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Results: 1-24 |
Results: 24
PROXIMAL MYOTONIC MYOPATHY (PROMM) AND OTHER PROXIMAL MYOTONIC SYNDROMES
Authors: MOXLEY RT UDD B RICKER K
Citation: Rt. Moxley et al., PROXIMAL MYOTONIC MYOPATHY (PROMM) AND OTHER PROXIMAL MYOTONIC SYNDROMES, Neuromuscular disorders, 8(7), 1998, pp. 519-520
NEUROPHYSIOLOGICAL DIAGNOSIS OF MYASTHENIA-GRAVIS
Authors: RICKER K
Citation: K. Ricker, NEUROPHYSIOLOGICAL DIAGNOSIS OF MYASTHENIA-GRAVIS, Aktuelle Neurologie, 25, 1998, pp. 33-34
TREATMENT OF ION-CHANNEL DISEASES
Authors: RICKER K
Citation: K. Ricker, TREATMENT OF ION-CHANNEL DISEASES, Aktuelle Neurologie, 24(2), 1997, pp. 90-92
PROXIMAL MYOTONIC MYOPATHY WITH MRI WHITE-MATTER ABNORMALITIES OF THEBRAIN
Authors: HUND E JANSEN O KOCH MC RICKER K FOGEL W NIEDERMAIER N OTTO M KUHN E MEINCK HM
Citation: E. Hund et al., PROXIMAL MYOTONIC MYOPATHY WITH MRI WHITE-MATTER ABNORMALITIES OF THEBRAIN, Neurology, 48(1), 1997, pp. 33-37
HEREDITARY NEUROMYOTONIA - A MOUSE MODEL ASSOCIATED WITH DEFICIENCY OR INCREASED GENE DOSAGE OF THE PMP22 GENE
Authors: TOYKA KV ZIELASEK J RICKER K ADLKOFER K SUTER U
Citation: Kv. Toyka et al., HEREDITARY NEUROMYOTONIA - A MOUSE MODEL ASSOCIATED WITH DEFICIENCY OR INCREASED GENE DOSAGE OF THE PMP22 GENE, Journal of Neurology, Neurosurgery and Psychiatry, 63(6), 1997, pp. 812-813
RECESSIVE SCHWARTZ-JAMPEL SYNDROME (SJS) - CONFIRMATION OF LINKAGE TOCHROMOSOME 1P, EVIDENCE OF GENETIC HOMOGENEITY AND REDUCTION OF THE SJS LOCUS TO A 3-CM INTERVAL
Authors: FONTAINE B NICOLE S TOPALOGLU H BENHAMIDA C BEIGHTON P SPAANS F CANTU JMA BAKOURI S ROMERO N RICKER K BARROSNUNEZ P PONSOT G BENHAMIDA M WEISSENBACH J HENTATI F LEHMANNHORN F
Citation: B. Fontaine et al., RECESSIVE SCHWARTZ-JAMPEL SYNDROME (SJS) - CONFIRMATION OF LINKAGE TOCHROMOSOME 1P, EVIDENCE OF GENETIC HOMOGENEITY AND REDUCTION OF THE SJS LOCUS TO A 3-CM INTERVAL, Human genetics, 98(3), 1996, pp. 380-385
PARAMYOTONIA-CONGENITA WITHOUT PARALYSIS ON EXPOSURE TO COLD - A NOVEL MUTATION IN THE SCN4A GENE (VAL1293ILE)
Authors: KOCH MC BAUMBACH K GEORGE AL RICKER K
Citation: Mc. Koch et al., PARAMYOTONIA-CONGENITA WITHOUT PARALYSIS ON EXPOSURE TO COLD - A NOVEL MUTATION IN THE SCN4A GENE (VAL1293ILE), NeuroReport, 6(15), 1995, pp. 2001-2004
STIFF-MAN-SYNDROME - NEUROPHYSIOLOGICAL FINDINGS IN 8 PATIENTS
Authors: MEINCK HM RICKER K HULSER PJ SOLIMENA M
Citation: Hm. Meinck et al., STIFF-MAN-SYNDROME - NEUROPHYSIOLOGICAL FINDINGS IN 8 PATIENTS, Journal of neurology, 242(3), 1995, pp. 134-142
MUTATION DETECTION IN THE CLCN1 GENE OF PATIENTS WITH MYOTONIA-CONGENITA THOMSEN AND GENERALIZED MYOTONIA BECKER
