نتائج البحث - "Strømme, Petter"

1

دورية أكاديمية

A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis

المؤلفون: Misceo, Doriana, Lirussi, Lisa, Strømme, Petter, Sumathipala, Dulika, Guerin, Andrea, Wolf, Nicole I., Server, Andres, Stensland, Maria, Dalhus, Bjørn, Tolun, Asllhan, Kroes, Hester Y., Nyman, Tuula A., Nilsen, Hilde L., Frengen, Eirik

المصدر: Misceo , D , Lirussi , L , Strømme , P , Sumathipala , D , Guerin , A , Wolf , N I , Server , A , Stensland , M , Dalhus , B , Tolun , A , Kroes , H Y , Nyman , T A , Nilsen , H L & Frengen , E 2023 , ' A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis ' , Brain , vol. 146 , no. 8 , pp. 3513-3527 . https://doi.org/10.1093/brain/awad086Test

العلاقة: https://research.vumc.nl/en/publications/ca59f2ac-c872-437f-b260-81bcd9f82eebTest

الإتاحة: https://doi.org/10.1093/brain/awad086Test
https://research.vumc.nl/en/publications/ca59f2ac-c872-437f-b260-81bcd9f82eebTest
http://www.scopus.com/inward/record.url?scp=85168659763&partnerID=8YFLogxKTest

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2

دورية أكاديمية

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

المؤلفون: Saida, Ken, Maroofian, Reza, Sengoku, Toru, Mitani, Tadahiro, Pagnamenta, Alistair T., Marafi, Dana, Zaki, Maha S., O’Brien, Thomas J., Karimiani, Ehsan Ghayoor, Kaiyrzhanov, Rauan, Takizawa, Marina, Ohori, Sachiko, Leong, Huey Yin, Akay, Gulsen, Galehdari, Hamid, Zamani, Mina, Romy, Ratna, Carroll, Christopher J., Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Malek, Hadis, Ahangari, Najmeh, Tomoum, Hoda, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Murphy, David, Dominik, Natalia, Elbendary, Hasnaa M., Rafat, Karima, Yilmaz, Sanem, Kanmaz, Seda, Serin, Mine, Krishnakumar, Deepa, Gardham, Alice, Maw, Anna, Rao, Tekki Sreenivasa, Alsubhi, Sarah, Srour, Myriam, Buhas, Daniela, Jewett, Tamison, Goldberg, Rachel E., Shamseldin, Hanan, Frengen, Eirik, Misceo, Doriana, Strømme, Petter, Magliocco Ceroni, José Ricardo, Kim, Chong Ae, Yesil, Gozde, Sengenc, Esma

المساهمون: Muscular Dystrophy Association, Ataxia UK, American Brain Foundation, European Research Council, American Academy of Neurology, King Salman Center for Disability Research, Brain Research UK, National Institute of Neurological Disorders and Stroke, Baylor-Hopkins Center for Mendelian Genomics, International Rett Syndrome Foundation, Medical Research Council, National Institutes of Health, Muscular Dystrophy UK, University College London Hospitals Biomedical Research Centre, National Heart, Lung, and Blood Institute, Multiple System Atrophy Trust, National Human Genome Research Institute, Rosetrees Trust, Takeda Science Foundation, Great Ormond Street Hospital Charity, Japan Agency for Medical Research and Development, Japan Society for the Promotion of Science, Horizon 2020 Framework Programme, Horizon 2020

المصدر: Genetics in Medicine ; volume 25, issue 1, page 90-102 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.010Test
https://api.elsevier.com/content/article/PII:S1098360022009480?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022009480?httpAccept=text/plainTest

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3

دورية أكاديمية

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.

المصدر: Communications Biology; 7/8/2024, Vol. 7 Issue 1, p1-13, 13p

النص الكامل

4

دورية أكاديمية

Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome.

