يعرض 1 - 10 نتائج من 17 نتيجة بحث عن '"Lisa Abreu"', وقت الاستعلام: 0.95s تنقيح النتائج
  1. 1
    BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease

    المؤلفون: Adriana P. Rebelo, Ariel Ruiz, Maike F. Dohrn, Melanie Wayand, Amjad Farooq, Matt C. Danzi, Danique Beijer, Brooke Aaron, Jana Vandrovcova, Henry Houlden, Leslie Matalonga, Lisa Abreu, Guy Rouleau, Mehrdad A. Estiar, Liedewei Van de Vondel, Ziv Gan-Or, Jonathan Baets, Rebecca Schüle, Stephan Zuchner

    المصدر: Genetics in medicine 12, 2487-2500 (2022). doi:10.1016/j.gim.2022.08.019
    Genetics in medicine

    مصطلحات موضوعية: Neurodegenerative Diseases, Endoplasmic Reticulum, metabolism [Motor Neuron Disease], Unfolded protein response, metabolism [Endoplasmic Reticulum], Humans, metabolism [Heat-Shock Proteins], genetics [Motor Neuron Disease], Human medicine, ddc:610, chemistry [Heat-Shock Proteins], Motor neuron disease, Neurodegeneration, Motor Neuron Disease, genetics [Endoplasmic Reticulum], Endoplasmic Reticulum Chaperone BiP, Heat-Shock Proteins, Genetics (clinical)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa5233d0f90f6335712dd91820fe7f80
    https://doi.org/10.1016/j.gim.2022.08.019

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  2. 2
    A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement

    المؤلفون: Diana Castro, Mary M. Reilly, Steve Courel, Amit Abraham, Lisa Abreu, Chelsea Bacon, Gal Shner, Ramin Shiekhattar, Yael Eshed-Eisenbach, Anna Vainshtein, Andrea Cortese, Elior Peles, Michael E. Shy, Elena Buglo, Yunhong Bai, Gabriel Gaidosh, Stephan Züchner, Adriana P. Rebelo, Vladimir Camarena, Dennis K. Burns, Shawna M. E. Feely

    المصدر: Brain. 144:1197-1213

    مصطلحات موضوعية: 0301 basic medicine, Mutation, Cell adhesion molecule, Endoplasmic reticulum, Mutant, Biology, medicine.disease_cause, Cell biology, 03 medical and health sciences, Myelin, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, nervous system, Mutant protein, medicine, Neuroglia, Neurology (clinical), Axon, 030217 neurology & neurosurgery

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::566cad80b83eba4923d381a9a83e7c12
    https://doi.org/10.1093/brain/awab019

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  3. 3
    Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement

    المؤلفون: Vladimir Camarena, Yunhong Bai, Diana Castro, Chelsea Bacon, Andrea Cortese, Anna Vainshtein, Lisa Abreu, Gabriel Gaidosh, Gal Shner, Adriana P. Rebelo, Amit Abraham, Elena Buglo, Dennis K. Burns, Elior Peles, Shawna M. E. Feely, Stephan Züchner, Yael Eshed-Eisenbach, Michael E. Shy, Mary M. Reilly, Steve Courel, Ramin Shiekhattar

    المصدر: Brain

    مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Upper limb involvement, Immunoglobulins, Tooth disease, Charcot-Marie-Tooth Disease, Medicine, Humans, Child, Errata, business.industry, Published Erratum, Original Articles, Middle Aged, Dermatology, Axons, Pedigree, Phenotype, nervous system, Mutation, Female, Neurology (clinical), business, Cell Adhesion Molecules, Neuroglia

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e8c973c997434d56a8bb7ae289eb5b6
    https://pubmed.ncbi.nlm.nih.gov/33889941

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  4. 4
    Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A

    المؤلفون: John W. Day, Davide Pareyson, Camila Lopez-Anido, Frank Baas, John Svaren, Jasper M. Morrow, Feifei Tao, Mary M. Reilly, Camiel Verhamme, Jun Li, Shawna M. E. Feely, Gary W. Beecham, Thomas E. Lloyd, Lisa Abreu, Sabrina W. Yum, Michael E. Shy, Byung-Ok Choi, John J. Moran, David N. Herrmann, Steven S. Scherer, Stephan Züchner, Mario Saporta, Adriana P. Rebelo, Callyn A. Kirk, Susan H. Blanton, Devon Rizzo, Franco Taroni, Xingyao Wu, Charlotte J. Sumner

