نتائج البحث - "Sanderson, Leslie E."

1

Academic Journal

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

المؤلفون: Deng, Ruizhi, Medico-Salsench, Eva, Nikoncuk, Anita, Ramakrishnan, Reshmi, Lanko, Kristina, Kühn, Nikolas A, van der Linde, Herma C, Lor-Zade, Sarah, Albuainain, Fatimah, Shi, Yuwei, Yousefi, Soheil, Capo, Ivan, van den Herik, Evita Medici, van Slegtenhorst, Marjon, van Minkelen, Rick, Geeven, Geert, Mulder, Monique T, Ruijter, George J G, Lütjohann, Dieter, Jacobs, Edwin H, Houlden, Henry, Pagnamenta, Alistair T, Metcalfe, Kay, Jackson, Adam, Banka, Siddharth, De Simone, Lenika, Schwaede, Abigail, Kuntz, Nancy, Palculict, Timothy Blake, Abbas, Safdar, Umair, Muhammad, AlMuhaizea, Mohammed, Colak, Dilek, AlQudairy, Hanan, Alsagob, Maysoon, Pereira, Catarina, Trunzo, Roberta, Karageorgou, Vasiliki, Bertoli-Avella, Aida M, Bauer, Peter, Bouman, Arjan, Hoefsloot, Lies H, van Ham, Tjakko J, Issa, Mahmoud, Zaki, Maha S, Gleeson, Joseph G, Willemsen, Rob, Kaya, Namik, Arold, Stefan T, Maroofian, Reza, Sanderson, Leslie E, Barakat, Tahsin Stefan

المصدر: Deng , R , Medico-Salsench , E , Nikoncuk , A , Ramakrishnan , R , Lanko , K , Kühn , N A , van der Linde , H C , Lor-Zade , S , Albuainain , F , Shi , Y , Yousefi , S , Capo , I , van den Herik , E M , van Slegtenhorst , M , van Minkelen , R , Geeven , G , Mulder , M T , Ruijter , G J G , Lütjohann , D , Jacobs , E H , Houlden , H , Pagnamenta , ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/ebca86dc-197a-4176-9980-f0f2e6ce374a
https://doi.org/10.1007/s00401-023-02579-9
https://pure.eur.nl/ws/files/90563148/AMFR_dysfunction_causes_autosomal_recessive_spastic_paraplegia_in_human_that_is_amenable_to_statin_treatment_in_a_preclinical_model.pdf
http://www.scopus.com/inward/record.url?scp=85153927213&partnerID=8YFLogxK

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2

Academic Journal

Autosomal recessive BLOC1S1 variants cause a hypomyelinating leukodystrophy with epileptic encephalopathy

المصدر: Molecular Genetics and Metabolism ; volume 141, issue 4, page 108328 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2024.108328
https://api.elsevier.com/content/article/PII:S1096719224002130?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719224002130?httpAccept=text/plain

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3

Academic Journal

The multicellular interplay of microglia in health and disease:Lessons from leukodystrophy

المؤلفون: Berdowski, Woutje M., Sanderson, Leslie E., van Ham, Tjakko J.

المصدر: Berdowski , W M , Sanderson , L E & van Ham , T J 2021 , ' The multicellular interplay of microglia in health and disease : Lessons from leukodystrophy ' , DMM Disease Models and Mechanisms , vol. 14 , no. 8 , dmm048925 . https://doi.org/10.1242/DMM.048925

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

الاتاحة: https://pure.eur.nl/en/publications/e2b42d1c-a2fe-4a08-ab64-1edd8c7585d4
https://doi.org/10.1242/DMM.048925
http://www.scopus.com/inward/record.url?scp=85111744539&partnerID=8YFLogxK

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4

Academic Journal

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

المؤلفون: Sanderson, Leslie E., Lanko, Kristina, Alsagob, Maysoon, Almass, Rawan, Al-Ahmadi, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad A., Alzaidan, Hamad, Aldhalaan, Hesham, Perenthaler, Elena, Van Der Linde, Herma C., Nikoncuk, Anita, Kühn, Nikolas A., Antony, Dinu, Owaidah, Tarek Mustafa, Raskin, Salmo, Vieira, Luana Gabriela Dalla Rosa, Mombach, Romulo, Ahangari, Najmeh, Silveira, Tainá Regina Damaceno, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda M., Alahmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, Alhargan, Aljouhra, Albader, Anoud A., Binhumaid, Faisal S., Goljan, Ewa, Monies, Dorota, Mustafa, Osama M., Aldosary, Mazhor, Albakheet, Albandary, Alyounes, Banan, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane Bekar, Basak, A. Nazli, Palvadeau, Robin, Trabzuni, Daniah, Rosenfeld, Jill A., Karimiani, Ehsan Ghayoor, Meyer, Brian F., Karakas, Bedri, Al-Mohanna, Futwan, Arold, Stefan T., Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida M., Schmidts, Miriam, Barakat, Tahsin Stefan, Van Ham, Tjakko J., Kaya, Namik

