A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients.

PubWeight™: 2.17‹?› | Rank: Top 2%

🔗 View Article (PMID 7704025)

Published in Nat Genet on January 01, 1995

Authors

T G Thompson1, C J DiDonato, L R Simard, S E Ingraham, A H Burghes, T O Crawford, C Rochette, J R Mendell, J J Wasmuth

Author Affiliations

1: Department of Biological Chemistry, College of Medicine, University of California, Irvine 92717.

Articles citing this

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

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet (1997) 4.29

When is a deletion not a deletion? When it is converted. Am J Hum Genet (1997) 2.38

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Am J Hum Genet (1998) 1.56

Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. Proc Natl Acad Sci U S A (1995) 1.37

TDP-43 aggregation in neurodegeneration: are stress granules the key? Brain Res (2012) 1.35

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet (2001) 1.26

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. J Med Genet (1996) 1.02

Gene deletions in spinal muscular atrophy. J Med Genet (1996) 0.99

SMA genes: deleted and duplicated. Nat Genet (1995) 0.92

A high-resolution physical map of human chromosome 11. Proc Natl Acad Sci U S A (1996) 0.87

Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis. J Med Genet (1998) 0.86

Applicability of histone deacetylase inhibition for the treatment of spinal muscular atrophy. Neurotherapeutics (2013) 0.78

Molecular diagnosis of spinal muscular atrophy. Arch Dis Child (1998) 0.78

The spinal muscular atrophy gene region at 5q13.1 has a paralogous chromosomal region at 6p21.3. Mamm Genome (1998) 0.77

Enhanced expression of the central survival of motor neuron (SMN) protein during the pathogenesis of osteoarthritis. J Cell Mol Med (2013) 0.75

Molecular genetics of autosomal recessive spinal muscular atrophy. Mol Med (1996) 0.75

Articles by these authors

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell (1994) 5.96

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet (2000) 5.38

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet (1999) 5.09

The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet (1997) 4.86

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet (1997) 4.29

The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature (1988) 3.85

Antibody-mediated clearance of alphavirus infection from neurons. Science (1991) 3.70

SMN oligomerization defect correlates with spinal muscular atrophy severity. Nat Genet (1998) 3.51

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet (1995) 2.93

Isolation of polymorphic DNA fragments from human chromosome 4. Nucleic Acids Res (1987) 2.83

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science (1988) 2.82

Identification of 28 DNA fragments that detect RFLPs in 13 distinct physical regions of the short arm of chromosome 5. Nucleic Acids Res (1987) 2.72

Inclusion body myositis and myopathies. Ann Neurol (1995) 2.68

Molecular approach to analyzing the human 5p deletion syndrome, cri du chat. Somat Cell Mol Genet (1985) 2.56

Correlating phenotype and genotype in the periodic paralyses. Neurology (2004) 2.55

A cDNA clone from the Duchenne/Becker muscular dystrophy gene. Nature (1987) 2.55

Myelin-associated glycoprotein is a myelin signal that modulates the caliber of myelinated axons. J Neurosci (1998) 2.43

When is a deletion not a deletion? When it is converted. Am J Hum Genet (1997) 2.38

The utilization of recombinant prostanoid receptors to determine the affinities and selectivities of prostaglandins and related analogs. Biochim Biophys Acta (2000) 2.37

Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet (1993) 2.35

Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. Somat Cell Mol Genet (1991) 2.23

Microvascular deposition of complement membrane attack complex in dermatomyositis. N Engl J Med (1986) 2.22

Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. CIDD Study Group. Neurology (1991) 2.16

Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Am J Hum Genet (1989) 2.12

Isolation of DNA markers in the direction of the Huntington disease gene from the G8 locus. Am J Hum Genet (1988) 2.11

Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve (1981) 2.06

Linkage disequilibrium in Huntington's disease: an improved localisation for the gene. J Med Genet (1989) 2.05

Human chromosome 12 is required for elevated HIV-1 expression in human-hamster hybrid cells. Science (1989) 2.03

Clinical investigation in Duchenne dystrophy: 2. Determination of the "power" of therapeutic trials based on the natural history. Muscle Nerve (1983) 1.99

Genetic demonstration of mitotic recombination in cultured Chinese hamster cell hybrids. Cell (1984) 1.97

Selective linkage disruption in human-Chinese hamster cell hybrids: deletion mapping of the leuS, hexB, emtB, and chr genes on human chromosome 5. Mol Cell Biol (1982) 1.97

Mice lacking complex gangliosides develop Wallerian degeneration and myelination defects. Proc Natl Acad Sci U S A (1999) 1.95

Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene. J Med Genet (1989) 1.95

Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy. Neurology (1989) 1.90

The relationship between SMN, the spinal muscular atrophy protein, and nuclear coiled bodies in differentiated tissues and cultured cells. Exp Cell Res (2000) 1.89

Chronic inflammatory demyelinating polyradiculoneuropathy. Clinical characteristics, course, and recommendations for diagnostic criteria. Arch Neurol (1989) 1.88

