المؤلفون: Caporali L., Magri S., Legati A., Del Dotto V., Tagliavini F., Balistreri F., Nasca A., La Morgia C., Carbonelli M., Valentino M. L., Lamantea E., Baratta S., Schols L., Schule R., Barboni P., Cascavilla M. L., Maresca A., Capristo M., Ardissone A., Pareyson D., Cammarata G., Melzi L., Zeviani M., Peverelli L., Lamperti C., Marzoli S. B., Fang M., Synofzik M., Ghezzi D., Carelli V., Taroni F.

المساهمون: Caporali, L., Magri, S., Legati, A., Del Dotto, V., Tagliavini, F., Balistreri, F., Nasca, A., La Morgia, C., Carbonelli, M., Valentino, M. L., Lamantea, E., Baratta, S., Schols, L., Schule, R., Barboni, P., Cascavilla, M. L., Maresca, A., Capristo, M., Ardissone, A., Pareyson, D., Cammarata, G., Melzi, L., Zeviani, M., Peverelli, L., Lamperti, C., Marzoli, S. B., Fang, M., Synofzik, M., Ghezzi, D., Carelli, V., Taroni, F.

مصطلحات موضوعية: ATP-Dependent Protease, ATPases Associated with Diverse Cellular Activitie, Adolescent, Adult, Aged, Child, Female, GTP Phosphohydrolase, Genetic Testing, High-Throughput Nucleotide Sequencing, Human, Male, Middle Aged, Mutation, Optic Atrophy, Optic Nerve Disease, Pedigree, Whole Exome Sequencing, Young Adult

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32219868; info:eu-repo/semantics/altIdentifier/wos/WOS:000527023600001; volume:88; issue:1; firstpage:18; lastpage:32; numberofpages:15; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/11577/3354161Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85083678159

الإتاحة: https://doi.org/10.1002/ana.25723Test
http://hdl.handle.net/11577/3354161Test

المؤلفون: Legati A., Reyes A., Nasca A., Invernizzi F., Lamantea E., Tiranti V., Garavaglia B., Lamperti C., Ardissone A., Moroni I., Robinson A., Ghezzi D., Zeviani M.

المساهمون: Legati, A., Reyes, A., Nasca, A., Invernizzi, F., Lamantea, E., Tiranti, V., Garavaglia, B., Lamperti, C., Ardissone, A., Moroni, I., Robinson, A., Ghezzi, D., Zeviani, M.

مصطلحات موضوعية: E4F1, Mitochondrial disorder, Next Generation Sequencing, Whole Exome sequencing, Adolescent, Amino Acid Sequence, Child, Preschool, Cohort Studie, DNA, Mitochondrial, Electron Transport, Electron Transport Chain Complex Protein, Exome, Female, Gene Expression, Heterozygote, High-Throughput Nucleotide Sequencing, Homozygote, Human, Infant, Male, Mitochondria, Mitochondrial Disease, Molecular Sequence Data, Repressor Protein, Sequence Alignment, Young Adult, Mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26968897; info:eu-repo/semantics/altIdentifier/wos/WOS:000378179300033; volume:1857; issue:8; firstpage:1326; lastpage:1335; numberofpages:10; journal:BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS; http://hdl.handle.net/11577/3354191Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84962199060

الإتاحة: https://doi.org/10.1016/j.bbabio.2016.02.022Test
http://hdl.handle.net/11577/3354191Test

المؤلفون: Rocca M. A., Bianchi-Marzoli S., Messina R., Cascavilla M. L., Zeviani M., Lamperti C., Milesi J., Carta A., Cammarata G., Leocani L., Lamantea E., Bandello F., Comi G., Falini A., Filippi M.

المساهمون: Rocca, M. A., Bianchi-Marzoli, S., Messina, R., Cascavilla, M. L., Zeviani, M., Lamperti, C., Milesi, J., Carta, A., Cammarata, G., Leocani, L., Lamantea, E., Bandello, F., Comi, G., Falini, A., Filippi, M.

