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Results: 1-16 |
Results: 16
A NEW MITOCHONDRIAL TRNA(MET) GENE MUTATION IN A PATIENT WITH DYSTROPHIC MUSCLE AND EXERCISE INTOLERANCE
Authors: VISSING J SALAMON MB ARLIENSOBORG P NORBY S MANTA P DIMAURO S SCHMALBRUCH H
Citation: J. Vissing et al., A NEW MITOCHONDRIAL TRNA(MET) GENE MUTATION IN A PATIENT WITH DYSTROPHIC MUSCLE AND EXERCISE INTOLERANCE, Neurology, 50(6), 1998, pp. 1875-1878
REPLY TO HOFMANN ET-AL
Authors: MACKEY D OOSTRA RJ ROSENBERG T NIKOSKELAINEN E POULTON J BARRATT T BOLHUIS P NORBY S SAVONTAUS ML CHAN C HOWELL N
Citation: D. Mackey et al., REPLY TO HOFMANN ET-AL, American journal of human genetics, 62(2), 1998, pp. 492-495
QUANTIFICATION, BY SOLID-PHASE MINISEQUENCING, OF THE TELOMERIC AND CENTROMERIC COPIES OF THE SURVIVAL MOTOR-NEURON GENE IN FAMILIES WITH SPINAL MUSCULAR-ATROPHY
Authors: SCHWARTZ M SORENSEN N HANSEN FJ HERTZ JM NORBY S TRANEBJAERG L SKOVBY F
Citation: M. Schwartz et al., QUANTIFICATION, BY SOLID-PHASE MINISEQUENCING, OF THE TELOMERIC AND CENTROMERIC COPIES OF THE SURVIVAL MOTOR-NEURON GENE IN FAMILIES WITH SPINAL MUSCULAR-ATROPHY, Human molecular genetics, 6(1), 1997, pp. 99-104
A SPECTRUM OF MUTATIONS IN THE 2ND GENE FOR AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (PKD2)
Authors: VELDHUISEN B SARIS JJ DEHAIJ S HAYASHI T REYNOLDS DM MOCHIZUKI T ELLES R FOSSDAL R BOGDANOVA N VANDIJK MA COTO E RAVINE D NORBY S VERELLENDUMOULIN C BREUNING MH SOMLO S PETERS DJM
Citation: B. Veldhuisen et al., A SPECTRUM OF MUTATIONS IN THE 2ND GENE FOR AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (PKD2), American journal of human genetics, 61(3), 1997, pp. 547-555
GENETIC-HETEROGENEITY OF MIGRAINE WITH AND WITHOUT AURA IN DANES CANNOT BE EXPLAINED BY MUTATION IN MTDNA NUCLEOTIDE PAIR-11084
Authors: RUSSELL MB DIAMANT M NORBY S
Citation: Mb. Russell et al., GENETIC-HETEROGENEITY OF MIGRAINE WITH AND WITHOUT AURA IN DANES CANNOT BE EXPLAINED BY MUTATION IN MTDNA NUCLEOTIDE PAIR-11084, Acta neurologica Scandinavica, 96(3), 1997, pp. 171-173
OCULAR MYOPATHY AND MITOCHONDRIAL-DNA DELETION - A PRESENTATION OF 7 NEWLY IDENTIFIED DANISH PATIENTS
Authors: MAGALHAES PJ SJO O NORBY S
Citation: Pj. Magalhaes et al., OCULAR MYOPATHY AND MITOCHONDRIAL-DNA DELETION - A PRESENTATION OF 7 NEWLY IDENTIFIED DANISH PATIENTS, Acta ophthalmologica Scandinavica, 74, 1996, pp. 29-32
PRIMARY PATHOGENIC MTDNA MUTATIONS IN MULTIGENERATION PEDIGREES WITH LEBER HEREDITARY OPTIC NEUROPATHY
Authors: MACKEY DA OOSTRA RJ ROSENBERG T NIKOSKELAINEN E BRONTESTEWART J POULTON J HARDING AE GOVAN G BOLHUIS PA NORBY S BLEEKERWAGEMAKERS EM SAVONTAUS ML CHAN C HOWELL N
Citation: Da. Mackey et al., PRIMARY PATHOGENIC MTDNA MUTATIONS IN MULTIGENERATION PEDIGREES WITH LEBER HEREDITARY OPTIC NEUROPATHY, American journal of human genetics, 59(2), 1996, pp. 481-485
