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Results: 1-20 |
Results: 20
NEURORADIOLOGIC FINDINGS IN CHILDREN WITH MITOCHONDRIAL DISORDERS
Authors: VALANNE L KETONEN L MAJANDER A SUOMALAINEN A PIHKO H
Citation: L. Valanne et al., NEURORADIOLOGIC FINDINGS IN CHILDREN WITH MITOCHONDRIAL DISORDERS, American journal of neuroradiology, 19(2), 1998, pp. 369-377
ASSIGNMENT OF THE DISEASE LOCUS FOR LETHAL CONGENITAL CONTRACTURE SYNDROME TO A RESTRICTED REGION OF CHROMOSOME 9Q34, BY GENOME SCAN USING 5 AFFECTED INDIVIDUALS
Authors: MAKELABENGS P JARVINEN N VUOPALA K SUOMALAINEN A IGNATIUS J SIPILA M HERVA R PALOTIE A PELTONEN L
Citation: P. Makelabengs et al., ASSIGNMENT OF THE DISEASE LOCUS FOR LETHAL CONGENITAL CONTRACTURE SYNDROME TO A RESTRICTED REGION OF CHROMOSOME 9Q34, BY GENOME SCAN USING 5 AFFECTED INDIVIDUALS, American journal of human genetics, 63(2), 1998, pp. 506-516
STEADY-STATE TRANSCRIPT LEVELS OF THE PORPHOBILINOGEN DEAMINASE GENE IN PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA
Authors: MUSTAJOKI S KAUPPINEN R MUSTAJOKI P SUOMALAINEN A PELTONEN L
Citation: S. Mustajoki et al., STEADY-STATE TRANSCRIPT LEVELS OF THE PORPHOBILINOGEN DEAMINASE GENE IN PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA, PCR methods and applications, 7(11), 1997, pp. 1054-1060
TOWARD CLONING OF A NOVEL ATAXIA GENE - REFINED ASSIGNMENT AND PHYSICAL MAP OF THE IOSCA LOCUS (SCA8) ON 10Q24
Authors: NIKALI K ISOSOMPPI J LONNQVIST T MAO JI SUOMALAINEN A PELTONEN L
Citation: K. Nikali et al., TOWARD CLONING OF A NOVEL ATAXIA GENE - REFINED ASSIGNMENT AND PHYSICAL MAP OF THE IOSCA LOCUS (SCA8) ON 10Q24, Genomics, 39(2), 1997, pp. 185-191
MITOCHONDRIAL-DNA AND DISEASE
Authors: SUOMALAINEN A
Citation: A. Suomalainen, MITOCHONDRIAL-DNA AND DISEASE, Annals of medicine, 29(3), 1997, pp. 235-246
AUTOSOMAL-DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MULTIPLEDELETIONS OF MTDNA - CLINICAL, BIOCHEMICAL, AND MOLECULAR-GENETIC FEATURES OF THE 10Q-LINKED DISEASE
Authors: SUOMALAINEN A MAJANDER A WALLIN M SETALA K KONTULA K LEINONEN H SALMI T PAETAU A HALTIA M VALANNE L LONNQVIST J PELTONEN L SOMER H
Citation: A. Suomalainen et al., AUTOSOMAL-DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MULTIPLEDELETIONS OF MTDNA - CLINICAL, BIOCHEMICAL, AND MOLECULAR-GENETIC FEATURES OF THE 10Q-LINKED DISEASE, Neurology, 48(5), 1997, pp. 1244-1253
THE ASSIGNMENT OF THE LETHAL CONGENITAL CONTRACTURE SYNDROME (LCCS) LOCUS TO CHROMOSOME 9Q33-34
Authors: MAKELABENGS P JARVINEN N VUOPALA K SUOMALAINEN A PALOTIE A PELTONEN L
