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Results: 1-25 | 26-46
Results: 1-25/46
SEQUENCING OF THE ALPHA-SYNUCLEIN GENE IN A LARGE SERIES OF CASES OF FAMILIAL PARKINSONS-DISEASE FAILS TO REVEAL ANY FURTHER MUTATIONS
Authors: VAUGHAN JR FARRER MJ WSZOLEK ZK GASSER T DURR A AGID Y BONIFATI V DEMICHELE G VOLPE G LINCOLN S BRETELER M MECO G BRICE A MARSDEN CD HARDY J WOOD NW
Citation: Jr. Vaughan et al., SEQUENCING OF THE ALPHA-SYNUCLEIN GENE IN A LARGE SERIES OF CASES OF FAMILIAL PARKINSONS-DISEASE FAILS TO REVEAL ANY FURTHER MUTATIONS, Human molecular genetics, 7(4), 1998, pp. 751-753
GENETIC-ASPECTS OF PARKINSONS-DISEASE
Authors: BANDMANN O MARSDEN CD WOOD NW
Citation: O. Bandmann et al., GENETIC-ASPECTS OF PARKINSONS-DISEASE, Movement disorders, 13(2), 1998, pp. 203-211
GENERALIZED CHOREA IN 2 PATIENTS HARBORING THE FRIEDREICHS ATAXIA GENE TRINUCLEOTIDE REPEAT EXPANSION
Authors: HANNA MG DAVIS MB SWEENEY MG NOURSADEGHI M ELLIS CJ ELLIOT P WOOD NW MARSDEN CD
Citation: Mg. Hanna et al., GENERALIZED CHOREA IN 2 PATIENTS HARBORING THE FRIEDREICHS ATAXIA GENE TRINUCLEOTIDE REPEAT EXPANSION, Movement disorders, 13(2), 1998, pp. 339-340
DOPA-RESPONSIVE DYSTONIA - A CLINICAL AND MOLECULAR-GENETIC STUDY
Authors: BANDMANN O VALENTE EM HOLMANS P SURTEES RAH WALTERS JH WEVERS RA MARSDEN CD WOOD NW
Citation: O. Bandmann et al., DOPA-RESPONSIVE DYSTONIA - A CLINICAL AND MOLECULAR-GENETIC STUDY, Annals of neurology, 44(4), 1998, pp. 649-656
GENETIC RISK-FACTORS IN PARKINSONS-DISEASE
Authors: WOOD NW
Citation: Nw. Wood, GENETIC RISK-FACTORS IN PARKINSONS-DISEASE, Annals of neurology, 44(3), 1998, pp. 58-62
THE ALPHA-SYNUCLEIN ALA53THR MUTATION IS NOT A COMMON-CAUSE OF FAMILIAL PARKINSONS-DISEASE - A STUDY OF 230 EUROPEAN CASES
Authors: VAUGHAN J DURR A TASSIN J BEREZNAI B GASSER T BONIFATI V DEMICHELE G FABRIZIO E VOLPE G BANDMANN O JOHNSON WG GOLBE LI BRETELER M MECO G AGID Y BRICE A MARSDEN CD WOOD NW
Citation: J. Vaughan et al., THE ALPHA-SYNUCLEIN ALA53THR MUTATION IS NOT A COMMON-CAUSE OF FAMILIAL PARKINSONS-DISEASE - A STUDY OF 230 EUROPEAN CASES, Annals of neurology, 44(2), 1998, pp. 270-273
DEJERINE-SOTTAS NEUROPATHY AND PMP22 POINT MUTATIONS - A NEW BASE-PAIR SUBSTITUTION AND A POSSIBLE HOT-SPOT ON SER72
Authors: MARQUES W THOMAS PK SWEENEY MG CARR L WOOD NW
Citation: W. Marques et al., DEJERINE-SOTTAS NEUROPATHY AND PMP22 POINT MUTATIONS - A NEW BASE-PAIR SUBSTITUTION AND A POSSIBLE HOT-SPOT ON SER72, Annals of neurology, 43(5), 1998, pp. 680-683
HOMOZYGOUS DELETIONS IN PARKIN GENE IN EUROPEAN AND NORTH-AFRICAN FAMILIES WITH AUTOSOMAL RECESSIVE JUVENILE PARKINSONISM
Authors: LUCKING CB ABBAS N DURR A BONIFATI V BONNET AM DEBROUCKER T DEMICHELE G WOOD NW AGID Y BRICE A
Citation: Cb. Lucking et al., HOMOZYGOUS DELETIONS IN PARKIN GENE IN EUROPEAN AND NORTH-AFRICAN FAMILIES WITH AUTOSOMAL RECESSIVE JUVENILE PARKINSONISM, Lancet, 352(9137), 1998, pp. 1355-1356
ACETYLATOR GENOTYPE AND PARKINSONS-DISEASE - REPLY