المؤلفون: Misceo, Doriana¹ (AUTHOR) doriana.misceo@medisin.uio.no, Strømme, Petter² (AUTHOR) petter.stromme@medisin.uio.no, Bitarafan, Fatemeh¹ (AUTHOR) ying.sheng@medisin.uio.no, Chawla, Maninder Singh³ (AUTHOR) mancha@ous-hf.no, Sheng, Ying¹ (AUTHOR) eirik.frengen@medisin.uio.no, Bach de Courtade, Sandra Monica⁴ (AUTHOR) sanbac@ous-hf.no, Eide, Lars⁴ (AUTHOR) lars.eide@medisin.uio.no, Frengen, Eirik¹ (AUTHOR)

المصدر: Genes. Apr2024, Vol. 15 Issue 4, p500. 10p.

مصطلحات موضوعية: *WHOLE genome sequencing, *MITOCHONDRIA, *MITOCHONDRIAL pathology, *OXIDATIVE phosphorylation, *WHITE matter (Nerve tissue), *MITOCHONDRIAL DNA abnormalities

النص الكامل

5

دورية أكاديمية

ZBTB11 dysfunction: Spectrum of brain abnormalities, biochemical signature and cellular consequences ; ENEngelskEnglishZBTB11 dysfunction: Spectrum of brain abnormalities, biochemical signature and cellular consequences

المصدر: 0006-8950.

العلاقة: HSØ/276940; Sumathipala, Dulika Sanjeewani Strømme, Petter Fattahi, Zohreh Lüders, Torben Sheng, Ying Kahrizi, Kimia Holm, Ingunn Sloan, Jennifer L Najmabadi, Hossein Van Den Heuvel, Lambert Wevers, Ron A Guerrero-Castillo, Sergio Mørkrid, Lars Valayannopoulos, Vassili Backe, Paul Hoff Venditti, Charles P Van Karnebeek, Clara D Nilsen, Hilde Frengen, Eirik Misceo, Doriana . ZBTB11 dysfunction: Spectrum of brain abnormalities, biochemical signature and cellular consequences. Brain. 2022, 145(7), 2602-2616; http://hdl.handle.net/10852/98974Test; 2064175; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Brain&rft.volume=145&rft.spage=2602&rft.date=2022; Brain; 145; 2602; 2616; https://doi.org/10.1093/brain/awac034Test

الإتاحة: https://doi.org/10.1093/brain/awac034Test
http://hdl.handle.net/10852/98974Test

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6

دورية أكاديمية

DNA methylation episignature in Gabriele-de Vries syndrome

المصدر: Genetics in Medicine ; volume 24, issue 4, page 905-914 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2021.12.003Test
https://api.elsevier.com/content/article/PII:S1098360021054228?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021054228?httpAccept=text/plainTest

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7

دورية أكاديمية

Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.

المؤلفون: Misceo, Doriana, Senaratne, Lokuliyanage Dona Samudita, Mero, Inger-Lise, Sundaram, Arvind Y. M., Bjørnstad, Pål Marius, Szczałuba, Krzysztof, Gasperowicz, Piotr, Kamien, Benjamin, Nedregaard, Bård, Holmgren, Asbjørn, Strømme, Petter, Frengen, Eirik

المصدر: Genes; Nov2023, Vol. 14 Issue 11, p1985, 11p

مصطلحات موضوعية: NUCLEOTIDE sequencing, HUMAN abnormalities, SYNDROMES, GENETIC disorder diagnosis, CILIOPATHY

النص الكامل

8

دورية أكاديمية

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

المؤلفون: Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K., Mirchi, Amytice, Saikali, Stephan, Tran, Luan T., Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M.L., Naidu, Sakkubai, Pohl, Daniela, Gibson, William T., Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L., Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L., Catsman-Berrevoets, Coriene, Pinto, Pedro S., Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S., Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M., Innes, A. Micheil, Kauffman, Marcelo, Kirwin, Susan M., Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I., Moutton, Sebastien, Murphy, Raymond P.J., Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R., Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K., Stevens, Cathy A., Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P., Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I., Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S., Vanderver, Adeline, Martos-Moreno, Gabriel, Polychronakos, Constantin, Wolf, Nicole I., Bernard, Geneviève

