Published in Eur J Hum Genet on January 01, 2010
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Chitinase mRNA levels by quantitative PCR using the single standard DNA: acidic mammalian chitinase is a major transcript in the mouse stomach. PLoS One (2012) 0.92
Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III. BMC Med Genet (2011) 0.88
Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7. BMC Med Genet (2012) 0.87
Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability. Eur J Hum Genet (2011) 0.86
Evaluation of peripheral blood mononuclear cell processing and analysis for Survival Motor Neuron protein. PLoS One (2012) 0.85
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. Eur J Hum Genet (2012) 0.83
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A novel procedure for absolute real-time quantification of gene expression patterns. Plant Methods (2012) 0.82
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Spinal Muscular Atrophy Biomarker Measurements from Blood Samples in a Clinical Trial of Valproic Acid in Ambulatory Adults. J Neuromuscul Dis (2015) 0.75
Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy. J Zhejiang Univ Sci B (2016) 0.75
A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy. Eur J Hum Genet (2015) 0.75
A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls. PLoS One (2016) 0.75
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Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci U S A (2001) 2.56
Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet (2003) 2.51
Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann Neurol (2003) 2.28
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology (2006) 2.11
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet (2004) 1.89
The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol (2003) 1.64
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet (2006) 1.62
A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy. Neurology (2008) 1.58
Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy. Hum Mol Genet (2005) 1.52
Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1. Hum Genet (2003) 1.52
In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Ann Neurol (2006) 1.48
SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials. Neurology (2006) 1.44
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet (2005) 1.38
A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci (1997) 1.35
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. Ann Neurol (2005) 1.30
Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy. Neurology (2006) 1.26
TaqMan amplification system with an internal positive control for HCV RNA quantitation. J Clin Virol (2004) 1.19
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells. J Med Genet (2007) 1.14
Tissue-specific expression pattern of bovine prion gene: quantification using real-time RT-PCR. Mol Cell Probes (2003) 1.10
Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA. Neurology (2007) 1.04
A novel cell immunoassay to measure survival of motor neurons protein in blood cells. BMC Neurol (2006) 1.00
Daily salbutamol in young patients with SMA type II. Neuromuscul Disord (2008) 1.00
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis. Eur J Hum Genet (1999) 0.97
The effect of hydroxyurea in spinal muscular atrophy cells and patients. J Neurol Sci (2007) 0.96
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy. Eur J Hum Genet (2007) 0.92
The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study. Neuromuscul Disord (2007) 0.88
Plasma RNA viral load in HIV-1 group O infection by real-time PCR. Methods Mol Biol (2005) 0.82
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med (2011) 3.46
Origin and timing of brain lesions in term infants with neonatal encephalopathy. Lancet (2003) 3.32
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet (2002) 3.09
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet (2006) 2.97
U1 snRNP determines mRNA length and regulates isoform expression. Cell (2012) 2.92
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain (2007) 2.88
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain (2012) 2.87
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
Respiratory complex III is required to maintain complex I in mammalian mitochondria. Mol Cell (2004) 2.61
A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability. Nat Neurosci (2007) 2.54
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol (2007) 2.52
Analysis of glutathione: implication in redox and detoxification. Clin Chim Acta (2003) 2.48
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet (2012) 2.34
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet (2007) 2.17
Elements of morphology: standard terminology for the head and face. Am J Med Genet A (2009) 2.15
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord (2010) 2.14
XLMR genes: update 2007. Eur J Hum Genet (2008) 2.07
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet (2003) 1.95
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression. FASEB J (2007) 1.92
Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging (2007) 1.91
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet (2004) 1.89
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol (2010) 1.80
miRNAs as serum biomarkers for Duchenne muscular dystrophy. EMBO Mol Med (2011) 1.80
The spectrum of WRN mutations in Werner syndrome patients. Hum Mutat (2006) 1.75
CFC syndrome. Am J Med Genet A (2003) 1.74
The ring 14 syndrome: clinical and molecular definition. Am J Med Genet A (2009) 1.70
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet (2003) 1.67
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet (2002) 1.64
The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol (2003) 1.64
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nat Genet (2012) 1.61
Hand movements at 3 months predict later hemiplegia in term infants with neonatal cerebral infarction. Dev Med Child Neurol (2009) 1.56
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat (2007) 1.56
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Neurology (2013) 1.55
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol (2005) 1.54
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1. Intensive Care Med (2006) 1.53
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation. J Neurol Neurosurg Psychiatry (2012) 1.52
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain (2007) 1.52
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol (2008) 1.52
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet (2013) 1.50
Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys. Am J Med Genet A (2010) 1.50
Cardiac and pulmonary investigations in Bethlem myopathy. Arch Neurol (2006) 1.47
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine. Nucleic Acids Res (2002) 1.47
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet (2013) 1.46
Phenotypic characterization of hypomyelination and congenital cataract. Ann Neurol (2007) 1.46
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord (2005) 1.46
Molecular dissection of the events leading to inactivation of the FMR1 gene. Hum Mol Genet (2004) 1.46
Noninvasive ventilation in children with spinal muscular atrophy types 1 and 2. Am J Phys Med Rehabil (2007) 1.44
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat (2009) 1.43
Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest (2012) 1.42
Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve (2014) 1.41
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. Am J Med Genet C Semin Med Genet (2008) 1.40
The forward parachute reaction and independent walking in infants with brain lesions. Dev Med Child Neurol (2011) 1.39
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet (2005) 1.38
A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age. Fertil Steril (2008) 1.38
Cognitive competence at the onset of West syndrome: correlation with EEG patterns and visual function. Dev Med Child Neurol (2005) 1.38
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. Eur J Hum Genet (2012) 1.36
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A (2010) 1.36
Caveolinopathies: from the biology of caveolin-3 to human diseases. Eur J Hum Genet (2009) 1.36
Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy. Proc Natl Acad Sci U S A (2013) 1.35
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy. PLoS One (2013) 1.34
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet (2003) 1.32
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat (2010) 1.32