Authors: BANDMANN O WOOD NW
Citation: O. Bandmann et Nw. Wood, ACETYLATOR GENOTYPE AND PARKINSONS-DISEASE - REPLY, Lancet, 351(9096), 1998, pp. 142-142
A LARGE BRITISH KINDRED WITH AUTOSOMAL-DOMINANT PARKINSONS-DISEASE
Authors: NICHOLL DJ VAUGHAN JR ALDOUS DEW PICCINI P DANIEL SE BROOKS DJ WOOD NW WILLIAMS AC
Citation: Dj. Nicholl et al., A LARGE BRITISH KINDRED WITH AUTOSOMAL-DOMINANT PARKINSONS-DISEASE, Neurology, 50(4), 1998, pp. 20006-20006
EFFECTS OF INTRAVENOUS METHYLPREDNISOLONE ON OUTCOME IN MRI-BASED PROGNOSTIC SUBGROUPS IN ACUTE OPTIC NEURITIS
Authors: KAPOOR R MILLER DH JONES SJ PLANT GT BRUSA A GASS A HAWKINS CP PAGE R WOOD NW COMPSTON DAS MOSELEY IF MCDONALD WI
Citation: R. Kapoor et al., EFFECTS OF INTRAVENOUS METHYLPREDNISOLONE ON OUTCOME IN MRI-BASED PROGNOSTIC SUBGROUPS IN ACUTE OPTIC NEURITIS, Neurology, 50(1), 1998, pp. 230-237
MELAS - A NEW DISEASE-ASSOCIATED MITOCHONDRIAL-DNA MUTATION AND EVIDENCE FOR FURTHER GENETIC-HETEROGENEITY
Authors: HANNA MG NELSON IP MORGANHUGHES JA WOOD NW
Citation: Mg. Hanna et al., MELAS - A NEW DISEASE-ASSOCIATED MITOCHONDRIAL-DNA MUTATION AND EVIDENCE FOR FURTHER GENETIC-HETEROGENEITY, Journal of Neurology, Neurosurgery and Psychiatry, 65(4), 1998, pp. 512-517
SALBUTAMOL TREATMENT IN A PATIENT WITH HYPERKALEMIC PERIODIC PARALYSIS DUE TO A MUTATION IN THE SKELETAL-MUSCLE SODIUM-CHANNEL GENE (SCN4A)
Authors: HANNA MG STEWART J SCHAPIRA AHV WOOD NW MORGANHUGHES JA MURRAY NMF
Citation: Mg. Hanna et al., SALBUTAMOL TREATMENT IN A PATIENT WITH HYPERKALEMIC PERIODIC PARALYSIS DUE TO A MUTATION IN THE SKELETAL-MUSCLE SODIUM-CHANNEL GENE (SCN4A), Journal of Neurology, Neurosurgery and Psychiatry, 65(2), 1998, pp. 248-250
THE ROLE OF THE SCA2 TRINUCLEOTIDE REPEAT EXPANSION IN 89 AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA FAMILIES - FREQUENCY, CLINICAL AND GENETIC CORRELATES
Authors: GIUNTI P SABBADINI G SWEENEY MG DAVIS MB VENEZIANO L MANTUANO E FEDERICO A PLASMATI R FRONTALI M WOOD NW
Citation: P. Giunti et al., THE ROLE OF THE SCA2 TRINUCLEOTIDE REPEAT EXPANSION IN 89 AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA FAMILIES - FREQUENCY, CLINICAL AND GENETIC CORRELATES, Brain, 121, 1998, pp. 459-467
CLINICAL AND LABORATORY FINDINGS IN REFERRALS FOR MITOCHONDRIAL-DNA ANALYSIS
Authors: LAMONT PJ SURTEES R WOODWARD CE LEONARD JV WOOD NW HARDING AE
Citation: Pj. Lamont et al., CLINICAL AND LABORATORY FINDINGS IN REFERRALS FOR MITOCHONDRIAL-DNA ANALYSIS, Archives of Disease in Childhood, 79(1), 1998, pp. 22-27
DIAGNOSING FRIEDREICH-ATAXIA
Authors: WOOD NW
Citation: Nw. Wood, DIAGNOSING FRIEDREICH-ATAXIA, Archives of Disease in Childhood, 78(3), 1998, pp. 204-207
CYTOCHROME-C-OXIDASE DEFICIENCY ASSOCIATED WITH THE FIRST STOP-CODON POINT MUTATION IN HUMAN MTDNA
Authors: HANNA MG NELSON IP RAHMAN S LANE RJM LAND J HEALES S COOPER MJ SCHAPIRA AHV MORGANHUGHES JA WOOD NW