    المصدر: Annals of Neurology. 85:316-330

    مصطلحات موضوعية: 0301 basic medicine, Regulation of gene expression, Genetics, Gene knockdown, Single-nucleotide polymorphism, Biology, Charcot-Marie-Tooth Disease Type 1A, Phenotype, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Gene duplication, Neurology (clinical), Gene, Chromatin immunoprecipitation, 030217 neurology & neurosurgery

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ee4925f7df7d6b0053eca319b21684c7
    https://doi.org/10.1002/ana.25426

    View record at Wiley
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  5. 5
    Modifier gene candidates in charcot-marie-tooth disease type 1A: A case-only genome-wide association study

    المؤلفون: Steven S. Scherer, Adriana P. Rebelo, Susan H. Blanton, Byung-Ok Choi, Devon Rizzo, Franco Taroni, Sabrina W. Yum, Shawna M. E. Feely, John W. Day, Gary W. Beecham, Michael E. Shy, Thomas E. Lloyd, Charlotte J. Sumner, Feifei Tao, Stephan Züchner, Jun Li, David N. Herrmann, Mary M. Reilly, Frank Baas, John Svaren, Camiel Verhamme, John J. Moran, Xingyao Wu, Mario Saporta, Callyn A. Kirk, Camila Lopez-Anido, Lisa Abreu, Davide Pareyson

    المساهمون: Neurology, Amsterdam Neuroscience - Neuroinfection & -inflammation, Amsterdam Reproduction & Development (AR&D)

    المصدر: Journal of neuromuscular diseases, 6(2), 201-211. IOS Press
    Journal of Neuromuscular Diseases

    مصطلحات موضوعية: Research Report, 0301 basic medicine, Genotype, Single-nucleotide polymorphism, Genome-wide association study, Disease, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Gene duplication, Humans, SNP, Medicine, Genetic association, Genes, Modifier, Charcot-marie-tooth disease, business.industry, Odds ratio, Charcot-Marie-Tooth Disease Type 1A, 3. Good health, 030104 developmental biology, Neurology, type 1a, genome-wide association study, modifier gene, single nucleotide polymorphism, Neurology (clinical), business, 030217 neurology & neurosurgery, Genome-Wide Association Study

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bfb8de74364d067fd401c8511189c98
    https://doi.org/10.3233/jnd-190377

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  6. 6
    The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

    المؤلفون: Julia Wanschitz, Manuela Wiessner, Rebecca Schüle, Royston Ong, Jennefer N. Kohler, Katharina Kinslechner, Pavel Seeman, Katja Eggermann, Bruno Francou, Marina L. Kennerson, Sabine Rudnik-Schöneborn, Garth Nicholson, Lois Dankwa, Jochen Weishaupt, Wilson Marques, T Deconinck, Tanya Stojkovic, Lisa Abreu, Anja Schirmacher, Jan Senderek, Christian Beetz, Matthis Synofzik, Stephan Iglseder, Susanne Petri, Michaela Auer-Grumbach, Nigel G. Laing, Rita Horvath, Geir J. Braathen, Reinhard Windhager, Petra Lassuthova, Jonathan Baets, Albert Ludolph, Peter De Jonghe, David N. Herrmann, Ingo Kurth, Bianca Dräger, Gianina Ravenscroft, Adriana P. Rebelo, Beate Schlotter-Weigel, Tim M. Strom, Phillipa J. Lamont, Stefan Toegel, Daniela Weinmann, David A. Brenner, Andrzej Kochański, Dagmara Kabzińska, Joline Dalton, David Walk, Carina Fischer, Giulia Ricci, Helle Høyer, Ludger Schoels, Stephan Züchner, Peter Young, Löscher Wolfgang N, Johannes Wagner, Melina Ellis

    المساهمون: Dankwa, Lois [0000-0002-0259-9550], Kurth, Ingo [0000-0002-5642-8378], Apollo - University of Cambridge Repository