Citation: P. Makelabengs et al., THE ASSIGNMENT OF THE LETHAL CONGENITAL CONTRACTURE SYNDROME (LCCS) LOCUS TO CHROMOSOME 9Q33-34, American journal of human genetics, 61(4), 1997, pp. 151-151
TRACING AN ANCESTRAL MUTATION - GENEALOGICAL AND HAPLOTYPE ANALYSIS OF THE INFANTILE ONSET SPINOCEREBELLAR ATAXIA LOCUS
Authors: VARILO T NIKALI K SUOMALAINEN A LONNQVIST T PELTONEN L
Citation: T. Varilo et al., TRACING AN ANCESTRAL MUTATION - GENEALOGICAL AND HAPLOTYPE ANALYSIS OF THE INFANTILE ONSET SPINOCEREBELLAR ATAXIA LOCUS, PCR methods and applications, 6(9), 1996, pp. 870-875
LAMINAR CORTICAL NECROSIS IN MELAS SYNDROME - MR AND NEUROPATHOLOGICAL OBSERVATIONS
Authors: VALANNE L PAETAU A SUOMALAINEN A KETONEN L PIHKO H
Citation: L. Valanne et al., LAMINAR CORTICAL NECROSIS IN MELAS SYNDROME - MR AND NEUROPATHOLOGICAL OBSERVATIONS, Neuropediatrics, 27(3), 1996, pp. 154-160
AN AUTOSOMAL LOCUS PREDISPOSING TO MULTIPLE DELETIONS OF MTDNA ON CHROMOSOME 3P
Authors: KAUKONEN JA AMATI P SUOMALAINEN A ROTIG A PISCAGLIA MG SALVI F WEISSENBACH J FRATTA G COMI G PELTONEN L ZEVIANI M
Citation: Ja. Kaukonen et al., AN AUTOSOMAL LOCUS PREDISPOSING TO MULTIPLE DELETIONS OF MTDNA ON CHROMOSOME 3P, American journal of human genetics, 58(4), 1996, pp. 763-769
AN AUTOSOMAL LOCUS PREDISPOSING TO DELETIONS OF MITOCHONDRIAL-DNA
Authors: SUOMALAINEN A KAUKONEN J AMATI P TIMONEN R HALTIA M WEISSENBACH J ZEVIANI M SOMER H PELTONEN L
Citation: A. Suomalainen et al., AN AUTOSOMAL LOCUS PREDISPOSING TO DELETIONS OF MITOCHONDRIAL-DNA, Nature genetics, 9(2), 1995, pp. 146-151
THE LETHAL CONGENITAL CONTRACTURE SYNDROME - A MOTONEURON DISEASE OF THE FETUS
Authors: MAKELABENGS P VUOPALA K SUOMALAINEN A PELTONEN L
Citation: P. Makelabengs et al., THE LETHAL CONGENITAL CONTRACTURE SYNDROME - A MOTONEURON DISEASE OF THE FETUS, Journal of cellular biochemistry, 1995, pp. 99-99
GENOTYPE TO PHENOTYPE CORRELATIONS IN MITOCHONDRIAL ENCEPHALOMYOPATHIES ASSOCIATED WITH THE A3243G MUTATION OF MITOCHONDRIAL-DNA
Authors: MARIOTTI C SAVARESE N SUOMALAINEN A RIMOLDI M COMI G PRELLE A ANTOZZI C SERVIDEI S JARRE L DIDONATO S ZEVIANI M
Citation: C. Mariotti et al., GENOTYPE TO PHENOTYPE CORRELATIONS IN MITOCHONDRIAL ENCEPHALOMYOPATHIES ASSOCIATED WITH THE A3243G MUTATION OF MITOCHONDRIAL-DNA, Journal of neurology, 242(5), 1995, pp. 304-312
CORRELATION BETWEEN THE CLINICAL SYMPTOMS AND THE PROPORTION OF MITOCHONDRIAL-DNA CARRYING THE 8993-POINT MUTATION IN THE NARP SYNDROME
Authors: MAKELABENGS P SUOMALAINEN A MAJANDER A RAPOLA J KALIMO H NUUTILA A PIHKO H