المصدر: Pelletier , F , Perrier , S , Cayami , F K , Mirchi , A , Saikali , S , Tran , L T , Ulrick , N , Guerrero , K , Rampakakis , E , van Spaendonk , R M L , Naidu , S , Pohl , D , Gibson , W T , Demos , M , Goizet , C , Tejera-Martin , I , Potic , A , Fogel , B L , Brais , B , Sylvain , M , Sébire , G , Lourenço , C M , Bonkowsky , J ....

العلاقة: https://research.vumc.nl/en/publications/4ed1cf4c-2852-4385-8e8b-e7bc6af4a12aTest

الإتاحة: https://doi.org/10.1210/clinem/dgaa700Test
https://research.vumc.nl/en/publications/4ed1cf4c-2852-4385-8e8b-e7bc6af4a12aTest
http://www.scopus.com/inward/record.url?scp=85097520880&partnerID=8YFLogxKTest

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9

دورية أكاديمية

LossofCBY1resultsinaciliopathycharacterizedbyfeatures ofJoubert syndrome

المصدر: 1059-7794.

العلاقة: http://urn.nb.no/URN:NBN:no-84251Test; Epting, Daniel Senaratne, Lokuliyanage Dona Samudita Ott, Elisabeth Holmgren, Asbjørn Sumathipala, Dulika Sanjeewani Larsen, Selma Mujezinovic Wallmeier, Julia Bracht, Diana Frikstad, Kari-Anne Crowley, Suzanne SIKIRIC, ALMA Barøy, Tuva Käsmann‐Kellner, Barbara Decker, Eva Decker, Christian Bachmann, Nadine Patzke, Sebastian Phelps, Ian G. Katsanis, Nicholas Giles, Rachel Schmidts, Miriam Zucknick, Manuela Lienkamp, Soeren S. Omran, Heymut Davis, Erica E. Doherty, Dan Strømme, Petter Frengen, Eirik Bergmann, Carsten Misceo, Doriana . LossofCBY1resultsinaciliopathycharacterizedbyfeatures ofJoubert syndrome. Human Mutation. 2020, 1-16; http://hdl.handle.net/10852/81158Test; 1846270; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Human Mutation&rft.volume=&rft.spage=1&rft.date=2020; Human Mutation; https://doi.org/10.1002/humu.24127Test; URN:NBN:no-84251; Fulltext https://www.duo.uio.no/bitstream/handle/10852/81158/4/humu.24127.pdfTest

الإتاحة: https://doi.org/10.1002/humu.24127Test
http://hdl.handle.net/10852/81158Test
http://urn.nb.no/URN:NBN:no-84251Test

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10

دورية أكاديمية

Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report

المؤلفون: Sumathipala, Dulika, Strømme, Petter, Gilissen, Christian, Einarsen, Ingunn H, Bjørndalen, Hilde J, Server, Andrés, Corominas, Jordi, Hassel, Bjørnar, Fannemel, Madeleine, Misceo, Doriana, Frengen, Eirik

العلاقة: http://urn.nb.no/URN:NBN:no-78505Test; BMC Medical Genetics. 2020 May 07;21(1):96; http://hdl.handle.net/10852/75469Test; https://doi.org/10.1186/s12881-020-01024-yTest; URN:NBN:no-78505; Fulltext https://www.duo.uio.no/bitstream/handle/10852/75469/1/12881_2020_Article_1024.pdfTest

الإتاحة: https://doi.org/10.1186/s12881-020-01024-yTest
http://hdl.handle.net/10852/75469Test
http://urn.nb.no/URN:NBN:no-78505Test

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