Linkage of proximal myotonic myopathy to chromosome 3q.

PubWeight™: 1.60‹?› | Rank: Top 4%

🔗 View Article (PMID 9921867)

Published in Neurology on January 01, 1999

Authors

K Ricker1, T Grimm, M C Koch, C Schneider, W Kress, C D Reimers, W Schulte-Mattler, B Mueller-Myhsok, K V Toyka, C R Mueller

Author Affiliations

1: Department of Neurology, University of Würzburg, Germany. Kenneth.Ricker@t-online.de

Articles by these authors

The transcriptional landscape of the mammalian genome. Science (2005) 37.63

Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature (2002) 28.79

Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature (1982) 11.57

Regulation of actin dynamics through phosphorylation of cofilin by LIM-kinase. Nature (1998) 7.76

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science (2001) 7.34

A one-step purification of membrane proteins using a high efficiency immunomatrix. J Biol Chem (1982) 6.70

Crystal structure of an Hsp90-geldanamycin complex: targeting of a protein chaperone by an antitumor agent. Cell (1997) 5.73

The abdominal constriction response and its suppression by analgesic drugs in the mouse. Br J Pharmacol Chemother (1968) 4.75

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

Ubiquitous cell-surface glycoprotein on tumor cells is proliferation-associated receptor for transferrin. Proc Natl Acad Sci U S A (1981) 4.50

Cloning of the human cDNA for the U1 RNA-associated 70K protein. EMBO J (1986) 4.43

High-efficiency full-length cDNA cloning by biotinylated CAP trapper. Genomics (1996) 4.41

Convenient single-step, one tube purification of PCR products for direct sequencing. Nucleic Acids Res (1994) 4.30

Primary structure of human transferrin receptor deduced from the mRNA sequence. Nature (1984) 4.04

Differentiation between cellular apoptosis and necrosis by the combined use of in situ tailing and nick translation techniques. Lab Invest (1994) 3.58

The CTAB-DNA precipitation method: a common mini-scale preparation of template DNA from phagemids, phages or plasmids suitable for sequencing. Biotechniques (1989) 3.54

A one-tube plasmid DNA mini-preparation suitable for sequencing. Nucleic Acids Res (1988) 3.51

Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of Gli-1. Nat Cell Biol (1999) 3.32

Structure of a Bag/Hsc70 complex: convergent functional evolution of Hsp70 nucleotide exchange factors. Science (2001) 3.27

Botulinum toxin for palmar hyperhidrosis. Lancet (1997) 3.17

Early and selective loss of neuromuscular synapse subtypes with low sprouting competence in motoneuron diseases. J Neurosci (2000) 3.14

The protein encoded by a growth arrest-specific gene (gas6) is a new member of the vitamin K-dependent proteins related to protein S, a negative coregulator in the blood coagulation cascade. Mol Cell Biol (1993) 2.95

Polyomavirus origin for DNA replication comprises multiple genetic elements. J Virol (1983) 2.89

Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. Mol Psychiatry (2001) 2.84

MR imaging and cardiac pacemakers: in-vitro evaluation and in-vivo studies in 51 patients at 0.5 T. Radiology (2000) 2.77

Overexpression of the neural growth-associated protein GAP-43 induces nerve sprouting in the adult nervous system of transgenic mice. Cell (1995) 2.75

Monoclonal antibodies OKT 11 and OKT 11A have pan-T reactivity and block sheep erythrocyte "receptors". Eur J Immunol (1982) 2.72

Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology (2003) 2.70

Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet (1991) 2.65

Electrophysiological classification of Guillain-Barré syndrome: clinical associations and outcome. Plasma Exchange/Sandoglobulin Guillain-Barré Syndrome Trial Group. Ann Neurol (1998) 2.47

A new and fast method for preparing high quality lambda DNA suitable for sequencing. Nucleic Acids Res (1988) 2.46

