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Results: 1-18 |
Results: 18
CHROMOSOME 2P LINKED AUTOSOMAL-DOMINANT HEREDITARY SPASTIC PARAPARESIS WITH LATE-ONSET DEMENTIA - CLINICAL, GENETIC AND PATHOLOGICAL ASPECTS - EVIDENCE FOR THE EXPRESSION OF AN EXPANDED POLYGLUTAMINE TRACT IN THE SPINAL-CORD
Authors: WHITE KD INCE PJ COOKSON M BASHIR R PERRY RH BATES D BUSHBY KMD SHAW PJ
Citation: Kd. White et al., CHROMOSOME 2P LINKED AUTOSOMAL-DOMINANT HEREDITARY SPASTIC PARAPARESIS WITH LATE-ONSET DEMENTIA - CLINICAL, GENETIC AND PATHOLOGICAL ASPECTS - EVIDENCE FOR THE EXPRESSION OF AN EXPANDED POLYGLUTAMINE TRACT IN THE SPINAL-CORD, Neurology, 50(4), 1998, pp. 31001-31001
ABSENT NAILS, KINESOGENIC CHOREOATHETOSIS, EPILEPSY AND DEVELOPMENTALDELAY - A NEW AUTOSOMAL-DOMINANT DISORDER
Authors: LYNCH SA GARDNERMEDWIN D BURN J BUSHBY KMD
Citation: Sa. Lynch et al., ABSENT NAILS, KINESOGENIC CHOREOATHETOSIS, EPILEPSY AND DEVELOPMENTALDELAY - A NEW AUTOSOMAL-DOMINANT DISORDER, Clinical dysmorphology, 6(2), 1997, pp. 133-138
CONGENITAL EMPHYSEMA, CRYPTORCHIDISM, PENOSCROTAL WEB, DEAFNESS, AND MENTAL-RETARDATION - A NEW SYNDROME
Authors: LYNCH SA BUSHBY KMD
Citation: Sa. Lynch et Kmd. Bushby, CONGENITAL EMPHYSEMA, CRYPTORCHIDISM, PENOSCROTAL WEB, DEAFNESS, AND MENTAL-RETARDATION - A NEW SYNDROME, Clinical dysmorphology, 6(1), 1997, pp. 35-37
ABSENCE OF CALPAIN-3 IN A FORM OF LIMB-GIRDLE MUSCULAR-DYSTROPHY (LGMD2A)
Authors: SPENCER MJ TIDBALL JG ANDERSON LVB BUSHBY KMD HARRIS JB PASSOSBUENO MR SOMER H VAINZOF M ZATZ M
Citation: Mj. Spencer et al., ABSENCE OF CALPAIN-3 IN A FORM OF LIMB-GIRDLE MUSCULAR-DYSTROPHY (LGMD2A), Journal of the neurological sciences, 146(2), 1997, pp. 173-178
LIMB-GIRDLE MUSCULAR-DYSTROPHY OR SPINAL MUSCULAR-ATROPHY - A SOURCE OF DIAGNOSTIC CONFUSION
Authors: POGUE R JACKSON T SAYLI B CURTIS A BUSHBY KMD
Citation: R. Pogue et al., LIMB-GIRDLE MUSCULAR-DYSTROPHY OR SPINAL MUSCULAR-ATROPHY - A SOURCE OF DIAGNOSTIC CONFUSION, Journal of Medical Genetics, 34(11), 1997, pp. 958-959
ADVANCES IN THE MOLECULAR-GENETICS OF THE LIMB-GIRDLE TYPE OF AUTOSOMAL RECESSIVE PROGRESSIVE MUSCULAR-DYSTROPHY
Authors: BECKMANN JS BUSHBY KMD
Citation: Js. Beckmann et Kmd. Bushby, ADVANCES IN THE MOLECULAR-GENETICS OF THE LIMB-GIRDLE TYPE OF AUTOSOMAL RECESSIVE PROGRESSIVE MUSCULAR-DYSTROPHY, Current opinion in neurology, 9(5), 1996, pp. 389-393