مصطلحات موضوعية: Diffusion tensor MRI, Dominant optic atrophy, Magnetic resonance imaging, Mitochondrial mutation, Optic coherence tomography, Regional atrophy, White matter, Adult, Anisotropy, Diagnostic Techniques, Ophthalmological, Diffusion Magnetic Resonance Imaging, Electroencephalography, Evoked Potentials, Auditory, Female, GTP Phosphohydrolase, Human, Male, Middle Aged, Mutation, Neurologic Examination, Optic Atrophy, Autosomal Dominant, Statistics, Nonparametric, Young Adult

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25794858; info:eu-repo/semantics/altIdentifier/wos/WOS:000354950500014; volume:262; issue:5; firstpage:1216; lastpage:1227; numberofpages:12; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/11577/3354202Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84929844846

الإتاحة: https://doi.org/10.1007/s00415-015-7696-5Test
http://hdl.handle.net/11577/3354202Test

المؤلفون: Mayr J. A., Haack T. B., Graf E., Zimmermann F. A., Wieland T., Haberberger B., Superti-Furga A., Kirschner J., Steinmann B., Baumgartner M. R., Moroni I., Lamantea E., Zeviani M., Rodenburg R. J., Smeitink J., Strom T. M., Meitinger T., Sperl W., Prokisch H.

المساهمون: Mayr, J. A., Haack, T. B., Graf, E., Zimmermann, F. A., Wieland, T., Haberberger, B., Superti-Furga, A., Kirschner, J., Steinmann, B., Baumgartner, M. R., Moroni, I., Lamantea, E., Zeviani, M., Rodenburg, R. J., Smeitink, J., Strom, T. M., Meitinger, T., Sperl, W., Prokisch, H.

مصطلحات موضوعية: Adult, Allele, Cardiomyopathie, Cataract, Child, Exome, Female, Heterozygote, Human, Infant, Newborn, Male, Mitochondria, Mitochondrial ADP, ATP Translocase, Mitochondrial Protein, Muscle, Phenotype, Phospholipid, Phosphotransferases (Alcohol Group Acceptor), Young Adult, Codon, Nonsense

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22284826; info:eu-repo/semantics/altIdentifier/wos/WOS:000300742200013; volume:90; issue:2; firstpage:314; lastpage:320; numberofpages:7; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3354256Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84857043743

الإتاحة: https://doi.org/10.1016/j.ajhg.2011.12.005Test
http://hdl.handle.net/11577/3354256Test

المؤلفون: Maria Lucia Valentino, Stefania Magri, Matthis Synofzik, Lorenzo Peverelli, Mingyan Fang, Alessia Nasca, Piero Barboni, Andrea Legati, Anna Ardissone, Stefania Bianchi Marzoli, Francesca Tagliavini, Eleonora Lamantea, Silvia Baratta, Daniele Ghezzi, Costanza Lamperti, Valerio Carelli, Chiara La Morgia, Rebecca Schüle, Mariantonietta Capristo, Gabriella Cammarata, Leonardo Caporali, Francesca Balistreri, Valentina Del Dotto, Davide Pareyson, Massimo Zeviani, L Melzi, Ludger Schöls, Michele Carbonelli, Franco Taroni, Maria Lucia Cascavilla, Alessandra Maresca

المساهمون: Caporali L., Magri S., Legati A., Del Dotto V., Tagliavini F., Balistreri F., Nasca A., La Morgia C., Carbonelli M., Valentino M.L., Lamantea E., Baratta S., Schols L., Schule R., Barboni P., Cascavilla M.L., Maresca A., Capristo M., Ardissone A., Pareyson D., Cammarata G., Melzi L., Zeviani M., Peverelli L., Lamperti C., Marzoli S.B., Fang M., Synofzik M., Ghezzi D., Carelli V., Taroni F.

المصدر: Annals of Neurology
Annals of neurology 88(1), 18-32 (2020). doi:10.1002/ana.25723

مصطلحات موضوعية: Male, 0301 basic medicine, DOA, Gene mutation, medicine.disease_cause, ATP-Dependent Proteases, ATPases Associated with Diverse Cellular Activities, Adolescent, Adult, Aged, Child, Female, GTP Phosphohydrolases, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Middle Aged, Mutation, Optic Atrophy, Optic Nerve Diseases, Pedigree, Whole Exome Sequencing, Young Adult, OPA1, genetics [Optic Atrophy], Optic neuropathy, 0302 clinical medicine, genetics [ATPases Associated with Diverse Cellular Activities], Research Articles, Exome sequencing, Genetics, genetics [Optic Nerve Diseases], Neurology, Spinocerebellar ataxia, medicine.symptom, Research Article, genetics [GTP Phosphohydrolases], Spastic gait, Ataxia, Biology, SCA28, 03 medical and health sciences, Atrophy, Exome Sequencing, medicine, ddc:610, AFG3L2, medicine.disease, eye diseases, optic neuropathy, 030104 developmental biology, genetics [ATP-Dependent Proteases], Neurology (clinical), 030217 neurology & neurosurgery