Discriminatory power of three DNA-based typing techniques for Pseudomonas aeruginosa. J Clin Microbiol (1995) 2.43

Regulation of p53 activity in nuclear bodies by a specific PML isoform. EMBO J (2000) 2.38

The unenlarged lymph nodes of HIV-1-infected, asymptomatic patients with high CD4 T cell counts are sites for virus replication and CD4 T cell proliferation. The impact of highly active antiretroviral therapy. J Exp Med (1998) 2.35

Myasthenia gravis. Study of humoral immune mechanisms by passive transfer to mice. N Engl J Med (1977) 2.23

The transmembrane segment of the human transferrin receptor functions as a signal peptide. EMBO J (1986) 2.18

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. Am J Hum Genet (2000) 2.18

A fast method for high-quality genomic DNA extraction from whole human blood. Biotechniques (1991) 2.15

Activated Ras interacts with the Ral guanine nucleotide dissociation stimulator. Proc Natl Acad Sci U S A (1994) 2.14

A phase I/II trial of recombinant methionyl human brain derived neurotrophic factor administered by intrathecal infusion to patients with amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord (2000) 2.12

High efficiency selection of full-length cDNA by improved biotinylated cap trapper. DNA Res (1997) 2.11

HGF receptor associates with the anti-apoptotic protein BAG-1 and prevents cell death. EMBO J (1996) 2.09

A role for BDNF in mechanosensation. Nat Neurosci (1998) 2.08

Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). EMBO J (1994) 2.08

Missense mutations at ALA-10 in the factor IX propeptide: an insignificant variant in normal life but a decisive cause of bleeding during oral anticoagulant therapy. Br J Haematol (1997) 2.08

Modification of morphine withdrawal by drugs interacting with humoral mechanisms: some contradictions and their interpretation. Nature (1972) 2.04

[A patient with muscle pain after a journey to the tropics. Myocardial involvement in proximal myotonic myopathy]. Dtsch Med Wochenschr (1998) 2.03

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD) Hum Mol Genet (1995) 2.02

Protease inhibitor-containing regimens compared with nucleoside analogues alone in the suppression of persistent HIV-1 replication in lymphoid tissue. AIDS (1999) 2.00

Totally extraperitoneal endoscopic inguinal hernia repair (TEP). Surg Endosc (2002) 2.00

The human gene for alkaptonuria (AKU) maps to chromosome 3q. Genomics (1994) 1.99

A novel U2 and U11/U12 snRNP protein that associates with the pre-mRNA branch site. EMBO J (2001) 1.97

Identification of both shared and distinct proteins in the major and minor spliceosomes. Science (1999) 1.96

A European survey of diagnostic methods and testing protocols for Clostridium difficile. Clin Microbiol Infect (2003) 1.94

Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel. Neuron (1995) 1.94

The spectrum of immune responses to Campylobacter jejuni and glycoconjugates in Guillain-Barré syndrome and in other neuroimmunological disorders. Ann Neurol (1993) 1.92

Can rabies be eradicated? Dev Biol (Basel) (2008) 1.91

Microfilament reorganization during apoptosis: the role of Gas2, a possible substrate for ICE-like proteases. EMBO J (1995) 1.91

Myasthenia gravis: passive transfer from man to mouse. Science (1975) 1.90

The growth arrest-specific gene, gas1, is involved in growth suppression. Cell (1992) 1.89

Quasi morphine-abstinence syndrome. Nature (1974) 1.85

Structural features of the cell surface receptor for transferrin that is recognized by the monoclonal antibody OKT9. J Biol Chem (1982) 1.84

Focal hyperhidrosis: effective treatment with intracutaneous botulinum toxin. Arch Dermatol (1998) 1.83

Fatigue in multiple sclerosis: a comparison of different rating scales and correlation to clinical parameters. Mult Scler (2002) 1.80

Elevated proinflammatory cytokine expression in affected skin in small fiber neuropathy. Neurology (2010) 1.80

