المؤلفون: Schottlaender L. V., Abeti R., Jaunmuktane Z., Macmillan C., Chelban V., O'Callaghan B., McKinley J., Maroofian R., Efthymiou S., Athanasiou-Fragkouli A., Forbes R., Soutar M. P. M., Livingston J. H., Kalmar B., Swayne O., Hotton G., Groppa S., Karashova B. M., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Di Rosa G., Goraya J. S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M. D., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A. M., Garavaglia B., Borgione E., Portaro S., Sanchez B. M., Boles R., Papacostas S., Vikelis M., Papanicolaou E. Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N. N., Atawneh O., Koutsis G., Breza M., Mangano S., Scuderi C., Morello G., Stojkovic T., Zollo M., Heimer G., Dauvilliers Y. A., Striano P., Al-Khawaja I., Al-Mutairi F., Sherifa H., Pittman A., Mendes de Oliveira J. R., de Grandis M., Richard-Loendt A., Launchbury F., Althonayan J., McDonnell G., Carr A., Khan S., Beetz C., Bisgin A., Tug Bozdogan S., Begtrup A., Torti E., Greensmith L., Giunti P., Morrison P. J., Brandner S., Aurrand-Lions M., Houlden H.

المساهمون: Schottlaender L.V., Abeti R., Jaunmuktane Z., Macmillan C., Chelban V., O'Callaghan B., McKinley J., Maroofian R., Efthymiou S., Athanasiou-Fragkouli A., Forbes R., Soutar M.P.M., Livingston J.H., Kalmar B., Swayne O., Hotton G., Groppa S., Karashova B.M., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Di Rosa G., Goraya J.S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M.D., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A.M., Garavaglia B., Borgione E., Portaro S., Sanchez B.M., Boles R., Papacostas S., Vikelis M., Papanicolaou E.Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N.N., Atawneh O., Koutsis G., Breza M., Mangano S., Scuderi C., Morello G., Stojkovic T., Zollo M., Heimer G., Dauvilliers Y.A., Striano P., Al-Khawaja I., Al-Mutairi F., Sherifa H., Pittman A., Mendes de Oliveira J.R., de Grandis M., Richard-Loendt A., Launchbury F., Althonayan J., McDonnell G., Carr A., Khan S., Beetz C., Bisgin A., Tug Bozdogan S., Begtrup A., Torti E., Greensmith L., Giunti P., Morrison P.J., Brandner S., Aurrand-Lions M., Houlden H.

مصطلحات موضوعية: Fahr disease, familial idiopathic basal ganglia calcification, JAM2, JAM3, knock out mouse model, MYORG, OCLN, primary familial brain calcification, recessive brain calcification, SLC20A2

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32142645; info:eu-repo/semantics/altIdentifier/wos/WOS:000519101800017; volume:106; issue:3; firstpage:412; lastpage:421; numberofpages:10; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/10447/407084Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85080107983

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.02.007Test
http://hdl.handle.net/10447/407084Test

المؤلفون: Schottlaender, Lucia, Abeti, Rosella, Jaunmuktane, Zane, Macmillan, Carol, Chelban, Viorica, O’callaghan, Benjamin, Mckinley, John, Maroofian, Reza, Efthymiou, Stephanie, Athanasiou-Fragkouli, Alkyoni, Forbes, Raeburn, Soutar, Marc P.M., Livingston, John, Kalmar, Bernardett, Swayne, Orlando, Hotton, Gary, Pittman, Alan, Mendes de Oliveira, João Ricardo, de Grandis, Maria, Richard-Loendt, Angela, Launchbury, Francesca, Althonayan, Juri, Mcdonnell, Gavin, Carr, Aisling, Khan, Suliman, Beetz, Christian, Bisgin, Atil, Tug Bozdogan, Sevcan, Begtrup, Amber, Torti, Erin, Greensmith, Linda, Giunti, Paola, Morrison, Patrick, Brandner, Sebastian, Aurrand-Lions, Michel, Houlden, Henry

المساهمون: UCL Institute of Neurology, Queen Square London, University of Chicago, Mater Misericordiae University Hospital (The Mater Hospital), Craigavon Area Hospital, Leeds Teaching Hospitals NHS Trust, Universidade Federal de Pernambuco Recife (UFPE), Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes (IPC), Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Royal Victoria Hospital, McGill University Health Center Montreal (MUHC), CENTOGENE AG, Cukurova University, GeneDx Gaithersburg, MD, USA, Centre for Cancer Research and Cell Biology, Queen's University Belfast (QUB), University College London Hospitals (UCLH)

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: primary familial brain calcification, Fahr disease, JAM2, recessive brain calcification, knock out mouse model, familial idiopathic basal ganglia calcification, MYORG, SLC20A2, JAM3, OCLN, [SDV]Life Sciences [q-bio]

