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Results: 1-20 |
Results: 20
MUTATIONS IN THE PALMITOYL-PROTEIN THIOESTERASE GENE (PPT, CLN1) CAUSING JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS (VOL 7, PG 291, 1998)
Authors: MITCHISON HN HOFMANN SL BECERRA CHR MUNROE PB LAKE BD CROW YJ STEPHENSON JBP WILLIAMS RE HOFMAN IL TASCHNER PEM MARTIN JJ PHILIPPART M ANDERMANN E ANDERMANN F MOLE SE GARDINER RM ORAWE AM
Citation: Hn. Mitchison et al., MUTATIONS IN THE PALMITOYL-PROTEIN THIOESTERASE GENE (PPT, CLN1) CAUSING JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS (VOL 7, PG 291, 1998), Human molecular genetics, 7(4), 1998, pp. 765-765
MUTATIONS IN THE PALMITOYL-PROTEIN THIOESTERASE GENE (PPT, CLN1) CAUSING JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS
Authors: MITCHISON HM HOFMANN SL BECERRA CHR MUNROE PB LAKE BD CROW YJ STEPHENSON JBP WILLIAMS RE HOFMAN IL TASCHNER PEM MARTIN JJ PHILIPPART M ANDERMANN E ANDERMANN F MOLE SE GARDINER RM ORAWE AM
Citation: Hm. Mitchison et al., MUTATIONS IN THE PALMITOYL-PROTEIN THIOESTERASE GENE (PPT, CLN1) CAUSING JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS, Human molecular genetics, 7(2), 1998, pp. 291-297
SHARING OF PPT MUTATIONS BETWEEN DISTINCT CLINICAL FORMS OF NEURONAL CEROID-LIPOFUSCINOSES IN PATIENTS FROM SCOTLAND
Authors: MUNROE PB GREENE NDE LEUNG KY MOLE SE GARDINER RM MITCHISON HM STEPHENSON JBP CROW YJ
Citation: Pb. Munroe et al., SHARING OF PPT MUTATIONS BETWEEN DISTINCT CLINICAL FORMS OF NEURONAL CEROID-LIPOFUSCINOSES IN PATIENTS FROM SCOTLAND, Journal of Medical Genetics, 35(9), 1998, pp. 790-790
CATAPLEXY AND MUSCLE ULTRASOUND ABNORMALITIES IN COFFIN-LOWRY-SYNDROME
Authors: CROW YJ ZUBERI SM MCWILLIAM R TOLMIE JL HOLLMAN A POHL K STEPHENSON JBP
Citation: Yj. Crow et al., CATAPLEXY AND MUSCLE ULTRASOUND ABNORMALITIES IN COFFIN-LOWRY-SYNDROME, Journal of Medical Genetics, 35(2), 1998, pp. 94-98
HYPERAMMONEMIC ENCEPHALOPATHY AFTER A SUBURETERIC INJECTION FOR VESICOURETERAL REFLUX
Authors: ZUBERI SM STEPHENSON JBP AZMY AF ROBINSON PH MCWILLIAM RC
Citation: Sm. Zuberi et al., HYPERAMMONEMIC ENCEPHALOPATHY AFTER A SUBURETERIC INJECTION FOR VESICOURETERAL REFLUX, Archives of Disease in Childhood, 79(4), 1998, pp. 363-364
AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY - GENETIC-HETEROGENEITY AND EVIDENCE FOR A 2ND LOCUS AT 15Q24
Authors: PHILLIPS HA SCHEFFER IE CROSSLAND KM BHATIA KP FISH DR MARSDEN CD HOWELL SJL STEPHENSON JBP TOLMIE J PLAZZI G EEGOLOFSSON O SINGH R LOPESCENDES I ANDERMANN E ANDERMANN F BERKOVIC SF MULLEY JC
Citation: Ha. Phillips et al., AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY - GENETIC-HETEROGENEITY AND EVIDENCE FOR A 2ND LOCUS AT 15Q24, American journal of human genetics, 63(4), 1998, pp. 1108-1116
BATTEN-DISEASE IN THE WEST OF SCOTLAND 1974-1995 INCLUDING 5 CASES OFTHE JUVENILE FORM WITH GRANULAR OSMIOPHILIC DEPOSITS
Authors: CROW YJ TOLMIE JL HOWATSON AG PATRICK WJA STEPHENSON JBP
Citation: Yj. Crow et al., BATTEN-DISEASE IN THE WEST OF SCOTLAND 1974-1995 INCLUDING 5 CASES OFTHE JUVENILE FORM WITH GRANULAR OSMIOPHILIC DEPOSITS, Neuropediatrics, 28(3), 1997, pp. 140-144
GENETIC-LINKAGE ANALYSIS OF A VARIANT OF JUVENILE-ONSET NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS
Authors: ORAWE A MITCHISON HM WILLIAMS R WHEELER R ANDERMANN E ANDERMANN F HART YM MARTIN JJ PHILIPPART M STEPHENSON JBP GARDINER RM MOLE SE
Citation: A. Orawe et al., GENETIC-LINKAGE ANALYSIS OF A VARIANT OF JUVENILE-ONSET NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS, Neuropediatrics, 28(1), 1997, pp. 21-22
