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Results: 1-25 | 26-31
Results: 1-25/31
THE PLACE OF MIGRAINE AS A CHANNELOPATHY
Authors: PTACEK LJ
Citation: Lj. Ptacek, THE PLACE OF MIGRAINE AS A CHANNELOPATHY, Current opinion in neurology, 11(3), 1998, pp. 217-226
ANALYSIS OF THE DYNAMIC MUTATION IN THE SCA7 GENE SHOWS MARKED PARENTAL EFFECTS ON CAG REPEAT TRANSMISSION
Authors: GOUW LG CASTANEDA MA MCKENNA CK DIGRE KB PULST SM PERLMAN S LEE MS GOMEZ C FISCHBECK K GAGNON D STOREY E BIRD T JERI FR PTACEK LJ
Citation: Lg. Gouw et al., ANALYSIS OF THE DYNAMIC MUTATION IN THE SCA7 GENE SHOWS MARKED PARENTAL EFFECTS ON CAG REPEAT TRANSMISSION, Human molecular genetics, 7(3), 1998, pp. 525-532
AUTOSOMAL-DOMINANT CEREBRAL ARTERIOPATHY - NEUROPSYCHIATRIC SYNDROME IN A FAMILY
Authors: ADAIR JC HART BL KORNFELD M GRAHAM GD SWANDA RM PTACEK LJ DAVIS LE
Citation: Jc. Adair et al., AUTOSOMAL-DOMINANT CEREBRAL ARTERIOPATHY - NEUROPSYCHIATRIC SYNDROME IN A FAMILY, Neuropsychiatry, neuropsychology, and behavioral neurology, 11(1), 1998, pp. 31-39
GENETIC-MAPPING OF A LOCUS (MASS1) CAUSING AUDIOGENIC-SEIZURES IN MICE
Authors: SKRADSKI SL WHITE HS PTACEK LJ
Citation: Sl. Skradski et al., GENETIC-MAPPING OF A LOCUS (MASS1) CAUSING AUDIOGENIC-SEIZURES IN MICE, Genomics, 49(2), 1998, pp. 188-192
LOCALIZATION OF THE GIANT AXONAL NEUROPATHY GENE TO CHROMOSOME 16Q24
Authors: FLANIGAN KM CRAWFORD TO GRIFFIN JW GOEBEL HH KOHLSCHUTTER A RANELLS J CAMFIELD PR PTACEK LJ
Citation: Km. Flanigan et al., LOCALIZATION OF THE GIANT AXONAL NEUROPATHY GENE TO CHROMOSOME 16Q24, Annals of neurology, 43(1), 1998, pp. 143-148
CLONING OF THE HUMAN HOMOLOG OF VOLTAGE-GATED POTASSIUM CHANNEL KV5.1
Authors: CHEN J PTACEK LJ
Citation: J. Chen et Lj. Ptacek, CLONING OF THE HUMAN HOMOLOG OF VOLTAGE-GATED POTASSIUM CHANNEL KV5.1, Biophysical journal, 74(2), 1998, pp. 206-206
CHANNELOPATHIES - ION-CHANNEL DISORDERS OF MUSCLE AS A PARADIGM FOR PAROXYSMAL DISORDERS OF THE NERVOUS-SYSTEM
Authors: PTACEK LJ
Citation: Lj. Ptacek, CHANNELOPATHIES - ION-CHANNEL DISORDERS OF MUSCLE AS A PARADIGM FOR PAROXYSMAL DISORDERS OF THE NERVOUS-SYSTEM, Neuromuscular disorders, 7(4), 1997, pp. 250-255
GENOTYPE-PHENOTYPE CORRELATIONS OF DHP RECEPTOR ALPHA(1)-SUBUNIT GENE-MUTATIONS CAUSING HYPOKALEMIC PERIODIC PARALYSIS
Authors: FOUAD G DALAKAS M SERVIDEI S MENDELL JR VANDENBERGH P ANGELINI C ALDERSON K GRIGGS RC TAWIL R GREGG R HOGAN K POWERS PA WEINBERG N MALONEE W PTACEK LJ
Citation: G. Fouad et al., GENOTYPE-PHENOTYPE CORRELATIONS OF DHP RECEPTOR ALPHA(1)-SUBUNIT GENE-MUTATIONS CAUSING HYPOKALEMIC PERIODIC PARALYSIS, Neuromuscular disorders, 7(1), 1997, pp. 33-38
ANDERSENS-SYNDROME - A DISTINCT PERIODIC PARALYSIS
