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Results: 1-16 |
Results: 16
SPECTRUM OF MUTATIONS IN FINNISH PATIENTS WITH CHARCOT-MARIE-TOOTH-DISEASE AND RELATED NEUROPATHIES
Authors: SILANDER K MERETOJA P JUVONEN V IGNATIUS J PIHKO H SAARINEN A WALLDEN T HERRGARD E AULA P SAVONTAUS ML
Citation: K. Silander et al., SPECTRUM OF MUTATIONS IN FINNISH PATIENTS WITH CHARCOT-MARIE-TOOTH-DISEASE AND RELATED NEUROPATHIES, Human mutation, 12(1), 1998, pp. 59-68
HIGH PREVALENCE OF KENNEDYS-DISEASE IN WESTERN FINLAND - IS THE SYNDROME UNDERDIAGNOSED
Authors: UDD B JUVONEN V HAKAMIES L NIEMINEN A WALLGRENPETTERSSON C CEDERQUIST K SAVONTAUS ML
Citation: B. Udd et al., HIGH PREVALENCE OF KENNEDYS-DISEASE IN WESTERN FINLAND - IS THE SYNDROME UNDERDIAGNOSED, Acta neurologica Scandinavica, 98(2), 1998, pp. 128-133
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
SCREENING FOR CONNEXIN-32 MUTATIONS IN CHARCOT-MARIE-TOOTH-DISEASE FAMILIES WITH POSSIBLE X-LINKED INHERITANCE
Authors: SILANDER K MERETOJA P PIHKO H JUVONEN V ISSAKAINEN J AULA P SAVONTAUS ML
Citation: K. Silander et al., SCREENING FOR CONNEXIN-32 MUTATIONS IN CHARCOT-MARIE-TOOTH-DISEASE FAMILIES WITH POSSIBLE X-LINKED INHERITANCE, Human genetics, 100(3-4), 1997, pp. 391-397
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
OPHTHALMOLOGIC FINDINGS IN LEBER HEREDITARY OPTIC NEUROPATHY, WITH SPECIAL REFERENCE TO MTDNA MUTATIONS
Authors: NIKOSKELAINEN EK HUOPONEN K JUVONEN V LAMMINEN T NUMMELIN K SAVONTAUS ML
Citation: Ek. Nikoskelainen et al., OPHTHALMOLOGIC FINDINGS IN LEBER HEREDITARY OPTIC NEUROPATHY, WITH SPECIAL REFERENCE TO MTDNA MUTATIONS, Ophthalmology, 103(3), 1996, pp. 504-514
MEIOTIC DRIVE AND MYOTONIC-DYSTROPHY - REPLY
Authors: CAREY N JOHNSON K NOKELAINEN P PELTONEN L SAVONTAUS ML JUVONEN V ANVRET M GRANDELL U CHOTAI K ROBERTSON E MIDDLETONPRICE H MALCOLM S
Citation: N. Carey et al., MEIOTIC DRIVE AND MYOTONIC-DYSTROPHY - REPLY, Nature genetics, 10(2), 1995, pp. 133-133
LEBERS PLUS - NEUROLOGICAL ABNORMALITIES IN PATIENTS WITH LEBERS HEREDITARY OPTIC NEUROPATHY
Authors: NIKOSKELAINEN EK MARTTILA RJ HUOPONEN K JUVONEN V LAMMINEN T SONNINEN P SAVONTAUS ML
Citation: Ek. Nikoskelainen et al., LEBERS PLUS - NEUROLOGICAL ABNORMALITIES IN PATIENTS WITH LEBERS HEREDITARY OPTIC NEUROPATHY, Journal of Neurology, Neurosurgery and Psychiatry, 59(2), 1995, pp. 160-164
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
MEIOTIC DRIVE AT THE MYOTONIC-DYSTROPHY LOCUS
Authors: CAREY N JOHNSON K NOKELAINEN P PELTONEN L SAVONTAUS ML JUVONEN V ANVRET M GRANDELL U CHOTAI K ROBERTSON E MIDDLETONPRICE H MALCOLM S
Citation: N. Carey et al., MEIOTIC DRIVE AT THE MYOTONIC-DYSTROPHY LOCUS, Nature genetics, 6(2), 1994, pp. 117-118
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
TYPICAL AND ATYPICAL FINDINGS IN LEBER HEREDITARY OPTIC NEUROPATHY
Authors: NIKOSKELAINEN EK HUOPONEN K JUVONEN V LAMMINEN T SAVONTAUS ML
Citation: Ek. Nikoskelainen et al., TYPICAL AND ATYPICAL FINDINGS IN LEBER HEREDITARY OPTIC NEUROPATHY, Investigative ophthalmology & visual science, 35(4), 1994, pp. 1984-1984
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
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