العلاقة: hal-03155754; https://hal.science/hal-03155754Test; https://hal.science/hal-03155754/documentTest; https://hal.science/hal-03155754/file/main%283%29.pdfTest; PUBMEDCENTRAL: PMC7058839

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.02.007Test
https://hal.science/hal-03155754Test
https://hal.science/hal-03155754/documentTest
https://hal.science/hal-03155754/file/main%283%29.pdfTest

المؤلفون: Schottlaender L. V., Abeti R., Jaunmuktane Z., Macmillan C., Chelban V., O'Callaghan B., McKinley J., Maroofian R., Efthymiou S., Athanasiou-Fragkouli A., Forbes R., Soutar M. P. M., Livingston J. H., Kalmar B., Swayne O., Hotton G., Groppa S., Karashova B. M., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Di Rosa G., Goraya J. S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M. D., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A. M., Garavaglia B., Borgione E., Portaro S., Sanchez B. M., Boles R., Papacostas S., Vikelis M., Papanicolaou E. Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N. N., Atawneh O., Koutsis G., Breza M., Mangano S., Scuderi C., Morello G., Stojkovic T., Zollo M., Heimer G., Dauvilliers Y. A., Striano P., Al-Khawaja I., Al-Mutairi F., Sherifa H., Pittman A., Mendes de Oliveira J. R., de Grandis M., Richard-Loendt A., Launchbury F., Althonayan J., McDonnell G., Carr A., Khan S., Beetz C., Bisgin A., Tug Bozdogan S., Begtrup A., Torti E., Greensmith L., Giunti P., Morrison P. J., Brandner S., Aurrand-Lions M., Houlden H.

المساهمون: L.V. Schottlaender, R. Abeti, Z. Jaunmuktane, C. Macmillan, V. Chelban, B. O'Callaghan, J. Mckinley, R. Maroofian, S. Efthymiou, A. Athanasiou-Fragkouli, R. Forbe, M.P.M. Soutar, J.H. Livingston, B. Kalmar, O. Swayne, G. Hotton, S. Groppa, B.M. Karashova, W. Nachbauer, S. Boesch, L. Arning, D. Timmann, B. Cormand, B. Perez-Duena, G. Di Rosa, J.S. Goraya, T. Sultan, J. Mine, D. Avdjieva, H. Kathom, R. Tincheva, S. Banu, M. Pineda-Marfa, P. Veggiotti, M.D. Ferrari, A. Verrotti, G. Marseglia, S. Savasta, M. Garcia-Silva, A.M. Ruiz, B. Garavaglia, E. Borgione, S. Portaro, B.M. Sanchez, R. Bole, S. Papacosta, M. Vikeli, E.Z. Papanicolaou, E. Dardioti, S. Maqbool, S. Ibrahim, S. Kirmani, N.N. Rana, O. Atawneh, G. Koutsi, M. Breza, S. Mangano, C. Scuderi, G. Morello, T. Stojkovic, M. Zollo, G. Heimer, Y.A. Dauvillier, P. Striano, I. Al-Khawaja, F. Al-Mutairi, H. Sherifa, A. Pittman, J.R. Mendes de Oliveira, M. de Grandi, A. Richard-Loendt, F. Launchbury, J. Althonayan, G. Mcdonnell, A. Carr, S. Khan, C. Beetz, A. Bisgin, S. Tug Bozdogan, A. Begtrup, E. Torti, L. Greensmith, P. Giunti, P.J. Morrison, S. Brandner, M. Aurrand-Lion, H. Houlden

مصطلحات موضوعية: Fahr disease, familial idiopathic basal ganglia calcification, JAM2, JAM3, knock out mouse model, MYORG, OCLN, primary familial brain calcification, recessive brain calcification, SLC20A2, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32142645; info:eu-repo/semantics/altIdentifier/wos/WOS:000519101800017; volume:106; issue:3; firstpage:412; lastpage:421; numberofpages:10; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/719642Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85080107983

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.02.007Test
http://hdl.handle.net/2434/719642Test

المؤلفون: Schottlaender, Lucia, Abeti, Rosella, Jaunmuktane, Zane, Macmillan, Carol, Chelban, Viorica, O’callaghan, Benjamin, Mckinley, John, Maroofian, Reza, Efthymiou, Stephanie, Athanasiou-Fragkouli, Alkyoni, Forbes, Raeburn, Soutar, Marc P.M., Livingston, John, Kalmar, Bernardett, Swayne, Orlando, Hotton, Gary, Pittman, Alan, Mendes de Oliveira, João Ricardo, de Grandis, Maria, Richard-Loendt, Angela, Launchbury, Francesca, Althonayan, Juri, Mcdonnell, Gavin, Carr, Aisling, Khan, Suliman, Beetz, Christian, Bisgin, Atil, Tug Bozdogan, Sevcan, Begtrup, Amber, Torti, Erin, Greensmith, Linda, Giunti, Paola, Morrison, Patrick, Brandner, Sebastian, Aurrand-Lions, Michel, Houlden, Henry