Authors: KOCH MC MEYERKLEIN C OTTO M RICKER K LORENZ C STEINMEYER K JENTSCH RJ
Citation: Mc. Koch et al., MUTATION DETECTION IN THE CLCN1 GENE OF PATIENTS WITH MYOTONIA-CONGENITA THOMSEN AND GENERALIZED MYOTONIA BECKER, Cytogenetics and cell genetics, 71(1), 1995, pp. 30-30
PROXIMAL MYOTONIC MYOPATHY
Authors: MOXLEY RT RICKER K
Citation: Rt. Moxley et K. Ricker, PROXIMAL MYOTONIC MYOPATHY, Muscle & nerve, 18(5), 1995, pp. 557-558
PROMM - PROXIMAL MYOTONIC MYOPATHY, A NEW MYOTONIC DISORDER
Authors: KOCH MC RICKER K LEHMANNHORN F PONGRATZ D
Citation: Mc. Koch et al., PROMM - PROXIMAL MYOTONIC MYOPATHY, A NEW MYOTONIC DISORDER, Journal of Medical Genetics, 32(2), 1995, pp. 148-148
PROXIMAL MYOTONIC MYOPATHY - CLINICAL-FEATURES OF A MULTISYSTEM DISORDER SIMILAR TO MYOTONIC-DYSTROPHY
Authors: RICKER K KOCH MC LEHMANNHORN F PONGRATZ D SPEICH N REINERS K SCHNEIDER C MOXLEY RT
Citation: K. Ricker et al., PROXIMAL MYOTONIC MYOPATHY - CLINICAL-FEATURES OF A MULTISYSTEM DISORDER SIMILAR TO MYOTONIC-DYSTROPHY, Archives of neurology, 52(1), 1995, pp. 25-31
SPECTRUM OF MUTATIONS IN THE MAJOR HUMAN SKELETAL-MUSCLE CHLORIDE CHANNEL GENE (CLCNUI) LEADING TO MYOTONIA
Authors: MEYERKLEINE C STEINMEYER K RICKER K JENTSCH TJ KOCH MC
Citation: C. Meyerkleine et al., SPECTRUM OF MUTATIONS IN THE MAJOR HUMAN SKELETAL-MUSCLE CHLORIDE CHANNEL GENE (CLCNUI) LEADING TO MYOTONIA, American journal of human genetics, 57(6), 1995, pp. 1325-1334
A RECURRENT 14-BP DELETION IN THE CLCN1 GENE ASSOCIATED WITH GENERALIZED MYOTONIA (BECKER)
Authors: MEYERKLEINE C RICKER K OTTO M KOCH MC
Citation: C. Meyerkleine et al., A RECURRENT 14-BP DELETION IN THE CLCN1 GENE ASSOCIATED WITH GENERALIZED MYOTONIA (BECKER), Human molecular genetics, 3(6), 1994, pp. 1015-1016
STIFF MAN SYNDROME - CLINICAL AND LABORATORY FINDINGS IN 8 PATIENTS
Authors: MEINCK HM RICKER K HULSER PJ SCHMID E PEIFFER J SOLIMENA M
Citation: Hm. Meinck et al., STIFF MAN SYNDROME - CLINICAL AND LABORATORY FINDINGS IN 8 PATIENTS, Journal of neurology, 241(3), 1994, pp. 157-166
MAPPING AND CHARACTERIZATION OF THE GENE FOR HUMAN MYOTONIA
Authors: KOCH MC STEINMEYER K OTTO M LORENZ C MEYERKLEINE C RICKER K JENTSCH TJ
Citation: Mc. Koch et al., MAPPING AND CHARACTERIZATION OF THE GENE FOR HUMAN MYOTONIA, Cytogenetics and cell genetics, 65(1-2), 1994, pp. 71-71
PROXIMAL MYOTONIC MYOPATHY - A NEW DOMINANT DISORDER WITH MYOTONIA, MUSCLE WEAKNESS, AND CATARACTS
Authors: RICKER K KOCH MC LEHMANNHORN F PONGRATZ D OTTO M HEINE R MOXLEY RT
Citation: K. Ricker et al., PROXIMAL MYOTONIC MYOPATHY - A NEW DOMINANT DISORDER WITH MYOTONIA, MUSCLE WEAKNESS, AND CATARACTS, Neurology, 44(8), 1994, pp. 1448-1452