    المصدر: Neurology 95(24), e3163-e3179 (2020). doi:10.1212/WNL.0000000000011132

    مصطلحات موضوعية: 0301 basic medicine, Male, Aging, Population, blood [Neprilysin], Disease, Genetic analysis, Whole Exome Sequencing, genetics [Neprilysin], 03 medical and health sciences, 0302 clinical medicine, blood [Hereditary Sensory and Motor Neuropathy], Charcot-Marie-Tooth Disease, blood [Charcot-Marie-Tooth Disease], Exome Sequencing, blood [Aging], Medicine, Humans, Genetic Predisposition to Disease, ddc:610, genetics [Genetic Predisposition to Disease], Allele, Age of Onset, education, Neprilysin, Exome sequencing, Aged, Genetics, education.field_of_study, business.industry, genetics [Hereditary Sensory and Motor Neuropathy], High-Throughput Nucleotide Sequencing, Middle Aged, Phenotype, 030104 developmental biology, Female, Neurology (clinical), genetics [Charcot-Marie-Tooth Disease], Age of onset, business, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery

    وصف الملف: application/octet-stream; application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd83f458ea8f8c3459dda9f6467c43b7
    http://hdl.handle.net/11568/1066057

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  7. 7
    Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

    المؤلفون: Enrico Bugiardini, Matt C. Danzi, Nourelhoda A Haridy, Ruxu Zhang, Lisa Abreu, Thierry Maisonobe, Dana M. Bis-Brewer, Fiore Manganelli, Davide Pareyson, Yunhong Bai, Enrico Marchioni, Adriana P. Rebelo, Andrea Cortese, Yi Zhu, Matthis Synofzik, Sherifa A. Hamed, Michael E. Shy, Tanya Stojkovic, Zhiqiang Lin, Alaa Khan, Mohamed A. Abdelhamed, Michaela Auer-Grumbach, Stefania Magri, Stefano Tozza, Chelsea Bacon, Matilde Laura, Alkyoni Athanasiou-Fragkouli, Alexander M. Rossor, Chiara Pisciotta, R. Grace Zhai, Janet E. Sowden, Mary M. Reilly, Abdullah Al-Ajmi, Rebecca Schüle, Shawna M. E. Feely, Stephan Züchner, David N. Herrmann, Steve Courel, Steven S. Scherer, Beisha Tang, Julia E. Dallman, Paola Saveri, Franco Taroni, Jana Vandrovcova, Lucio Santoro, Eric Powell, Menelaos Pipis, Elena Buglo, Sara Negri, Henry Houlden, Elena Grignani, Rosario Isasi

    المصدر: Nature genetics 52(6), 640 (2020). doi:10.1038/s41588-020-0649-7

    مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Diabetes mellitus, Published Erratum, ddc:570, Genetics, MEDLINE, medicine, Biology, medicine.disease

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92142d06c986e6a8c25c3a661e777559
    https://pub.dzne.de/record/163921

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  8. 8
    Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

    المؤلفون: Franco Taroni, Enrico Marchioni, Thierry Maisonobe, Mary M. Reilly, Enrico Bugiardini, Jana Vandrovcova, Steve Courel, Alkyoni Athanasiou-Fragkouli, Chiara Pisciotta, Fiore Manganelli, Janet E. Sowden, Davide Pareyson, Matthis Synofzik, Abdullah Al-Ajmi, Rebecca Schüle, Matt C. Danzi, Sherifa A. Hamed, Adriana P. Rebelo, R. Grace Zhai, Chelsea Bacon, Zhiqiang Lin, Michaela Auer-Grumbach, Eric Powell, Shawna M. E. Feely, Alaa Khan, Steven S. Scherer, Tanya Stojkovic, Julia E. Dallman, Yunhong Bai, Dana M. Bis-Brewer, Paola Saveri, Henry Houlden, Stefano Tozza, Lucio Santoro, Stephan Züchner, Elena Grignani, David N. Herrmann, Michael E. Shy, Mohamed A. Abdelhamed, Stefania Magri, Andrea Cortese, Menelaos Pipis, Yi Zhu, Beisha Tang, Matilde Laura, Alexander M. Rossor, Nourelhoda A Haridy, Ruxu Zhang, Lisa Abreu, Elena Buglo, Sara Negri, Rosario Isasi

