AAAAAA

   
Results: 1-15 |
Results: 15
OPHTHALMOLOGIC FINDINGS IN LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY CAUSED BY THE G1528C MUTATION - A NEW-TYPE OF HEREDITARY METABOLIC CHORIORETINOPATHY
Authors: TYNI T KIVELA T LAPPI M SUMMANEN P NIKOSKELAINEN E PIHKO H
Citation: T. Tyni et al., OPHTHALMOLOGIC FINDINGS IN LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY CAUSED BY THE G1528C MUTATION - A NEW-TYPE OF HEREDITARY METABOLIC CHORIORETINOPATHY, Ophthalmology, 105(5), 1998, pp. 810-824
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
EVALUATION OF GLAUCOMA PATIENTS REFERRED TO A UNIVERSITY CLINIC DURING ONE-YEAR
Authors: VUORI ML NIKOSKELAINEN E
Citation: Ml. Vuori et E. Nikoskelainen, EVALUATION OF GLAUCOMA PATIENTS REFERRED TO A UNIVERSITY CLINIC DURING ONE-YEAR, Acta ophthalmologica Scandinavica, 75(6), 1997, pp. 692-694
TISSUE DISTRIBUTION OF THE ND4 11778 MUTATION IN HETEROPLASMIC LINEAGES WITH LEBER HEREDITARY OPTIC NEUROPATHY/
Authors: JUVONEN V NIKOSKELAINEN E LAMMINEN T PENTTINEN M AULA P SAVONTAUS ML
Citation: V. Juvonen et al., TISSUE DISTRIBUTION OF THE ND4 11778 MUTATION IN HETEROPLASMIC LINEAGES WITH LEBER HEREDITARY OPTIC NEUROPATHY/, Human mutation, 9(5), 1997, pp. 412-417
MTDNA HAPLOTYPE ANALYSIS IN FINNISH FAMILIES WITH LEBER HEREDITARY OPTIC NEURORETINOPATHY
Authors: LAMMINEN T HUOPONEN K SISTONEN P JUVONEN V LAHERMO P AULA P NIKOSKELAINEN E SAVONTAUS ML
Citation: T. Lamminen et al., MTDNA HAPLOTYPE ANALYSIS IN FINNISH FAMILIES WITH LEBER HEREDITARY OPTIC NEURORETINOPATHY, European journal of human genetics, 5(5), 1997, pp. 271-279
MUTATIONS IN SUBUNIT-6 OF THE F1F0-ATP SYNTHASE CAUSE 2 ENTIRELY DIFFERENT DISEASES
Authors: MAJANDER A LAMMINEN T JUVONEN V AULA P NIKOSKELAINEN E SAVONTAUS ML WIKSTROM M
Citation: A. Majander et al., MUTATIONS IN SUBUNIT-6 OF THE F1F0-ATP SYNTHASE CAUSE 2 ENTIRELY DIFFERENT DISEASES, FEBS letters, 412(2), 1997, pp. 351-354
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
OPHTHALMOLOGICAL FINDINGS IN LEBER HEREDITARY OPTIC NEUROPATHY, WITH SPECIAL REFERENCE TO THE MTDNA MUTATIONS (VOL 103, PG 504, 1996)
Authors: NIKOSKELAINEN E
Citation: E. Nikoskelainen, OPHTHALMOLOGICAL FINDINGS IN LEBER HEREDITARY OPTIC NEUROPATHY, WITH SPECIAL REFERENCE TO THE MTDNA MUTATIONS (VOL 103, PG 504, 1996), Ophthalmology, 103(7), 1996, pp. 998-998
CATALYTIC ACTIVITY OF COMPLEX-I IN CELL-LINES THAT POSSESS REPLACEMENT MUTATIONS IN THE ND GENES IN LEBERS HEREDITARY OPTIC NEUROPATHY