THE LIMB-GIRDLE MUSCULAR-DYSTROPHIES - PROPOSAL FOR A NEW NOMENCLATURE - 30TH AND 31ST ENMC INTERNATIONAL WORKSHOPS, NAARDEN, THE NETHERLANDS, HELD 6-8-JANUARY-1995
Authors: BUSHBY KMD BECKMANN JS
Citation: Kmd. Bushby et Js. Beckmann, THE LIMB-GIRDLE MUSCULAR-DYSTROPHIES - PROPOSAL FOR A NEW NOMENCLATURE - 30TH AND 31ST ENMC INTERNATIONAL WORKSHOPS, NAARDEN, THE NETHERLANDS, HELD 6-8-JANUARY-1995, Neuromuscular disorders, 5(4), 1995, pp. 337-343
DIAGNOSTIC-CRITERIA FOR THE LIMB-GIRDLE MUSCULAR-DYSTROPHIES - REPORTOF THE ENMC CONSORTIUM ON LIMB-GIRDLE DYSTROPHIES
Authors: BUSHBY KMD
Citation: Kmd. Bushby, DIAGNOSTIC-CRITERIA FOR THE LIMB-GIRDLE MUSCULAR-DYSTROPHIES - REPORTOF THE ENMC CONSORTIUM ON LIMB-GIRDLE DYSTROPHIES, Neuromuscular disorders, 5(1), 1995, pp. 71-74
DELETION STATUS AND INTELLECTUAL IMPAIRMENT IN DUCHENNE MUSCULAR-DYSTROPHY
Authors: BUSHBY KMD APPLETON R ANDERSON LVB WELCH JL KELLY P GARDNERMEDWIN D
Citation: Kmd. Bushby et al., DELETION STATUS AND INTELLECTUAL IMPAIRMENT IN DUCHENNE MUSCULAR-DYSTROPHY, Developmental Medicine and Child Neurology, 37(3), 1995, pp. 260-269
A GENE FOR AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY MAPS TOCHROMOSOME 2P
Authors: BASHIR R STRACHAN T KEERS S STEPHENSON A MAHJNEH I MARCONI G NASHEF L BUSHBY KMD
Citation: R. Bashir et al., A GENE FOR AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY MAPS TOCHROMOSOME 2P, Human molecular genetics, 3(3), 1994, pp. 455-457
THE MUSCULAR-DYSTROPHIES
Authors: BUSHBY KMD
Citation: Kmd. Bushby, THE MUSCULAR-DYSTROPHIES, Bailliere's clinical neurology, 3(2), 1994, pp. 407-430
BECKER MUSCULAR-DYSTROPHY WITH ONSET AFTER 60 YEARS
Authors: HEALD A ANDERSON LVB BUSHBY KMD SHAW PJ
Citation: A. Heald et al., BECKER MUSCULAR-DYSTROPHY WITH ONSET AFTER 60 YEARS, Neurology, 44(12), 1994, pp. 2388-2390
THE CLINICAL, GENETIC AND DYSTROPHIN CHARACTERISTICS OF BECKER MUSCULAR-DYSTROPHY .1. NATURAL-HISTORY (VOL 240, PG 98, 1993)
Authors: BUSHBY KMD GARDNERMEDWIN D
Citation: Kmd. Bushby et D. Gardnermedwin, THE CLINICAL, GENETIC AND DYSTROPHIN CHARACTERISTICS OF BECKER MUSCULAR-DYSTROPHY .1. NATURAL-HISTORY (VOL 240, PG 98, 1993), Journal of neurology, 240(7), 1993, pp. 453-453
DYSTROPHIN EXPRESSION IN DUCHENNE PATIENTS WITH IN-FRAME GENE DELETIONS