LEBER HEREDITARY OPTIC NEUROPATHY - IMPLICATIONS OF THE SEX-RATIO FORLINKAGE STUDIES IN FAMILIES WITH THE 3460 ND1 MUTATION
Authors: BLACK GCM CRAIG IW OOSTRA RJ NORBY S ROSENBERG T MORTEN K LABORDE A POULTON J
Citation: Gcm. Black et al., LEBER HEREDITARY OPTIC NEUROPATHY - IMPLICATIONS OF THE SEX-RATIO FORLINKAGE STUDIES IN FAMILIES WITH THE 3460 ND1 MUTATION, Eye, 9, 1995, pp. 513-516
LEBERS HEREDITARY OPTIC NEUROPATHY ASSOCIATED WITH A DISORDER INDISTINGUISHABLE FROM MULTIPLE-SCLEROSIS IN A MALE HARBORING THE MITOCHONDRIAL-DNA 11778-MUTATION
Authors: OLSEN NK HANSEN AW NORBY S EDAL AL JORGENSEN JR ROSENBERG T
Citation: Nk. Olsen et al., LEBERS HEREDITARY OPTIC NEUROPATHY ASSOCIATED WITH A DISORDER INDISTINGUISHABLE FROM MULTIPLE-SCLEROSIS IN A MALE HARBORING THE MITOCHONDRIAL-DNA 11778-MUTATION, Acta neurologica Scandinavica, 91(5), 1995, pp. 326-329
OPTING FOR SILENCE
Authors: NORBY S
Citation: S. Norby, OPTING FOR SILENCE, Nature, 372(6504), 1994, pp. 312-312
GENETIC DYET
Authors: NORBY S
Citation: S. Norby, GENETIC DYET, Nature, 370(6487), 1994, pp. 255-255
JUVENILE KEARNS-SAYRE SYNDROME INITIALLY MISDIAGNOSED AS A PSYCHOSOMATIC DISORDER
Authors: NORBY S LESTIENNE P NELSON I NIELSEN IM SCHMALBRUCH H SJO O WARBURG M
Citation: S. Norby et al., JUVENILE KEARNS-SAYRE SYNDROME INITIALLY MISDIAGNOSED AS A PSYCHOSOMATIC DISORDER, Journal of Medical Genetics, 31(1), 1994, pp. 45-50
A NEW HUMAN MESSENGER TRANSFER DNA POLYMORPHISM - TRANSFER RNA(GLN) 4336 (T-]C)/
Authors: LEROY D NORBY S
Citation: D. Leroy et S. Norby, A NEW HUMAN MESSENGER TRANSFER DNA POLYMORPHISM - TRANSFER RNA(GLN) 4336 (T-]C)/, Clinical genetics, 45(2), 1994, pp. 109-110
CHROMOSOME 4 LOCALIZATION OF A 2ND GENE FOR AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE
Authors: PETERS DJM SPRUIT L SARIS JJ RAVINE D SANDKUIJL LA FOSSDAL R BOERSMA J VANEIJK R NORBY S CONSTANTINOUDELTAS CD PIERIDES A BRISSENDEN JE FRANTS RR VANOMMEN GJB BREUNING MH
Citation: Djm. Peters et al., CHROMOSOME 4 LOCALIZATION OF A 2ND GENE FOR AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE, Nature genetics, 5(4), 1993, pp. 359-362
SCREENING FOR THE 2 MOST FREQUENT MUTATIONS IN LEBER HEREDITARY OPTICNEUROPATHY BY DUPLEX PCR BASED ON ALLELE-SPECIFIC AMPLIFICATION
Authors: NORBY S
Citation: S. Norby, SCREENING FOR THE 2 MOST FREQUENT MUTATIONS IN LEBER HEREDITARY OPTICNEUROPATHY BY DUPLEX PCR BASED ON ALLELE-SPECIFIC AMPLIFICATION, Human mutation, 2(4), 1993, pp. 309-313
MUTATION-SPECIFIC PCR - A RAPID AND INEXPENSIVE DIAGNOSTIC METHOD, ASEXEMPLIFIED BY MITOCHONDRIAL-DNA ANALYSIS IN LEBERS HEREDITARY OPTIC NEUROPATHY
Authors: NORBY S
Citation: S. Norby, MUTATION-SPECIFIC PCR - A RAPID AND INEXPENSIVE DIAGNOSTIC METHOD, ASEXEMPLIFIED BY MITOCHONDRIAL-DNA ANALYSIS IN LEBERS HEREDITARY OPTIC NEUROPATHY, DNA and cell biology, 12(6), 1993, pp. 549-552
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