FAMILIES WITH MYOTONIC-DYSTROPHY SHOWING NO CTG REPEAT EXPANSION OF THE MYOTONIC-DYSTROPHY ALLELE
Authors: MOXLEY RT RICKER K KOCH M HEINE R LEHMANNHORN F
Citation: Rt. Moxley et al., FAMILIES WITH MYOTONIC-DYSTROPHY SHOWING NO CTG REPEAT EXPANSION OF THE MYOTONIC-DYSTROPHY ALLELE, Neurology, 44(4), 1994, pp. 10000268-10000268
A RIPPLING MUSCLE DISEASE GENE IS LOCALIZED TO 1Q41 - EVIDENCE FOR MULTIPLE GENES
Authors: STEPHEN DA BUIST NRM CHITTENDEN AB RICKER K ZHOU J HOFFMAN EP
Citation: Da. Stephen et al., A RIPPLING MUSCLE DISEASE GENE IS LOCALIZED TO 1Q41 - EVIDENCE FOR MULTIPLE GENES, Neurology, 44(10), 1994, pp. 1915-1920
MYOTONIA-FLUCTUANS - A 3RD TYPE OF MUSCLE SODIUM-CHANNEL-DISEASE
Authors: RICKER K MOXLEY RT HEINE R LEHMANNHORN F
Citation: K. Ricker et al., MYOTONIA-FLUCTUANS - A 3RD TYPE OF MUSCLE SODIUM-CHANNEL-DISEASE, Archives of neurology, 51(11), 1994, pp. 1095-1102
HUMAN SODIUM-CHANNEL MYOTONIA - SLOWED CHANNEL INACTIVATION DUE TO SUBSTITUTIONS FOR A GLYCINE WITHIN THE III-IV LINKER
Authors: LERCHE H HEINE R PIKA U GEORGE AL MITROVIC N BROWATZKI M WEISS T RIVETBASTIDE M FRANKE C LOMONACO M RICKER K LEHMANNHORN F
Citation: H. Lerche et al., HUMAN SODIUM-CHANNEL MYOTONIA - SLOWED CHANNEL INACTIVATION DUE TO SUBSTITUTIONS FOR A GLYCINE WITHIN THE III-IV LINKER, Journal of physiology, 470, 1993, pp. 13-22
EVIDENCE FOR GENETIC HOMOGENEITY IN AUTOSOMAL RECESSIVE GENERALIZED MYOTONIA (BECKER)
Authors: KOCH MC RICKER K OTTO M WOLF F ZOLL B LORENZ C STEINMEYER K JENTSCH TJ
Citation: Mc. Koch et al., EVIDENCE FOR GENETIC HOMOGENEITY IN AUTOSOMAL RECESSIVE GENERALIZED MYOTONIA (BECKER), Journal of Medical Genetics, 30(11), 1993, pp. 914-917
GENOTYPE-PHENOTYPE CORRELATIONS IN HUMAN SKELETAL-MUSCLE SODIUM-CHANNEL DISEASES
Authors: RUDEL R RICKER K LEHMANNHORN F
Citation: R. Rudel et al., GENOTYPE-PHENOTYPE CORRELATIONS IN HUMAN SKELETAL-MUSCLE SODIUM-CHANNEL DISEASES, Archives of neurology, 50(11), 1993, pp. 1241-1248
MOLECULAR-GENETIC AND GENETIC CORRELATIONS IN SODIUM CHANNELOPATHIES - LACK OF FOUNDER EFFECT AND EVIDENCE FOR A 2ND GENE
Authors: WANG J ZHOU J TODOROVIC SM FEERO WG BARANY F CONWIT R HAUSMANOWAPETRUSEWICZ I FIDZIANSKA A ARAHATA K WESSEL HB SILLEN A MARKS HG HARTLAGE P GALLOWAY G RICKER K LEHMANNHORN F HAYAKAWA H HOFFMAN EP
Citation: J. Wang et al., MOLECULAR-GENETIC AND GENETIC CORRELATIONS IN SODIUM CHANNELOPATHIES - LACK OF FOUNDER EFFECT AND EVIDENCE FOR A 2ND GENE, American journal of human genetics, 52(6), 1993, pp. 1074-1084
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