Authors: SANSONE V GRIGGS RC MEOLA G PTACEK LJ BAROHN R IANNACCONE S BRYAN W BAKER N JANAS SJ SCOTT W RIRIE D TAWIL R
Citation: V. Sansone et al., ANDERSENS-SYNDROME - A DISTINCT PERIODIC PARALYSIS, Annals of neurology, 42(3), 1997, pp. 305-312
A NEW LOCUS FOR HEMIPLEGIC MIGRAINE MAPS TO CHROMOSOME 1Q31
Authors: GARDNER K BARMADA MM PTACEK LJ HOFFMAN EP
Citation: K. Gardner et al., A NEW LOCUS FOR HEMIPLEGIC MIGRAINE MAPS TO CHROMOSOME 1Q31, Neurology, 49(5), 1997, pp. 1231-1238
HEREDITARY NEUROPSYCHIATRIC SYNDROME SECONDARY TO FAMILIAL VASCULAR LEUKOENCEPHALOPATHY (FVL)
Authors: ADAIR JC GRAHAM GD HART BL KORNFELD M PTACEK LJ DAVIS LE
Citation: Jc. Adair et al., HEREDITARY NEUROPSYCHIATRIC SYNDROME SECONDARY TO FAMILIAL VASCULAR LEUKOENCEPHALOPATHY (FVL), Neurology, 48(3), 1997, pp. 2024-2024
GENOMIC STRUCTURE OF ANION-EXCHANGER-3 AND ITS MUTATIONAL ANALYSIS ASA CANDIDATE GENE FOR FAMILIAR PAROXYSMAL DYSKINESIA
Authors: EINUM DD ZHANG J ARNESON PJ MENON A PTACEK LJ
Citation: Dd. Einum et al., GENOMIC STRUCTURE OF ANION-EXCHANGER-3 AND ITS MUTATIONAL ANALYSIS ASA CANDIDATE GENE FOR FAMILIAR PAROXYSMAL DYSKINESIA, American journal of human genetics, 61(4), 1997, pp. 974-974
AN EXPANDED CAG REPEAT SEQUENCE IN SPINOCEREBELLAR ATAXIA TYPE-7
Authors: LINDBLAD K SAVONTAUS ML STEVANIN G HOLMBERG M DIGRE K ZANDER C EHRSSON H DAVID G BENOMAR A NIKOSKELAINEN E TROTTIER Y HOLMGREN G PTACEK LJ ANTTINEN A BRICE A SCHALLING M
Citation: K. Lindblad et al., AN EXPANDED CAG REPEAT SEQUENCE IN SPINOCEREBELLAR ATAXIA TYPE-7, PCR methods and applications, 6(10), 1996, pp. 965-971
GIANT AXONAL NEUROPATHY - A GENOME-WIDE GENETIC SEARCH
Authors: FIANIGAN KM PTACEK LJ GRIFFIN J CRAWFORD T
Citation: Km. Fianigan et al., GIANT AXONAL NEUROPATHY - A GENOME-WIDE GENETIC SEARCH, Brain pathology, 6(3), 1996, pp. 350-350
MUTATIONS IN THE HUMAN SKELETAL-MUSCLE CHLORIDE CHANNEL GENE (CLCN1) ASSOCIATED WITH DOMINANT AND RECESSIVE MYOTONIA-CONGENITA
Authors: ZHANG J GEORGE AL GRIGGS RC FOUAD GT ROBERTS J KWIECINSKI H CONNOLLY AM PTACEK LJ
Citation: J. Zhang et al., MUTATIONS IN THE HUMAN SKELETAL-MUSCLE CHLORIDE CHANNEL GENE (CLCN1) ASSOCIATED WITH DOMINANT AND RECESSIVE MYOTONIA-CONGENITA, Neurology, 47(4), 1996, pp. 993-998
AUTOSOMAL-DOMINANT SPINOCEREBELLAR ATAXIA WITH SENSORY AXONAL NEUROPATHY (SCA4) - CLINICAL DESCRIPTION AND GENETIC LOCALIZATION TO CHROMOSOME 16Q22.1
Authors: FLANIGAN K GARDNER K ALDERSON K GALSTER B OTTERUD B LEPPERT MF KAPLAN C PTACEK LJ
Citation: K. Flanigan et al., AUTOSOMAL-DOMINANT SPINOCEREBELLAR ATAXIA WITH SENSORY AXONAL NEUROPATHY (SCA4) - CLINICAL DESCRIPTION AND GENETIC LOCALIZATION TO CHROMOSOME 16Q22.1, American journal of human genetics, 59(2), 1996, pp. 392-399
A GENE FOR FAMILIAL PAROXYSMAL DYSKINESIA (FPD1) MAPS TO CHROMOSOME 2Q
