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المؤلفون: Anu Suomalainen, Juha O. Rinne, Anders Paetau, Petri Luoma, Jyri J. Virta, Maria Rantamäki, Bjarne Udd
المصدر: Clinical Genetics. 72:532-537
مصطلحات موضوعية: Adult, Male, Heterozygote, medicine.medical_specialty, Mitochondrial Diseases, Ataxia, Mitochondrial disease, Genes, Recessive, DNA-Directed DNA Polymerase, Neurological disorder, Biology, Compound heterozygosity, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Degenerative disease, Internal medicine, Genetics, medicine, Humans, Finland, Genetics (clinical), Aged, 030304 developmental biology, Subclinical infection, Aged, 80 and over, 0303 health sciences, Heterozygote advantage, Syndrome, Middle Aged, medicine.disease, Magnetic Resonance Imaging, DNA Polymerase gamma, Pedigree, 3. Good health, Phenotype, Amino Acid Substitution, Positron-Emission Tomography, Spinocerebellar ataxia, Heredodegenerative Disorders, Nervous System, Female, medicine.symptom, 030217 neurology & neurosurgery
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المؤلفون: Peter Hackman, Helena Kääriäinen, Teppo Varilo, Laurence A. Bindoff, Ann Löfgren, Petri Luoma, Anu Suomalainen, Seppo Kaakkola, Gert Van Goethem, Kari Majamaa, Silja Heiskanen, Bjarne Udd, Anders Paetau, Ilse Lappalainen, Maria Rantamäki, Vesa Juvonen, Anna H. Hakonen
المصدر: The American journal of human genetics
مصطلحات موضوعية: Adult, Gait Ataxia, Male, Mitochondrial DNA, Ataxia, Molecular Sequence Data, Population, Mutation, Missense, Genes, Recessive, DNA-Directed DNA Polymerase, Biology, medicine.disease_cause, Evolution, Molecular, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Genetics, medicine, Humans, Genetics(clinical), Genetic Testing, Cloning, Molecular, Allele, education, Allele frequency, Finland, Genetics (clinical), DNA Primers, 030304 developmental biology, Genetic testing, 0303 health sciences, education.field_of_study, Mutation, Base Sequence, medicine.diagnostic_test, Haplotype, Sequence Analysis, DNA, Articles, Middle Aged, DNA Polymerase gamma, 3. Good health, Haplotypes, Female, Human medicine, medicine.symptom, 030217 neurology & neurosurgery
وصف الملف: pdf
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المؤلفون: Rita Horváth, Anu Suomalainen, Ningguang Luo, Laurie S. Kaguni, Julia Wanschitz, Stefan Kiechl, Carol L. Farr, Petri Luoma, Wolfgang Löscher
المصدر: Human Molecular Genetics. 14:1907-1920
مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Ataxia, Molecular Sequence Data, Population, DNA-Directed DNA Polymerase, Biology, medicine.disease_cause, Human mitochondrial genetics, 03 medical and health sciences, 0302 clinical medicine, Muscular Diseases, Genotype, Genetics, medicine, Animals, Humans, Amino Acid Sequence, Allele, education, Molecular Biology, Genetics (clinical), Aged, DNA Primers, 030304 developmental biology, 0303 health sciences, Mutation, education.field_of_study, Base Sequence, Sequence Homology, Amino Acid, Cerebellar ataxia, Syndrome, General Medicine, Middle Aged, Mitochondria, Pedigree, 3. Good health, Microscopy, Electron, Electrophoresis, Polyacrylamide Gel, Female, medicine.symptom, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d4fc9153760fb48bcf853f624d9556f
https://doi.org/10.1093/hmg/ddi196 -
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المؤلفون: Petra Ijas, Petri Luoma, Jani Saksi, Jarno Tuimala, Krista Nuotio, Lauri Soinne, Matti Jauhiainen, Markku Kaste, Petri T Kovanen, Perttu J Lindsberg
المصدر: Stroke. 43
مصطلحات موضوعية: Advanced and Specialized Nursing, Neurology (clinical), Cardiology and Cardiovascular Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a1ac3be072497aa9b5c68903989231a6
https://doi.org/10.1161/str.43.suppl_1.a2646 -
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المؤلفون: Pentti J. Tienari, Andrew B. Singleton, Petri Luoma, Sonja W. Scholz, Anu Suomalainen, Coro Paisán-Ruiz, Terhi Peuralinna, J. Eerola
مصطلحات موضوعية: Adult, Male, Linkage disequilibrium, Glutamine, DNA-Directed DNA Polymerase, Biology, Article, White People, 03 medical and health sciences, 0302 clinical medicine, Mitochondrial myopathy, Trinucleotide Repeats, Genetic predisposition, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Allele, Genetic Association Studies, 030304 developmental biology, Aged, Genetics, Aged, 80 and over, 0303 health sciences, General Neuroscience, Case-control study, Parkinson Disease, Polyglutamine tract, Middle Aged, medicine.disease, 3. Good health, DNA Polymerase gamma, Case-Control Studies, Female, Trinucleotide repeat expansion, Peptides, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a373ecfe257265c42a61fba9f9fcf76
https://europepmc.org/articles/PMC2905783/ -
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المؤلفون: J. Eerola, O. Hellström, Kari T. Kivistö, Pentti J. Tienari, Anna H. Hakonen, Petri Luoma, Sofia Ahola, Anu Suomalainen
المصدر: Neurology. 69(11)