A NOVEL PATTERN OF OCULOCEREBRAL MALFORMATION
Authors: CLARK BJ LEE WR DOYLE D ARNGRIMSSON R TOLMIE JL STEPHENSON JBP
Citation: Bj. Clark et al., A NOVEL PATTERN OF OCULOCEREBRAL MALFORMATION, British journal of ophthalmology, 81(6), 1997, pp. 470-475
HYPERVENTILATION SYNDROME
Authors: AHMED M WITHANA K STEPHENSON JBP
Citation: M. Ahmed et al., HYPERVENTILATION SYNDROME, Lancet, 348(9029), 1996, pp. 750-750
FAMILIAL HEMIPLEGIC MIGRAINE IN THE WEST OF SCOTLAND - A CLINICAL ANDGENETIC-STUDY OF 7 FAMILIES
Authors: AHMED MAS REID E COOKE A ARNGRIMSSON R TOLMIE JL STEPHENSON JBP
Citation: Mas. Ahmed et al., FAMILIAL HEMIPLEGIC MIGRAINE IN THE WEST OF SCOTLAND - A CLINICAL ANDGENETIC-STUDY OF 7 FAMILIES, Journal of Neurology, Neurosurgery and Psychiatry, 61(6), 1996, pp. 616-620
X-LINKED HYDROCEPHALUS MASQUERADING AS SPINA-BIFIDA AND DESTRUCTIVE PORENCEPHALY IN SUCCESSIVE GENERATIONS IN ONE FAMILY
Authors: BREWER CM FREDERICKS BJ PONT JMW STEPHENSON JBP TOLMIE JL
Citation: Cm. Brewer et al., X-LINKED HYDROCEPHALUS MASQUERADING AS SPINA-BIFIDA AND DESTRUCTIVE PORENCEPHALY IN SUCCESSIVE GENERATIONS IN ONE FAMILY, Developmental Medicine and Child Neurology, 38(7), 1996, pp. 632-636
X-LINKED HYDROCEPHALUS MASQUERADING AS SPINA-BIFIDA AND DESTRUCTIVE PORENCEPHALY IN SUCCESSIVE GENERATIONS IN ONE FAMILY
Authors: BREWER CM FREDERICKS BJ PONT JMW STEPHENSON JBP TOLMIE JL
Citation: Cm. Brewer et al., X-LINKED HYDROCEPHALUS MASQUERADING AS SPINA-BIFIDA AND DESTRUCTIVE PORENCEPHALY IN SUCCESSIVE GENERATIONS IN ONE FAMILY, Developmental Medicine and Child Neurology, 38(4), 1996, pp. 359-363
THE CHANGING CLINICAL-PATTERN OF REYES-SYNDROME 1982-1990
Authors: HARDIE RM NEWTON LH BRUCE JC GLASGOW JFT MOWAT AP STEPHENSON JBP HALL SM
Citation: Rm. Hardie et al., THE CHANGING CLINICAL-PATTERN OF REYES-SYNDROME 1982-1990, Archives of Disease in Childhood, 74(5), 1996, pp. 400-405
THE AICARDI-GOUTIERES SYNDROME (FAMILIAL, EARLY-ONSET ENCEPHALOPATHY WITH CALCIFICATIONS OF THE BASAL GANGLIA AND CHRONIC CEREBROSPINAL-FLUID LYMPHOCYTOSIS)
Authors: TOLMIE JL SHILLITO P HUGHESBENZIE R STEPHENSON JBP
Citation: Jl. Tolmie et al., THE AICARDI-GOUTIERES SYNDROME (FAMILIAL, EARLY-ONSET ENCEPHALOPATHY WITH CALCIFICATIONS OF THE BASAL GANGLIA AND CHRONIC CEREBROSPINAL-FLUID LYMPHOCYTOSIS), Journal of Medical Genetics, 32(11), 1995, pp. 881-884
SERIAL SPASMS AS AN EPILEPTIC AROUSAL DISORDER
Authors: STEPHENSON JBP
Citation: Jbp. Stephenson, SERIAL SPASMS AS AN EPILEPTIC AROUSAL DISORDER, Epilepsia, 36, 1995, pp. 202-202
VIDEO SURVEILLANCE IN DIAGNOSIS OF INTENTIONAL SUFFOCATION
Authors: STEPHENSON JBP
Citation: Jbp. Stephenson, VIDEO SURVEILLANCE IN DIAGNOSIS OF INTENTIONAL SUFFOCATION, Lancet, 344(8919), 1994, pp. 414-415
COMPARISON OF THE RELATIVE LEVELS OF THE 3243 (A-]G) MTDNA MUTATION IN HETEROPLASMIC ADULT AND FETAL TISSUES
Authors: MATTHEWS PM HOPKIN J BROWN RM STEPHENSON JBP HILTONJONES D BROWN GK
Citation: Pm. Matthews et al., COMPARISON OF THE RELATIVE LEVELS OF THE 3243 (A-]G) MTDNA MUTATION IN HETEROPLASMIC ADULT AND FETAL TISSUES, Journal of Medical Genetics, 31(1), 1994, pp. 41-44
DIAGNOSIS IN PRADER-WILLI-SYNDROME
Authors: CHU CE COOKE A STEPHENSON JBP TOLMIE JL CLARKE B PARRYJONES WL CONNOR JM DONALDSON MDC
Citation: Ce. Chu et al., DIAGNOSIS IN PRADER-WILLI-SYNDROME, Archives of Disease in Childhood, 71(5), 1994, pp. 441-442
THE PRADER-WILLI-SYNDROME
Authors: DONALDSON MDC CHU CE COOKE A WILSON A GREENE SA STEPHENSON JBP
Citation: Mdc. Donaldson et al., THE PRADER-WILLI-SYNDROME, Archives of Disease in Childhood, 70(1), 1994, pp. 58-63
Risultati: 1-20 |