Authors: NICHOLSON LVB BUSHBY KMD JOHNSON MA GARDNERMEDWIN D GINJAAR IB
Citation: Lvb. Nicholson et al., DYSTROPHIN EXPRESSION IN DUCHENNE PATIENTS WITH IN-FRAME GENE DELETIONS, Neuropediatrics, 24(2), 1993, pp. 93-97
INTEGRATED STUDY OF 100 PATIENTS WITH XP21 LINKED MUSCULAR-DYSTROPHY USING CLINICAL, GENETIC, IMMUNOCHEMICAL, AND HISTOPATHOLOGICAL DATA .1. TRENDS ACROSS THE CLINICAL GROUPS
Authors: NICHOLSON LVB JOHNSON MA BUSHBY KMD GARDNERMEDWIN D CURTIS A GINJAAR IB DENDUNNEN JT WELCH JL BUTLER TJ BAKKER E VANOMMEN GJB HARRIS JB
Citation: Lvb. Nicholson et al., INTEGRATED STUDY OF 100 PATIENTS WITH XP21 LINKED MUSCULAR-DYSTROPHY USING CLINICAL, GENETIC, IMMUNOCHEMICAL, AND HISTOPATHOLOGICAL DATA .1. TRENDS ACROSS THE CLINICAL GROUPS, Journal of Medical Genetics, 30(9), 1993, pp. 728-736
INTEGRATED STUDY OF 100 PATIENTS WITH XP21 LINKED MUSCULAR-DYSTROPHY USING CLINICAL, GENETIC, IMMUNOCHEMICAL, AND HISTOPATHOLOGICAL DATA .2. CORRELATIONS WITHIN INDIVIDUAL PATIENTS
Authors: NICHOLSON LVB JOHNSON MA BUSHBY KMD GARDNERMEDWIN D CURTIS A GINJAAR IB DENDUNNEN JT WELCH JL BUTLER TJ BAKKER E VANOMMEN GJB HARRIS JB
Citation: Lvb. Nicholson et al., INTEGRATED STUDY OF 100 PATIENTS WITH XP21 LINKED MUSCULAR-DYSTROPHY USING CLINICAL, GENETIC, IMMUNOCHEMICAL, AND HISTOPATHOLOGICAL DATA .2. CORRELATIONS WITHIN INDIVIDUAL PATIENTS, Journal of Medical Genetics, 30(9), 1993, pp. 737-744
INTEGRATED STUDY OF 100 PATIENTS WITH XP21 LINKED MUSCULAR-DYSTROPHY USING CLINICAL, GENETIC, IMMUNOCHEMICAL, AND HISTOPATHOLOGICAL DATA .3. DIFFERENTIAL-DIAGNOSIS AND PROGNOSIS
Authors: NICHOLSON LVB JOHNSON MA BUSHBY KMD GARDNERMEDWIN D CURTIS A GINJAAR IB DENDUNNEN JT WELCH JL BUTLER TJ BAKKER E VANOMMEN GJB HARRIS JB
Citation: Lvb. Nicholson et al., INTEGRATED STUDY OF 100 PATIENTS WITH XP21 LINKED MUSCULAR-DYSTROPHY USING CLINICAL, GENETIC, IMMUNOCHEMICAL, AND HISTOPATHOLOGICAL DATA .3. DIFFERENTIAL-DIAGNOSIS AND PROGNOSIS, Journal of Medical Genetics, 30(9), 1993, pp. 745-751
FUNCTIONAL-SIGNIFICANCE OF DYSTROPHIN POSITIVE FIBERS IN DUCHENNE MUSCULAR-DYSTROPHY
Authors: NICHOLSON LVB JOHNSON MA BUSHBY KMD GARDNERMEDWIN D
Citation: Lvb. Nicholson et al., FUNCTIONAL-SIGNIFICANCE OF DYSTROPHIN POSITIVE FIBERS IN DUCHENNE MUSCULAR-DYSTROPHY, Archives of Disease in Childhood, 68(5), 1993, pp. 632-636
Risultati: 1-18 |