المؤلفون: Basilico, B., Morandell, J., Novarino, G.

المساهمون: Basilico, B., Morandell, J., Novarino, G.

مصطلحات موضوعية: Autism, genetic, convergent mechanism, treatment

Relation: info:eu-repo/semantics/altIdentifier/pmid/32659636; info:eu-repo/semantics/altIdentifier/wos/WOS:000598918900019; volume:65; firstpage:126; lastpage:137; numberofpages:12; journal:CURRENT OPINION IN GENETICS & DEVELOPMENT; https://hdl.handle.net/11573/1695708; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85087681937

الاتاحة: https://hdl.handle.net/11573/1695708
https://doi.org/10.1016/j.gde.2020.06.004

المؤلفون: Weinert, S., Gimber, N., Deuschel, D., Stuhlmann, T., Puchkov, D., Farsi, Z., Ludwig, C.F., Novarino, G., López-Cayuqueo, K.I., Planells-Cases, R., Jentsch, T.J.

مصطلحات موضوعية: Cardiovascular and Metabolic Diseases, Function and Dysfunction of the Nervous System, Technology Platforms

وصف الملف: application/pdf; other

Relation: http://edoc.mdc-berlin.de/18768/1/18768oa.pdf; http://edoc.mdc-berlin.de/18768/7/18768suppl.zip; Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration. Weinert, S. and Gimber, N. and Deuschel, D. and Stuhlmann, T. and Puchkov, D. and Farsi, Z. and Ludwig, C.F. and Novarino, G. and López-Cayuqueo, K.I. and Planells-Cases, R. and Jentsch, T.J. EMBO Journal 39 (9): e103358. 4 May 2020

الاتاحة: http://edoc.mdc-berlin.de/18768/
https://edoc.mdc-berlin.de/18768/
http://edoc.mdc-berlin.de/18768/1/18768oa.pdf
http://edoc.mdc-berlin.de/18768/7/18768suppl.zip
https://doi.org/10.15252/embj.2019103358

المؤلفون: Novarino, G, Lucas, I A N, Morrall, S

المساهمون: BioStor

المصدر: 15:87-107

URL الوصول: https://www.biodiversitylibrary.org/part/309396

المؤلفون: Novarino, G, Muftah, A R

المساهمون: BioStor

المصدر: 13:169-179

URL الوصول: https://www.biodiversitylibrary.org/part/309347

المؤلفون: Guerrini, R., Mei, D., Kerti-Szigeti, K., Pepe, S., Koenig, M. K., Von Allmen, G., Cho, M. T., Mcdonald, K., Baker, J., Bhambhani, V., Powis, Z., Rodan, L., Nabbout, R., Barcia, G., Rosenfeld, J. A., Bacino, C. A., Mignot, C., Power, L. H., Harris, C. J., Marjanovic, D., Møller, R. S., Hammer, T. B., Keski Filppula, R., Vieira, P., Hildebrandt, C., Sacharow, S., Maragliano, L., Benfenati, F., Lachlan, K., Benneche, A., Petit, Florence, De Sainte Agathe, J. M., Hallinan, B., Si, Y., Wentzensen, I. M., Zou, F., Narayanan, V., Matsumoto, N., Boncristiano, A., La Marca, G., Kato, M., Anderson, K., Barba, C., Sturiale, L., Garozzo, D., Bei, R., Masuelli, L., Conti, V., Novarino, G., Fassio, A.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

مصطلحات موضوعية: epileptic encephalopathy, lysosomal disorder, progressive brain atrophy, developmental delay

وصف الملف: application/octet-stream

Relation: Brain; http://hdl.handle.net/20.500.12210/84149

الاتاحة: https://hdl.handle.net/20.500.12210/84149

المؤلفون: Schumann, G., Andreassen, O.A., Banaschewski, T., Calhoun, V.D., Clinton, N., Desrivieres, S., Brandlistuen, R.E., Feng, J., Hese, S., Hitchen, E., Hoffmann, P., Jia, T., Jirsa, V., Marquand, A.F., Nees, F., Nöthen, M.M., Novarino, G., Polemiti, E., Ralser, M., Rapp, M., Schepanski, K., Schikowski, T., Slater, M., Sommer, P., Stahl, B.C., Thompson, P.M., Twardziok, S., Meer, D. van der, Walter, H., Westlye, L.