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46c2c378c78c80511b96cd807a4395b2Test
https://doi.org/10.1002/ana.25723Test

المؤلفون: Alan J. Robinson, Daniele Ghezzi, Isabella Moroni, Costanza Lamperti, Federica Invernizzi, Eleonora Lamantea, Massimo Zeviani, Andrea Legati, Alessia Nasca, Aurelio Reyes, Valeria Tiranti, Barbara Garavaglia, Anna Ardissone

المساهمون: Reyes Tellez, Aurelio [0000-0003-2876-2202], Robinson, Alan [0000-0001-9943-0059], Apollo - University of Cambridge Repository, Legati, A, Reyes, A, Nasca, A, Invernizzi, F, Lamantea, E, Tiranti, V, Garavaglia, B, Lamperti, C, Ardissone, A, Moroni, I, Robinson, A, Ghezzi, D, Zeviani, M

المصدر: Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1857:1326-1335

مصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial Diseases, Next Generation Sequencing, Gene Expression, Biochemistry, Cohort Studies, 0302 clinical medicine, Mitochondrial Disease, Exome, Child, Exome sequencing, Genetics, Electron Transport Chain Complex Protein, Homozygote, High-Throughput Nucleotide Sequencing, Penetrance, Mitochondrial, Mitochondrial disorder, Mitochondria, Child, Preschool, Female, Human, E4F1, Mitochondrial disorders, Whole Exome sequencing, Adolescent, Amino Acid Sequence, DNA, Mitochondrial, Electron Transport, Electron Transport Chain Complex Proteins, Heterozygote, Humans, Infant, Molecular Sequence Data, Repressor Proteins, Sequence Alignment, Young Adult, Mutation, Mitochondrial DNA, Nuclear gene, Ubiquitin-Protein Ligases, Mitochondrial disease, Biophysics, Biology, DNA sequencing, 03 medical and health sciences, Genetic linkage, medicine, Preschool, DNA, Cell Biology, Repressor Protein, medicine.disease, 030104 developmental biology, Biophysic, Cohort Studie, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec2f897bc20a44592f030d368526d324Test
https://doi.org/10.1016/j.bbabio.2016.02.022Test

المؤلفون: Giancarlo Comi, Gabriella Cammarata, Eleonora Lamantea, Costanza Lamperti, Jacopo Milesi, Francesco Bandello, Andrea Falini, Arturo Carta, Letizia Leocani, Massimo Zeviani, Maria Lucia Cascavilla, Stefania Bianchi-Marzoli, Massimo Filippi, Maria A. Rocca, Roberta Messina

المساهمون: Rocca, Ma, Bianchi Marzoli, S, Messina, R, Cascavilla, Ml, Zeviani, M, Lamperti, C, Milesi, J, Carta, A, Cammarata, G, Leocani, ANNUNZIATA MARIA LETIZIA, Lamantea, E, Bandello, Francesco, Comi, Giancarlo, Falini, Andrea, Filippi, Massimo

مصطلحات موضوعية: Male, Pathology, Diffusion tensor MRI, Dominant optic atrophy, Magnetic resonance imaging, Mitochondrial mutation, Optic coherence tomography, Regional atrophy, White matter, Adult, Anisotropy, Diagnostic Techniques, Ophthalmological, Diffusion Magnetic Resonance Imaging, Electroencephalography, Evoked Potentials, Auditory, Female, GTP Phosphohydrolases, Humans, Middle Aged, Mutation, Neurologic Examination, Optic Atrophy, Autosomal Dominant, Statistics, Nonparametric, White Matter, Young Adult, genetic structures, Ophthalmological, Corpus callosum, Evoked Potentials, Auditory, Statistics, Anatomy, medicine.anatomical_structure, Neurology, Autosomal Dominant, medicine.medical_specialty, Optic tract, Grey matter, Atrophy, Fractional anisotropy, medicine, Nonparametric, business.industry, medicine.disease, Diagnostic Techniques, Optic Atrophy, Corticospinal tract, Neurology (clinical), business, Optic radiation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5776ad41d466b085a396a5a6908fae72Test