Expression and chromosomal localization of a lymphocyte K+ channel gene. Proc Natl Acad Sci U S A (1990) 1.85

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet (2000) 1.84

Linkage of the leuS, emtB, and chr genes on chromosome 5 in humans and expression of human genes encoding protein synthetic components in human--Chinese hamster hybrids. Somatic Cell Genet (1982) 1.82

The relationship of complement-mediated microvasculopathy to the histologic features and clinical duration of disease in dermatomyositis. Arch Neurol (1991) 1.81

Effects of PMP22 duplication and deletions on the axonal cytoskeleton. Ann Neurol (1999) 1.81

Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers. Am J Hum Genet (1992) 1.81

SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens. Hum Genet (2001) 1.81

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum Mol Genet (2001) 1.80

Prednisone in Duchenne dystrophy. A randomized, controlled trial defining the time course and dose response. Clinical Investigation of Duchenne Dystrophy Group. Arch Neurol (1991) 1.78

The Ras GTPase-activating-protein-related human protein IQGAP2 harbors a potential actin binding domain and interacts with calmodulin and Rho family GTPases. Mol Cell Biol (1996) 1.77

Duchenne dystrophy: randomized, controlled trial of prednisone (18 months) and azathioprine (12 months) Neurology (1993) 1.75

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology (2001) 1.75

Mapping of human chromosome 5 microsatellite DNA polymorphisms. Genomics (1991) 1.74

Cerebral white matter changes in acquired immunodeficiency syndrome dementia: alterations of the blood-brain barrier. Ann Neurol (1993) 1.73

Acute transverse myelitis in childhood: center-based analysis of 47 cases. Neurology (2007) 1.70

Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am J Hum Genet (1991) 1.67

Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation. Hum Mol Genet (1993) 1.67

The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease. Chromosome Res (1994) 1.63

Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D. Neurology (2008) 1.63

NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients. Neurology (2005) 1.63

Loss of sarcolemmal nNOS is common in acquired and inherited neuromuscular disorders. Neurology (2011) 1.62

Painful sensory neuropathy: prospective evaluation using skin biopsy. Neurology (1999) 1.62

Toxic polyneuropathy due to methyl n-butyl ketone. An industrial outbreak. Arch Neurol (1975) 1.62

A cell hybrid and recombinant DNA library that facilitate identification of polymorphic loci in the vicinity of the Huntington disease gene. Am J Hum Genet (1986) 1.61

Deletion mapping of human chromosome 5 using chromosome-specific DNA probes. Am J Hum Genet (1985) 1.60

Cloning and expression of a cDNA for the human prostaglandin E receptor EP1 subtype. J Biol Chem (1993) 1.59

Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype. Am J Hum Genet (1986) 1.59

Genetic counterselective procedure to isolate interspecific cell hybrids containing single human chromosomes: construction of cell hybrids and recombinant DNA libraries specific for human chromosomes 3 and 4. Somat Cell Mol Genet (1986) 1.59

Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene. Genome Res (1997) 1.59

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Am J Hum Genet (1998) 1.56

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

Immunosuppressive treatment of motor neuron syndromes. Attempts to distinguish a treatable disorder. Arch Neurol (1994) 1.52

Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene. Neurology (1993) 1.52

Partial gene duplication in Duchenne and Becker muscular dystrophies. J Med Genet (1988) 1.50

Regional modulation of neurofilament organization by myelination in normal axons. J Neurosci (1994) 1.49

Quality improvement in neurology residency programs. Report of the Quality Improvement Committee of the Association of University Professors of Neurology. Neurology (1997) 1.49

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol (1999) 1.47

Peripheral nerve vasculitis: immune characterization of the vascular lesions. Ann Neurol (1989) 1.46

Sensory nerve pathology in multifocal motor neuropathy. Ann Neurol (1996) 1.46

A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates. Am J Hum Genet (1991) 1.46

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. Hum Mol Genet (1997) 1.45

Mapping of four translocation breakpoints within the Duchenne muscular dystrophy gene. Genomics (1989) 1.45

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. Hum Mol Genet (1995) 1.45

Genomic organization and alternative splicing of the human and mouse RPTPrho genes. BMC Genomics (2001) 1.44

Consequences of the delayed diagnosis of ataxia-telangiectasia. Pediatrics (1998) 1.44

Nuclear gems and Cajal (coiled) bodies in fetal tissues: nucleolar distribution of the spinal muscular atrophy protein, SMN. Exp Cell Res (2001) 1.43

Toxic polyneuropathy produced by methyl N-butyl ketone. Science (1974) 1.42

Thermal sensitivity in demyelinating neuropathy. Muscle Nerve (1993) 1.42

A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse. Nat Genet (1994) 1.41

Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol (1993) 1.41

Long-term benefit from prednisone therapy in Duchenne muscular dystrophy. Neurology (1991) 1.40

Subunit composition of neurofilaments specifies axonal diameter. J Cell Biol (1996) 1.39