Citation: P. Makelabengs et al., CORRELATION BETWEEN THE CLINICAL SYMPTOMS AND THE PROPORTION OF MITOCHONDRIAL-DNA CARRYING THE 8993-POINT MUTATION IN THE NARP SYNDROME, Pediatric research, 37(5), 1995, pp. 634-639
DIAGNOSIS OF FATAL INFANTILE DEFECTS OF THE MITOCHONDRIAL RESPIRATORY-CHAIN - AGE-DEPENDENCE AND POSTMORTEM ANALYSIS OF ENZYME-ACTIVITIES
Authors: MAJANDER A RAPOLA J SARIOLA H SUOMALAINEN A POHJAVUORI M PIHKO H
Citation: A. Majander et al., DIAGNOSIS OF FATAL INFANTILE DEFECTS OF THE MITOCHONDRIAL RESPIRATORY-CHAIN - AGE-DEPENDENCE AND POSTMORTEM ANALYSIS OF ENZYME-ACTIVITIES, Journal of the neurological sciences, 134(1-2), 1995, pp. 95-102
LETHAL CONGENITAL CONTRACTURE SYNDROME (LCCS), A FETAL ANTERIOR HORN CELL DISEASE, IS NOT LINKED TO THE SMA 5Q LOCUS
Authors: VUOPALA K MAKELABENGS P SUOMALAINEN A HERVA R LEISTI J PELTONEN L
Citation: K. Vuopala et al., LETHAL CONGENITAL CONTRACTURE SYNDROME (LCCS), A FETAL ANTERIOR HORN CELL DISEASE, IS NOT LINKED TO THE SMA 5Q LOCUS, Journal of Medical Genetics, 32(1), 1995, pp. 36-38
IDENTIFICATION OF A 2ND AUTOSOMAL LOCUS PREDISPOSING TO MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA
Authors: KAUKONEN J AMATI P SUOMALAINEN A ROTIG A ANTOZZI C SALVI F WEISSENBACH J PELTONEN L ZEVIANI M
Citation: J. Kaukonen et al., IDENTIFICATION OF A 2ND AUTOSOMAL LOCUS PREDISPOSING TO MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA, American journal of human genetics, 57(4), 1995, pp. 1246-1246
RANDOM SEARCH FOR SHARED CHROMOSOMAL REGIONS IN 4 AFFECTED INDIVIDUALS - THE ASSIGNMENT OF A NEW HEREDITARY ATAXIA LOCUS
Authors: NIKALI K SUOMALAINEN A TERWILLIGER J KOSKINEN T WEISSENBACH J PELTONEN L
Citation: K. Nikali et al., RANDOM SEARCH FOR SHARED CHROMOSOMAL REGIONS IN 4 AFFECTED INDIVIDUALS - THE ASSIGNMENT OF A NEW HEREDITARY ATAXIA LOCUS, American journal of human genetics, 56(5), 1995, pp. 1088-1095
INFANTILE ONSET SPINOCEREBELLAR ATAXIA REPRESENTS AN ALLELIC DISEASE DISTINCT FROM OTHER HEREDITARY ATAXIAS
Authors: NIKALI K KOSKINEN T SUOMALAINEN A PIHKO H PELTONEN L
Citation: K. Nikali et al., INFANTILE ONSET SPINOCEREBELLAR ATAXIA REPRESENTS AN ALLELIC DISEASE DISTINCT FROM OTHER HEREDITARY ATAXIAS, Pediatric research, 36(5), 1994, pp. 607-612
QUANTIFICATION OF TRANSFER RNA(3243)(LEU) POINT MUTATION OF MITOCHONDRIAL-DNA IN MELAS PATIENTS AND ITS EFFECTS ON MITOCHONDRIAL TRANSCRIPTION
Authors: SUOMALAINEN A MAJANDER A PIHKO H PELTONEN L SYVANEN AC
Citation: A. Suomalainen et al., QUANTIFICATION OF TRANSFER RNA(3243)(LEU) POINT MUTATION OF MITOCHONDRIAL-DNA IN MELAS PATIENTS AND ITS EFFECTS ON MITOCHONDRIAL TRANSCRIPTION, Human molecular genetics, 2(5), 1993, pp. 525-534
Risultati: 1-20 |