    المصدر: Nature genetics 52(5), 473-481 (2020). doi:10.1038/s41588-020-0615-4
    Nature Genetics
    Nat Genet

    مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Aldose reductase, Diabetic neuropathy, Sorbitol dehydrogenase, Biology, medicine.disease, Compound heterozygosity, Phenotype, Article, 3. Good health, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Polyol pathway, Endocrinology, chemistry, ddc:570, Internal medicine, Diabetes mellitus, Genetics, medicine, Sorbitol, 030217 neurology & neurosurgery, 030304 developmental biology

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6d8306b7728b9b8c98c7e67ee887083
    https://pubmed.ncbi.nlm.nih.gov/32457452

    Find this article in full text from Springer Verlag. Find this article in full text from ProQuest
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  9. 9
    Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

    المؤلفون: Dana Šafka Brožková, Rene Barro-Soria, H. Peter Larsson, Petra Laššuthová, Shawna M. E. Feely, Pavel Seeman, Eric Powell, Yi-Chung Lee, Elena Buglo, Daniel G. Isom, Cima Saghira, Feifei Tao, Royston Ong, Yunhong Bai, Steven S. Scherer, Lorna Marns, Chelsea Bacon, Gianina Ravenscroft, Megan F. Baxter, Lisa Abreu, Stephan Züchner, Jana Haberlová, Phillipa J. Lamont, Adriana P. Rebelo, Fiore Manganelli, Mark R. Davis, Lucio Santoro, Steve Courel, Ki Wha Chung, Dana M. Bis, Radim Mazanec, Michael E. Shy, Byung Ok Choi, Nigel G. Laing

    المساهمون: Lassuthova, Petra, Rebelo, Adriana P., Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Manganelli, Fiore, Feely, Shawna M., Bacon, Chelsea, Brožková, Dana Šafka, Haberlova, Jana, Mazanec, Radim, Tao, Feifei, Saghira, Cima, Abreu, Lisa, Courel, Steve, Powell, Eric, Buglo, Elena, Bis, Dana M., Baxter, Megan F., Ong, Royston W., Marns, Lorna, Lee, Yi-Chung, Bai, Yunhong, Isom, Daniel G., Barro-Soria, René, Chung, Ki W., Scherer, Steven S., Larsson, H. Peter, Laing, Nigel G., Choi, Byung-Ok, Seeman, Pavel, Shy, Michael E., Santoro, Lucio, Zuchner, Stephan

    المصدر: The American Journal of Human Genetics. 102:505-514

    مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Charcot-Marie-Tooth, axonal neuropathy, Protein subunit, Mutant, Xenopus, Biology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genetic, Charcot-Marie-Tooth Disease, Report, Genetics, Humans, Missense mutation, Family, Amino Acid Sequence, Na+,K+ATPase, Na+/K+-ATPase, Child, Gene, Genetics (clinical), Aged, Genes, Dominant, Aged, 80 and over, CMT, genetic matchmaking, ATP1A1, Middle Aged, biology.organism_classification, Molecular biology, Axolemma, Pedigree, 030104 developmental biology, Mutation, Female, Mendelian disease, Sodium-Potassium-Exchanging ATPase, 030217 neurology & neurosurgery, Immunostaining

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cedc66075ce50765bde1ecbd17fed84
    https://doi.org/10.1016/j.ajhg.2018.01.023

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  10. 10
    SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

    المؤلفون: Diana Mnatsakanova, Tyler C. Huff, K. Mathews, Adriana P. Rebelo, Michael E. Shy, Eric A. Schon, Lisa Abreu, Amjad Farooq, Carlos T. Moraes, Claudia V. Pereira, Stephan Züchner, Hua Yang, Dimah Saade

    المصدر: Brain. 141:662-672

    مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, biology, business.industry, ATP7A, Cardiomyopathy, Heterozygote advantage, medicine.disease, Compound heterozygosity, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, biology.protein, Cytochrome c oxidase, Missense mutation, Charcot-Marie-Tooth disease type 4, Neurology (clinical), Copper deficiency, business, 030217 neurology & neurosurgery

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::44c66eb8a325a342af3577fd9425cef7
    https://doi.org/10.1093/brain/awx369

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