996) 0.82
Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain. Blood Cells Mol Dis (2005) 0.82
Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases. Hum Genet (2001) 0.81
A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. Hum Genet (1996) 0.81
Role of (Glu --> Arg, Q5R) mutation of the intrinsic factor in pernicious anemia and other causes of low vitamin B12. Ann Hematol (2008) 0.81
Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population. Hum Genet (1992) 0.80
Frequency of the HFE C282Y and H63D mutations in distinct ethnic groups living in Spain. J Med Genet (1998) 0.80
Association between the serotonin transporter gene and personality traits in borderline personality disorder patients evaluated with Zuckerman-Zuhlman Personality Questionnaire (ZKPQ). Actas Esp Psiquiatr (2007) 0.80
Inversion of intron 22 in isolated cases of severe hemophilia A. Thromb Haemost (1995) 0.80
Spanish delta-beta-thalassemia: hematological studies and composition of the gamma-chains in ten homozygous patients. Acta Haematol (1983) 0.80
Modulation of corticosterone availability to white adipose tissue of lean and obese Zucker rats by corticosteroid-binding globulin. Horm Metab Res (2001) 0.80
Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy. J Med Genet (1995) 0.80
Oleoyl-estrone treatment affects the ponderostat setting differently in lean and obese Zucker rats. Int J Obes Relat Metab Disord (1999) 0.79
Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus. Hum Mutat (1996) 0.79
Prevalence of hemochromatosis related HFE gene mutations in patients with acute myeloid leukemia. Leuk Res (1999) 0.79
Inhibition of urokinase-type plasminogen activator (uPA) abrogates myogenesis in vitro. Thromb Haemost (1997) 0.79
Importance of mixed chimerism to predict relapse in persistently BCR/ABL positive long survivors after allogeneic bone marrow transplantation for chronic myeloid leukemia. Leuk Lymphoma (1998) 0.79
Prevalence of myotonic dystrophy in Guipúzcoa (Basque Country, Spain). Neurology (1993) 0.79
Inversions in the factor VIII gene in Spanish hemophilia A patients. Blood (1994) 0.79
C282Y and H63D mutations of the hemochromatosis candidate gene in type 2 diabetes. Diabetes Care (1999) 0.79
Molecular diagnosis of von Hippel-Lindau disease in a kindred with a predominance of familial phaeochromocytoma. Clin Endocrinol (Oxf) (1997) 0.78
Corticosterone binding to tissues of adrenalectomized lean and obese Zucker rats. Horm Metab Res (1998) 0.78
Second bone marrow transplantation for leukemia in untreated relapse. Bone Marrow Transplant (1994) 0.78
Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene. Eur J Hum Genet (1998) 0.78
Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle. Clin Genet (2011) 0.78
Corticosteroid-binding globulin synthesis and distribution in rat white adipose tissue. Mol Cell Biochem (2001) 0.78
The S65C mutation in Spain. Implications for iron overload screening. Haematologica (2000) 0.77
Inhibitor development in haemophilia A patients with inversion of the intron 22 of the factor VIII gene. Thromb Haemost (1996) 0.77