Authors: MAJANDER A FINEL M SAVONTAUS ML NIKOSKELAINEN E WIKSTROM M
Citation: A. Majander et al., CATALYTIC ACTIVITY OF COMPLEX-I IN CELL-LINES THAT POSSESS REPLACEMENT MUTATIONS IN THE ND GENES IN LEBERS HEREDITARY OPTIC NEUROPATHY, European journal of biochemistry, 239(1), 1996, pp. 201-207
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
A MITOCHONDRIAL MUTATION AT NT-9101 IN THE ATP SYNTHASE-6 GENE ASSOCIATED WITH DEFICIENT OXIDATIVE-PHOSPHORYLATION IN A FAMILY WITH LEBER HEREDITARY OPTIC NEURORETINOPATHY
Authors: LAMMINEN T MAJANDER A JUVONEN V WIKSTROM M AULA P NIKOSKELAINEN E SAVONTAUS ML
Citation: T. Lamminen et al., A MITOCHONDRIAL MUTATION AT NT-9101 IN THE ATP SYNTHASE-6 GENE ASSOCIATED WITH DEFICIENT OXIDATIVE-PHOSPHORYLATION IN A FAMILY WITH LEBER HEREDITARY OPTIC NEURORETINOPATHY, American journal of human genetics, 56(5), 1995, pp. 1238-1240
TIME-RESOLVED FLUOROMETRY IN THE DIAGNOSIS OF LEBER HEREDITARY OPTIC NEURORETINOPATHY
Authors: HUOPONEN K JUVONEN V IITIA A DAHLEN P SIITARI H AULA P NIKOSKELAINEN E SAVONTAUS ML
Citation: K. Huoponen et al., TIME-RESOLVED FLUOROMETRY IN THE DIAGNOSIS OF LEBER HEREDITARY OPTIC NEURORETINOPATHY, Human mutation, 3(1), 1994, pp. 29-36
QUANTIFICATION OF POINT MUTATIONS ASSOCIATED WITH LEBER HEREDITARY OPTIC NEURORETINOPATHY BY SOLID-PHASE MINISEQUENCING
Authors: JUVONEN V HUOPONEN K SYVANEN AC NIKOSKELAINEN E SAVONTAUS ML
Citation: V. Juvonen et al., QUANTIFICATION OF POINT MUTATIONS ASSOCIATED WITH LEBER HEREDITARY OPTIC NEURORETINOPATHY BY SOLID-PHASE MINISEQUENCING, Human genetics, 93(1), 1994, pp. 16-20
THE SPECTRUM OF MITOCHONDRIAL-DNA MUTATIONS IN FAMILIES WITH LEBER HEREDITARY OPTIC NEURORETINOPATHY
Authors: HUOPONEN K LAMMINEN T JUVONEN V AULA P NIKOSKELAINEN E SAVONTAUS ML
Citation: K. Huoponen et al., THE SPECTRUM OF MITOCHONDRIAL-DNA MUTATIONS IN FAMILIES WITH LEBER HEREDITARY OPTIC NEURORETINOPATHY, Human genetics, 92(4), 1993, pp. 379-384
REEVALUATION OF THE LINKAGE OF AN OPTIC ATROPHY SUSCEPTIBILITY GENE TO X-CHROMOSOMAL MARKERS IN FINNISH FAMILIES WITH LEBER HEREDITARY OPTIC NEURORETINOPATHY (LHON)
Authors: JUVONEN V VILKKI J AULA P NIKOSKELAINEN E SAVONTAUS ML
Citation: V. Juvonen et al., REEVALUATION OF THE LINKAGE OF AN OPTIC ATROPHY SUSCEPTIBILITY GENE TO X-CHROMOSOMAL MARKERS IN FINNISH FAMILIES WITH LEBER HEREDITARY OPTIC NEURORETINOPATHY (LHON), American journal of human genetics, 53(1), 1993, pp. 289-292
Risultati: 1-15 |