Authors: FOUAD GT SERVIDEI S DURCAN S BERTINI E PTACEK LJ
Citation: Gt. Fouad et al., A GENE FOR FAMILIAL PAROXYSMAL DYSKINESIA (FPD1) MAPS TO CHROMOSOME 2Q, American journal of human genetics, 59(1), 1996, pp. 135-139
AUTOSOMAL-DOMINANT SPINOCEREBELLAR ATROPHY WITH RETINAL DEGENERATION
Authors: PTACEK LJ
Citation: Lj. Ptacek, AUTOSOMAL-DOMINANT SPINOCEREBELLAR ATROPHY WITH RETINAL DEGENERATION, Clinical neuroscience, 3(1), 1995, pp. 28-32
RETINAL DEGENERATION CHARACTERIZES A SPINOCEREBELLAR ATAXIA MAPPING TO CHROMOSOME 3P
Authors: GOUW LG KAPLAN CD HAINES JH DIGRE KB RUTLEDGE SL MATILLA A LEPPERT M ZOGHBI HY PTACEK LJ
Citation: Lg. Gouw et al., RETINAL DEGENERATION CHARACTERIZES A SPINOCEREBELLAR ATAXIA MAPPING TO CHROMOSOME 3P, Nature genetics, 10(1), 1995, pp. 89-93
MUTATION IN THE S4 SEGMENT OF THE ADULT SKELETAL SODIUM-CHANNEL GENE IN AN ITALIAN PARAMYOTONIA-CONGENITA (PC) FAMILY
Authors: SANSONE V ROTONDO G PTACEK LJ MEOLA G
Citation: V. Sansone et al., MUTATION IN THE S4 SEGMENT OF THE ADULT SKELETAL SODIUM-CHANNEL GENE IN AN ITALIAN PARAMYOTONIA-CONGENITA (PC) FAMILY, Italian journal of neurological sciences, 15(9), 1994, pp. 473-480
ANDERSENS-SYNDROME - OR KLEIN-LISAK-ANDERSEN SYNDROME - REPLY
Authors: TAWIL R PTACEK LJ PAVLAKIS SG DEVIVO DC PENN AS OZDEMIR C GRIGGS RC
Citation: R. Tawil et al., ANDERSENS-SYNDROME - OR KLEIN-LISAK-ANDERSEN SYNDROME - REPLY, Annals of neurology, 36(2), 1994, pp. 253-253
GENETIC-ANALYSIS OF HYPOKALEMIC PERIODIC PARALYSIS
Authors: PTACEK LJ GRIGGS RC TAWIL R LAYZER R DALAKAS M KWIECINSKI H
Citation: Lj. Ptacek et al., GENETIC-ANALYSIS OF HYPOKALEMIC PERIODIC PARALYSIS, Annals of neurology, 36(2), 1994, pp. 284-284
ANDERSENS-SYNDROME - POTASSIUM-SENSITIVE PERIODIC PARALYSIS, VENTRICULAR ECTOPY, AND DYSMORPHIC FEATURES
Authors: TAWIL R PTACEK LJ PAVLAKIS SG DEVIVO DC PENN AS OZDEMIR C GRIGGS RC
Citation: R. Tawil et al., ANDERSENS-SYNDROME - POTASSIUM-SENSITIVE PERIODIC PARALYSIS, VENTRICULAR ECTOPY, AND DYSMORPHIC FEATURES, Annals of neurology, 35(3), 1994, pp. 326-330
PARAMYOTONIA-CONGENITA - ABNORMAL SHORT EXERCISE TEST, AND IMPROVEMENT AFTER MEXILETINE THERAPY
Authors: JACKSON CE BAROHN RJ PTACEK LJ
Citation: Ce. Jackson et al., PARAMYOTONIA-CONGENITA - ABNORMAL SHORT EXERCISE TEST, AND IMPROVEMENT AFTER MEXILETINE THERAPY, Muscle & nerve, 17(7), 1994, pp. 763-768
DIHYDROPYRIDINE RECEPTOR MUTATIONS CAUSE HYPOKALEMIC PERIODIC PARALYSIS
Authors: PTACEK LJ TAWIL R GRIGGS RC ENGEL AG LAYZER RB KWIECINSKI H MCMANIS PG SANTIAGO L MOORE M FOUAD G BRADLEY P LEPPERT MF
Citation: Lj. Ptacek et al., DIHYDROPYRIDINE RECEPTOR MUTATIONS CAUSE HYPOKALEMIC PERIODIC PARALYSIS, Cell, 77(6), 1994, pp. 863-868
Risultati: 1-25 | 26-31