مصطلحات موضوعية: Adult, Genetic Markers, Male, Mitochondrial DNA, Mitochondrial Diseases, Genotype, Population, DNA Mutational Analysis, DNA-Directed DNA Polymerase, Biology, DNA, Mitochondrial, Central nervous system disease, 03 medical and health sciences, Open Reading Frames, 0302 clinical medicine, Degenerative disease, Mitochondrial myopathy, medicine, Coding region, Humans, Genetic Predisposition to Disease, Genetic Testing, education, 030304 developmental biology, Aged, Genetics, Aged, 80 and over, 0303 health sciences, education.field_of_study, Polymorphism, Genetic, Parkinsonism, Parkinson Disease, Polyglutamine tract, Middle Aged, medicine.disease, 3. Good health, DNA Polymerase gamma, Immunology, Female, Neurology (clinical), Peptides, Trinucleotide Repeat Expansion, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::196e2b002c194f9e50fb53d161558dbf
https://pubmed.ncbi.nlm.nih.gov/17846414 -
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المؤلفون: A Al Memar, Anu Suomalainen, Petri Luoma, Maria Rantamäki, Seppo Kaakkola, G. Van Goethem, Peter Hackman, C. Van Broeckhoven, Bjarne Udd, J.J. Martin, Ann Löfgren, Ralf Krahe, P. De Jonghe
المصدر: Neurology
مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Pathology, medicine.medical_specialty, Ophthalmoplegia, Chronic Progressive External, Ataxia, Adolescent, Mitochondrial disease, Mutation, Missense, DNA-Directed DNA Polymerase, Biology, Compound heterozygosity, DNA, Mitochondrial, 03 medical and health sciences, 0302 clinical medicine, Sensory ataxia, medicine, Humans, Point Mutation, Cognitive decline, Myopathy, 030304 developmental biology, Aged, 0303 health sciences, Muscles, Brain, Neurodegenerative Diseases, Middle Aged, medicine.disease, 3. Good health, DNA Polymerase gamma, Pedigree, Mutation, Female, Neurology (clinical), medicine.symptom, Myoclonus, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0466d777cdf7eed2ac2d0d108ed72d44
https://pubmed.ncbi.nlm.nih.gov/15477547 -
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المؤلفون: Ilkka Rautakorpi, Leena Peltonen, Nina N. Nupponen, Anu Suomalainen, Juha O. Rinne, Hannu Somer, Atle Melberg, Petri Luoma, Jyrki Kaukonen, Richard M Chalmers, Kari Majamaa, Anders Oldfors
المصدر: Lancet (London, England). 364(9437)
مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Ophthalmoplegia, Chronic Progressive External, Movement disorders, Mitochondrial disease, Menopause, Premature, DNA-Directed DNA Polymerase, Biology, medicine.disease_cause, DNA, Mitochondrial, 03 medical and health sciences, 0302 clinical medicine, Parkinsonian Disorders, medicine, Humans, Age of Onset, Gene, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Multiple mitochondrial DNA deletions, Parkinsonism, Brain, General Medicine, Sequence Analysis, DNA, Middle Aged, medicine.disease, 3. Good health, DNA Polymerase gamma, Pedigree, Female, medicine.symptom, Age of onset, 030217 neurology & neurosurgery, Tomography, Emission-Computed
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المؤلفون: Rita Horvath, Petri Luoma, Anu Suomalainen, Johann Willeit, Stefan Kiechl, Michaela Jaksch, Claudia Thaler, R Stucka, U. Kiechl-Kohlendorfer, B Wallacher-Scholz, Julia Wanschitz
مصطلحات موضوعية: Paper, Male, Mitochondrial DNA, Pathology, medicine.medical_specialty, Ophthalmoplegia, Chronic Progressive External, Biopsy, DNA Mutational Analysis, DNA Primase, Biology, medicine.disease_cause, DNA, Mitochondrial, Mitochondrial Proteins, medicine, otorhinolaryngologic diseases, Missense mutation, Humans, Point Mutation, Myopathy, Muscle, Skeletal, Genetic testing, Aged, Genetics, Mutation, Muscle biopsy, medicine.diagnostic_test, External ophthalmoplegia, Point mutation, DNA Helicases, eye diseases, Psychiatry and Mental health, Blotting, Southern, Disease Progression, Surgery, Female, Neurology (clinical), medicine.symptom
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::137bde564dc9180222b420f176c0b442
https://europepmc.org/articles/PMC1739155/ -
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المؤلفون: Petri Luoma, Anu Suomalainen, Sjoerd Wanrooij, Johannes N. Spelbrink, Gert Van Goethem, Christine Van Broeckhoven
المصدر: Nucleic acids research
مصطلحات موضوعية: Adult, DNA Replication, Male, Mitochondrial DNA, Aging, Ophthalmoplegia, Chronic Progressive External, DNA polymerase, Mutagenesis (molecular biology technique), DNA Primase, DNA-Directed DNA Polymerase, medicine.disease_cause, Human mitochondrial genetics, DNA, Mitochondrial, Mitochondrial Proteins, Genetics, medicine, Humans, Muscle, Skeletal, Gene, Aged, Sequence Deletion, mtDNA control region, Mutation, biology, Point mutation, DNA Helicases, Articles, Cytochromes b, Middle Aged, Locus Control Region, Molecular biology, DNA Polymerase gamma, Pedigree, Mutagenesis, Child, Preschool, biology.protein, Female
وصف الملف: pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c79de7081a65181f06ec0b85f4cb82e7
https://europepmc.org/articles/PMC434440/