Requirement of phosphatidylinositol 3-kinase-dependent pathway and Src for Gas6-Axl mitogenic and survival activities in NIH 3T3 fibroblasts. Mol Cell Biol (1997) 1.80

Gas6, the ligand of Axl tyrosine kinase receptor, has mitogenic and survival activities for serum starved NIH3T3 fibroblasts. Oncogene (1996) 1.78

Injections of botulinum toxin A into the salivary glands improve sialorrhoea in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry (2000) 1.77

Autonomic dysfunction in multiple sclerosis is related to disease activity and progression of disability. Mult Scler (2001) 1.76

RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol (2010) 1.75

Preceding infections, immune factors, and outcome in Guillain-Barré syndrome. Neurology (2001) 1.74

Behavioural changes induced in mice following termination of ethanol administration. Br J Pharmacol (1973) 1.74

MTM1 mutations in X-linked myotubular myopathy. Hum Mutat (2000) 1.72

A simple and fast method for preparing single stranded DNA template suitable for sequencing. Nucleic Acids Res (1987) 1.68

Staging of colonic neoplasms by colonoscopic miniprobe ultrasonography. Int J Colorectal Dis (2003) 1.68

Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice. Proc Natl Acad Sci U S A (1996) 1.68

Impaired motor cortex inhibition in patients with amyotrophic lateral sclerosis. Evidence from paired transcranial magnetic stimulation. Neurology (1997) 1.67

Studies on the corticospinal control of human walking. I. Responses to focal transcranial magnetic stimulation of the motor cortex. J Neurophysiol (1999) 1.67

[Suture of trocar puncture sites after laparoscopy]. Zentralbl Chir (1997) 1.66

Evidence for linkage of spelling disability to chromosome 15. Am J Hum Genet (1998) 1.65

Prednisone in Duchenne muscular dystrophy. Lancet (1974) 1.65

A growth arrest-specific (gas) gene codes for a membrane protein. Mol Cell Biol (1990) 1.64

Performance of panel-based criteria to evaluate the appropriateness of colonoscopy: a prospective study. Gastrointest Endosc (1998) 1.64

Autoimmune human T lymphocytes specific for acetylcholine receptor. Nature (1984) 1.63

Oesophageal and gastric motility disorders in patients categorised as having primary anorexia nervosa. Gut (1986) 1.63

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice. Nat Genet (1995) 1.60

Isolation and characterization of an oligodendrocyte precursor-derived B-cell epitope in multiple sclerosis. Ann Neurol (1998) 1.60

Early abnormalities of evoked potentials and future disability in patients with multiple sclerosis. Mult Scler (2006) 1.60

Dismantling cell-cell contacts during apoptosis is coupled to a caspase-dependent proteolytic cleavage of beta-catenin. J Cell Biol (1997) 1.60

Cell death of human polymorphonuclear neutrophils induced by a Pseudomonas aeruginosa cystic fibrosis isolate requires a functional type III secretion system. Infect Immun (1999) 1.57

Congenital heart disease is a feature of severe infantile spinal muscular atrophy. J Med Genet (2008) 1.57

Polyomavirus large T antigen binds independently to multiple, unique regions on the viral genome. J Virol (1983) 1.55

Casein kinase II-mediated phosphorylation of the C terminus of Sp1 decreases its DNA binding activity. J Biol Chem (1997) 1.55

Gas6 anti-apoptotic signaling requires NF-kappa B activation. J Biol Chem (2001) 1.53

Myasthenia gravis: long-term correlation of binding and bungarotoxin blocking antibodies against acetylcholine receptors with changes in disease severity. Neurology (1983) 1.53

Early natural course of transient encephalopathy after coronary artery bypass grafting. Crit Care Med (2000) 1.52

The dup(3q) syndrome: report of eight cases and review of the literature. Am J Med Genet (1981) 1.52