المصدر: Sanderson , L E , Lanko , K , Alsagob , M , Almass , R , Al-Ahmadi , N , Najafi , M , Al-Muhaizea , M A , Alzaidan , H , Aldhalaan , H , Perenthaler , E , Van Der Linde , H C , Nikoncuk , A , Kühn , N A , Antony , D , Owaidah , T M , Raskin , S , Vieira , L G D R , Mombach , R , Ahangari , N , Silveira , T R D , Ameziane , N , Rolfs , A ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/e4916caa-5909-4a69-8c0c-11eb8621c0a0
https://doi.org/10.1093/brain/awaa459
https://pure.eur.nl/ws/files/54169511/awaa459.pdf
http://www.scopus.com/inward/record.url?scp=85104275765&partnerID=8YFLogxK

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5

Academic Journal

Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease

المؤلفون: Sofou, Kalliopi, Meier, Kolja, Sanderson, Leslie E., Kaminski, Debora, Montoliu-Gaya, Laia, Samuelsson, Emma, Blomqvist, Maria, Agholme, Lotta, Gärtner, Jutta, Mühlhausen, Chris, Darin, Niklas, Barakat, Tahsin Stefan, Schlotawa, Lars, van Ham, Tjakko, Asin Cayuela, Jorge, Sterky, Fredrik H.

المصدر: Sofou , K , Meier , K , Sanderson , L E , Kaminski , D , Montoliu-Gaya , L , Samuelsson , E , Blomqvist , M , Agholme , L , Gärtner , J , Mühlhausen , C , Darin , N , Barakat , T S , Schlotawa , L , van Ham , T , Asin Cayuela , J & Sterky , F H 2021 , ' Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease ' , EMBO Molecular Medicine , vol. 13 , no. 5 , e13376 . https://doi.org/10.15252/emmm.202013376

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/dec081c4-eadd-4969-9f07-47536b6b2f98
https://doi.org/10.15252/emmm.202013376
https://pure.eur.nl/ws/files/52948400/EMBO_Mol_Med_2021_Sofou_Bi_allelic_VPS16_variants_limit_HOPS_CORVET_levels_and_cause_a_mucopolysaccharidosis_like.pdf
http://www.scopus.com/inward/record.url?scp=85104959952&partnerID=8YFLogxK

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6

Conference

Bi-allelic variants in HOPS subunit VPS41 cause cerebellar ataxia and point to differential lysosomal dysregulation in brain cell types

المؤلفون: Sanderson, Leslie E., Lanko, Kristina, Alsagob, Maysoon, AlMass, Rawan, Al-Ahmady, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad, Alzaidan, Hamad, Aldhalaan, Hesham, Perenthaler, Elena, van der Linde, Herma C., Nikoncuk, Anita, Kuhn, Nikolas, Antony, Dinu, Owaidah, Tarek, Raskin, Salmo, Vieira, Luana, Mombach, Romulo, Ahangari, Najmeh, Silveira, Taina, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda, AlAhmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, AlHargan, Aljouhra, Albader, Anoud, Binhumaid, Faisal, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane, Basak, Nazli A., Palvadeau, Robin, Rosenfeld, Jill, Trabzuni, Daniah, Karimiani, Ehsan, Meyer, Brian, Karakac, Bedri, Al-Mohanna, Futwan, Arold, Stefan T., Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida, Schmidts, Miriam, Barakat, Tahsin S., van Ham, Tjakko, Kaya, Namik

المساهمون: Bioengineering Program, Bioscience Program, Computational Bioscience Research Center (CBRC), King Abdullah Univ Sci & Technol, Computat Biosci Res Ctr, Thuwal, Saudi Arabia, Structural Biology and Engineering

Relation: SUPPL 1; 304-304; http://hdl.handle.net/10754/679571; 30; WOS:000779367701260

الاتاحة: http://hdl.handle.net/10754/679571

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7

Academic Journal

Blocking fatty acid-fueled mROS production within macrophages alleviates acute gouty inflammation

المؤلفون: Hall, Christopher J., Sanderson, Leslie E., Lawrence, Lisa M., Pool, Bregina, Van Der Kroef, Maarten, Ashimbayeva, Elina, Britto, Denver, Harper, Jacquie L., Lieschke, Graham J., Astin, Jonathan W., Crosier, Kathryn E., Dalbeth, Nicola, Crosier, Philip S.

المصدر: Hall , C J , Sanderson , L E , Lawrence , L M , Pool , B , Van Der Kroef , M , Ashimbayeva , E , Britto , D , Harper , J L , Lieschke , G J , Astin , J W , Crosier , K E , Dalbeth , N & Crosier , P S 2018 , ' Blocking fatty acid-fueled mROS production within macrophages alleviates acute gouty inflammation ' , The Journal of Clinical Investigation , vol. 128 , no. 5 , pp. 1752-1771 . https://doi.org/10.1172/JCI94584

وصف الملف: application/pdf

الاتاحة: https://research.monash.edu/en/publications/54b7de36-e8a7-4bb0-a223-849536bd94c2
https://doi.org/10.1172/JCI94584
https://researchmgt.monash.edu/ws/files/294511205/242134415_oa.pdf
http://www.scopus.com/inward/record.url?scp=85046468276&partnerID=8YFLogxK

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