المصدر: JAMA Psychiatry, 80, 10, pp. 1066-1074

مصطلحات موضوعية: 220 Statistical Imaging Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl/handle/2066/302450

الاتاحة: https://repository.ubn.ru.nl/handle/2066/302450
https://doi.org/10.1001/jamapsychiatry.2023.2996

المؤلفون: Guerrini, R, Mei, D, Kerti-Szigeti, K, Pepe, S, Koenig, MK, Von Allmen, G, Cho, MT, McDonald, K, Baker, J, Bhambhani, V, Powis, Z, Rodan, L, Nabbout, R, Barcia, G, Rosenfeld, JA, Bacino, CA, Mignot, C, Power, LH, Harris, CJ, Marjanovic, D, Moller, RS, Hammer, TB, Filppula, RK, Vieira, P, Hildebrandt, C, Sacharow, S, Maragliano, L, Benfenati, F, Lachlan, K, Benneche, A, Petit, F, de Sainte Agathe, JM, Hallinan, B, Si, Y, Wentzensen, IM, Zou, FG, Narayanan, V, Matsumoto, N, Boncristiano, A, la Marca, G, Kato, M, Anderson, K, Barba, C, Sturiale, L, Garozzo, D, Bei, R, Masuelli, L, Conti, V, Novarino, G, Fassio, A

المساهمون: Guerrini, R, Mei, D, Kerti-Szigeti, K, Pepe, S, Koenig, M, Von Allmen, G, Cho, M, Mcdonald, K, Baker, J, Bhambhani, V, Powis, Z, Rodan, L, Nabbout, R, Barcia, G, Rosenfeld, J, Bacino, C, Mignot, C, Power, L, Harris, C, Marjanovic, D, Moller, R, Hammer, T, Filppula, R, Vieira, P, Hildebrandt, C, Sacharow, S, Maragliano, L, Benfenati, F, Lachlan, K, Benneche, A, Petit, F, de Sainte Agathe, J, Hallinan, B, Si, Y, Wentzensen, I, Zou, F, Narayanan, V, Matsumoto, N, Boncristiano, A, la Marca, G, Kato, M, Anderson, K, Barba, C, Sturiale, L, Garozzo, D, Bei, R, Masuelli, L, Conti, V, Novarino, G, Fassio, A

مصطلحات موضوعية: epileptic encephalopathy, lysosomal disorder, progressive brain atrophy, developmental delay, Adenosine Triphosphate, Atrophy, Child, Homeostasis, Humans, Infant, Lysosomes, Phenotype, Brain Diseases, Epilepsy, Intellectual Disability, Spasms, Infantile, Vacuolar Proton-Translocating ATPases, Settore MED/04 - PATOLOGIA GENERALE, Settore MED/26 - NEUROLOGIA

Relation: info:eu-repo/semantics/altIdentifier/pmid/35675510; info:eu-repo/semantics/altIdentifier/wos/WOS:000807770000001; volume:145; issue:8; firstpage:2687; lastpage:2703; numberofpages:17; journal:BRAIN; https://hdl.handle.net/2108/308735; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85142145538

الاتاحة: https://hdl.handle.net/2108/308735
https://doi.org/10.1093/brain/awac145

المؤلفون: Jago, C. F., Kennaway, G. M., Novarino, G., Jones, S. E.

المصدر: Marine Ecology Progress Series, 2007 Sep . 345, 51-62.