Citation: Mg. Hanna et al., CYTOCHROME-C-OXIDASE DEFICIENCY ASSOCIATED WITH THE FIRST STOP-CODON POINT MUTATION IN HUMAN MTDNA, American journal of human genetics, 63(1), 1998, pp. 29-36
PROGRESSIVE COGNITIVE DECLINE WITH TRUNCAL LIMB ATAXIA AND BALLISTIC MOVEMENTS/
Authors: KOMPOLITI K PAPPERT EJ GOETZ CG FORD B WOOD NW
Citation: K. Kompoliti et al., PROGRESSIVE COGNITIVE DECLINE WITH TRUNCAL LIMB ATAXIA AND BALLISTIC MOVEMENTS/, Movement disorders, 12(6), 1997, pp. 1075-1084
DEPLETION OF MITOCHONDRIAL-DNA BY DDC IN UNTRANSFORMED HUMAN CELL-LINES
Authors: NELSON I HANNA MG WOOD NW HARDING AE
Citation: I. Nelson et al., DEPLETION OF MITOCHONDRIAL-DNA BY DDC IN UNTRANSFORMED HUMAN CELL-LINES, Somatic cell and molecular genetics, 23(4), 1997, pp. 287-290
IN-VIVO SKELETAL-MUSCLE MITOCHONDRIAL-FUNCTION IN LEBERS HEREDITARY OPTIC NEUROPATHY ASSESSED BY P-31 MAGNETIC-RESONANCE SPECTROSCOPY
Authors: LODI R TAYLOR DJ TABRIZI SJ KUMAR S SWEENEY M WOOD NW STYLES P RADDA GK SCHAPIRA AHV
Citation: R. Lodi et al., IN-VIVO SKELETAL-MUSCLE MITOCHONDRIAL-FUNCTION IN LEBERS HEREDITARY OPTIC NEUROPATHY ASSESSED BY P-31 MAGNETIC-RESONANCE SPECTROSCOPY, Annals of neurology, 42(4), 1997, pp. 573-579
CYTOCHROME-C-OXIDASE DEFICIENCY ASSOCIATED WITH A NEW STOP CODON MUTATION IN MITOCHONDRIAL-DNA
Authors: HANNA MG NELSON IP RAHMAN S SCHAPIRA AHV MORGANHUGHES JA WOOD NW
Citation: Mg. Hanna et al., CYTOCHROME-C-OXIDASE DEFICIENCY ASSOCIATED WITH A NEW STOP CODON MUTATION IN MITOCHONDRIAL-DNA, Annals of neurology, 42(3), 1997, pp. 79-79
MITOCHONDRIAL-DNA POLYMORPHISMS IN PATHOLOGICALLY PROVEN PARKINSONS-DISEASE
Authors: BANDMANN O SWEENEY MG DANIEL SE MARSDEN CD WOOD NW
Citation: O. Bandmann et al., MITOCHONDRIAL-DNA POLYMORPHISMS IN PATHOLOGICALLY PROVEN PARKINSONS-DISEASE, Journal of neurology, 244(4), 1997, pp. 262-265
ASSOCIATION OF SLOW ACETYLATOR GENOTYPE FOR N-ACETYLTRANSFERASE-2 WITH FAMILIAL PARKINSONS-DISEASE
Authors: BANDMANN O VAUGHAN J HOLMANS P MARSDEN CD WOOD NW
Citation: O. Bandmann et al., ASSOCIATION OF SLOW ACETYLATOR GENOTYPE FOR N-ACETYLTRANSFERASE-2 WITH FAMILIAL PARKINSONS-DISEASE, Lancet, 350(9085), 1997, pp. 1136-1139
MULTIPLE-SYSTEM ATROPHY IS GENETICALLY DISTINCT FROM IDENTIFIED INHERITED CAUSES OF SPINOCEREBELLAR DEGENERATION
Authors: BANDMANN O SWEENEY MG DANIEL SE WENNING GK QUINN N MARSDEN CD WOOD NW
Citation: O. Bandmann et al., MULTIPLE-SYSTEM ATROPHY IS GENETICALLY DISTINCT FROM IDENTIFIED INHERITED CAUSES OF SPINOCEREBELLAR DEGENERATION, Neurology, 49(6), 1997, pp. 1598-1604
EVALUATION OF 4 CANDIDATE GENES ENCODING PROTEINS OF THE DOPAMINE PATHWAY IN FAMILIAL AND SPORADIC PARKINSONS-DISEASE - EVIDENCE FOR ASSOCIATION OF A DRD2-ALLELE
Authors: PLANTEBORDENEUVE V TAUSSIG D THOMAS F SAID G WOOD NW MARSDEN CD HARDING AE
Citation: V. Plantebordeneuve et al., EVALUATION OF 4 CANDIDATE GENES ENCODING PROTEINS OF THE DOPAMINE PATHWAY IN FAMILIAL AND SPORADIC PARKINSONS-DISEASE - EVIDENCE FOR ASSOCIATION OF A DRD2-ALLELE, Neurology, 48(6), 1997, pp. 1589-1593
Risultati: 1-25 | 26-46