URL الوصول: https://www.jstor.org/stable/24871478

المؤلفون: Villa CE, Cheroni C, Dotter CP, López-Tóbon A, Oliveira B, Sacco R, Yahya AÇ, Morandell J, Gabriele M, Tavakoli MR, Lyudchik J, Sommer C, Gabitto M, Danzl JG, Testa G*, Novarino G*.

المصدر: Cell Reports

URL الوصول: https://explore.openaire.eu/search/publication?articleId=r3c4b2081b22::327534b3612d1969b9387c94958ec6bc

المؤلفون: Guerrini, R. (Renzo), Mei, D. (Davide), Kerti-Szigeti, K. (Katalin), Pepe, S. (Sara), Koenig, M. K. (Mary Kay), Von Allmen, G. (Gretchen), Cho, M. T. (Megan T), McDonald, K. (Kimberly), Baker, J. (Janice), Bhambhani, V. (Vikas), Powis, Z. (Zöe), Rodan, L. (Lance), Nabbout, R. (Rima), Barcia, G. (Giulia), Rosenfeld, J. A. (Jill A), Bacino, C. A. (Carlos A), Mignot, C. (Cyril), Power, L. H. (Lillian H), Harris, C. J. (Catharine J), Marjanovic, D. (Dragan), Møller, R. S. (Rikke S), Hammer, T. B. (Trine B), T. D. (The DDD Study), Keski Filppula, R. (Riikka), Vieira, P. (Päivi), Hildebrandt, C. (Clara), Sacharow, S. (Stephanie), U. D. (Undiagnosed Diseases Network), Maragliano, L. (Luca), Benfenati, F. (Fabio), Lachlan, K. (Katherine), Benneche, A. (Andreas), Petit, F. (Florence), de Sainte Agathe, J. M. (Jean Madeleine), Hallinan, B. (Barbara), Si, Y. (Yue), Wentzensen, I. M. (Ingrid M), Zou, F. (Fanggeng), Narayanan, V. (Vinodh), Matsumoto, N. (Naomichi), Boncristiano, A. (Alessandra), la Marca, G. (Giancarlo), Kato, M. (Mitsuhiro), Anderson, K. (Kristin), Barba, C. (Carmen), Sturiale, L. (Luisa), Garozzo, D. (Domenico), Bei, R. (Roberto), A. c. (ATP6V1A collaborators), Masuelli, L. (Laura), Conti, V. (Valerio), Novarino, G. (Gaia), Fassio, A. (Anna)

مصطلحات موضوعية: developmental delay, epileptic encephalopathy, lysosomal disorder, ATP6V1A, progressive brain atrophy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2423::3d87197087e6ddb6b11e6edcbbf5ae62
http://urn.fi/urn:nbn:fi-fe2023022728799

المؤلفون: Bouslam, N, Kayserili, H, Al-Aama, JY, Abdel-Salam, GMH, Silhavy, JL, Mansour, L, Scott, E, Karminejad, A, Kara, M, Bozorgmehri, B, Ben-Omran, T, Mojahedi, F, El, Din, Bouhouche, A, Benomar, A, Mascaro, M, Selim, L, Kara, BÜLENT, Rosti, B, Shehata, N, Al-Allawi, N, Bindu, PS, Azam, M, Gunel, M, Caglayan, A, Bilguvar, K, Tolun, A, Issa, MY, Schroth, J, Spencer, EG, Novarino, G, Fenstermaker, AG, Zaki, MS, Hofree, M, Heiberg, AD, Abdellateef, M, Ideker, T, Gabriel, SB, Rosti, RO, Stevanin, G, Brice, A, Durr, A, Megahed, H, Koh, AA, Johansen, A, Vaux, KK, Akizu, N, Hanein, S, Masri, A, Raymond, L, Gleeson, JG, Forlani, S

Relation: ae69e19e-676d-4a2a-819a-be1fd9d866de; https://avesis.kocaeli.edu.tr/publication/details/ae69e19e-676d-4a2a-819a-be1fd9d866de/oai

الاتاحة: https://doi.org/10.1126/science.1247363
https://avesis.kocaeli.edu.tr/publication/details/ae69e19e-676d-4a2a-819a-be1fd9d866de/oai

المؤلفون: Boenigk, J., Pfandl, K., Garstecki, T., Harms, Hauke, Novarino, G., Chatzinotas, Antonis

المصدر: ISSN: 0099-2240.

وصف الملف: application/pdf

Relation: https://www.ufz.de/index.php?en=20939&ufzPublicationIdentifier=2518; https://dx.doi.org/10.1128/AEM.00601-06

الاتاحة: https://www.ufz.de/index.php?en=20939&ufzPublicationIdentifier=2518
https://doi.org/10.1128/AEM.00601-06

المؤلفون: Kinner, N. E., Harvey, R. W., Blakeslee, K., Novarino, G., Meeker, L. D.

المصدر: Applied and Environmental Microbiology ; volume 64, issue 2, page 618-625 ; ISSN 0099-2240 1098-5336

الاتاحة: http://dx.doi.org/10.1128/aem.64.2.618-625.1998
https://journals.asm.org/doi/pdf/10.1128/AEM.64.2.618-625.1998

المؤلفون: Morandell, J., Nicolas, A., Schwarz, L., Novarino, G.

المصدر: European Neuropsychopharmacology ; volume 29, page S11-S12 ; ISSN 0924-977X

الاتاحة: http://dx.doi.org/10.1016/j.euroneuro.2019.09.040
https://api.elsevier.com/content/article/PII:S0924977X19309149?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0924977X19309149?httpAccept=text/plain

المؤلفون: Knaus, L., Tarlungeanu, D., Novarino, G.

المصدر: European Neuropsychopharmacology ; volume 29, page S11 ; ISSN 0924-977X

الاتاحة: http://dx.doi.org/10.1016/j.euroneuro.2019.09.039
https://api.elsevier.com/content/article/PII:S0924977X19309137?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0924977X19309137?httpAccept=text/plain

المؤلفون: Morandell, J., Reinthaler, E.M., Novarino, G.

المصدر: European Neuropsychopharmacology ; volume 29, page S662-S663 ; ISSN 0924-977X

الاتاحة: http://dx.doi.org/10.1016/j.euroneuro.2019.01.042
https://api.elsevier.com/content/article/PII:S0924977X19300422?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0924977X19300422?httpAccept=text/plain

المؤلفون: Knaus, L., Tarlungeanu, D., Amberg, N., Novarino, G.

المصدر: European Neuropsychopharmacology ; volume 29, page S647 ; ISSN 0924-977X

الاتاحة: http://dx.doi.org/10.1016/j.euroneuro.2019.01.022
https://api.elsevier.com/content/article/PII:S0924977X19300227?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0924977X19300227?httpAccept=text/plain

المؤلفون: Novarino, G.

المصدر: European Neuropsychopharmacology ; volume 29, page S631-S632 ; ISSN 0924-977X

الاتاحة: http://dx.doi.org/10.1016/j.euroneuro.2019.01.002
https://api.elsevier.com/content/article/PII:S0924977X19300021?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0924977X19300021?httpAccept=text/plain

المؤلفون: Novarino, G., Mills, D.K., Hannah, F.

مصطلحات موضوعية: ORIGINAL ARTICLES

وصف الملف: text/html

Relation: http://plankt.oxfordjournals.org/cgi/content/short/19/8/1081; http://dx.doi.org/10.1093/plankt/19.8.1081

الاتاحة: http://plankt.oxfordjournals.org/cgi/content/short/19/8/1081
https://doi.org/10.1093/plankt/19.8.1081

المؤلفون: Novarino, G

المصدر: FEMS Microbiology Reviews ; volume 20, issue 3-4, page 261-275 ; ISSN 0168-6445

الاتاحة: http://dx.doi.org/10.1016/s0168-6445(97)00046-6
http://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1016%2FS0168-6445(97)00046-6