المساهمون: UCL Institute of Neurology, Queen Square London, University of Chicago, Mater Misericordiae University Hospital (The Mater Hospital), Craigavon Area Hospital, Leeds Teaching Hospitals NHS Trust, Universidade Federal de Pernambuco Recife (UFPE), Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes (IPC), Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Royal Victoria Hospital, McGill University Health Center Montreal (MUHC), CENTOGENE AG, Cukurova University, GeneDx Gaithersburg, MD, USA, Centre for Cancer Research and Cell Biology, Queen's University Belfast (QUB), University College London Hospitals (UCLH)

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: primary familial brain calcification, Fahr disease, JAM2, recessive brain calcification, knock out mouse model, familial idiopathic basal ganglia calcification, MYORG, SLC20A2, JAM3, OCLN, [SDV]Life Sciences [q-bio]

العلاقة: hal-03155754; https://hal.science/hal-03155754Test; https://hal.science/hal-03155754/documentTest; https://hal.science/hal-03155754/file/main%283%29.pdfTest; PUBMEDCENTRAL: PMC7058839

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.02.007Test
https://hal.science/hal-03155754Test
https://hal.science/hal-03155754/documentTest
https://hal.science/hal-03155754/file/main%283%29.pdfTest

المؤلفون: Schottlaender, LV, Abeti, R, Jaunmuktane, Z, Macmillan, C, Chelban, V, O'Callaghan, B, McKinley, J, Maroofian, R, Efthymiou, S, Athanasiou-Fragkouli, A, Forbes, R, Soutar, MPM, Livingston, JH, Kalmar, B, Swayne, O, Hotton, G, SYNAPS Study Group, Pittman, A, Mendes de Oliveira, JR, de Grandis, M, Richard-Loendt, A, Launchbury, F, Althonayan, J, McDonnell, G, Carr, A, Khan, S, Beetz, C, Bisgin, A, Tug Bozdogan, S, Begtrup, A, Torti, E, Greensmith, L, Giunti, P, Morrison, PJ, Brandner, S, Aurrand-Lions, M, Houlden, H

المصدر: AJHG , 106 (3) pp. 412-421. (2020)

مصطلحات موضوعية: Fahr disease, JAM2, JAM3, MYORG, OCLN, SLC20A2, familial idiopathic basal ganglia calcification, knock out mouse model, primary familial brain calcification, recessive brain calcification

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10093228/14/Brandner_1-s2.0-S0002929720300495-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10093228Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10093228/14/Brandner_1-s2.0-S0002929720300495-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10093228Test/

المؤلفون: Schottlaender, Lucia, Abeti, Rosella, Jaunmuktane, Zane, Macmillan, Carol, Chelban, Viorica, O’callaghan, Benjamin, Mckinley, John, Maroofian, Reza, Efthymiou, Stephanie, Athanasiou-Fragkouli, Alkyoni, Forbes, Raeburn, Soutar, Marc P.M., Livingston, John, Kalmar, Bernardett, Swayne, Orlando, Hotton, Gary, Pittman, Alan, Mendes de Oliveira, João Ricardo, de Grandis, Maria, Richard-Loendt, Angela, Launchbury, Francesca, Althonayan, Juri, Mcdonnell, Gavin, Carr, Aisling, Khan, Suliman, Beetz, Christian, Bisgin, Atil, Tug Bozdogan, Sevcan, Begtrup, Amber, Torti, Erin, Greensmith, Linda, Giunti, Paola, Morrison, Patrick, Brandner, Sebastian, Aurrand-Lions, Michel, Houlden, Henry

المساهمون: UCL Institute of Neurology, Queen Square London, University of Chicago, Mater Misericordiae University Hospital (The Mater Hospital), Craigavon Area Hospital, Leeds Teaching Hospitals NHS Trust, Universidade Federal de Pernambuco Recife (UFPE), Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes (IPC), Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Royal Victoria Hospital, McGill University Health Center Montreal (MUHC), CENTOGENE AG, Cukurova University, GeneDx Gaithersburg, MD, USA, Centre for Cancer Research and Cell Biology, Queen's University Belfast (QUB), University College London Hospitals (UCLH)

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: primary familial brain calcification, Fahr disease, JAM2, recessive brain calcification, knock out mouse model, familial idiopathic basal ganglia calcification, MYORG, SLC20A2, JAM3, OCLN, [SDV]Life Sciences [q-bio]

العلاقة: hal-03155754; https://hal.science/hal-03155754Test; https://hal.science/hal-03155754/documentTest; https://hal.science/hal-03155754/file/main%283%29.pdfTest; PUBMEDCENTRAL: PMC7058839

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.02.007Test
https://hal.science/hal-03155754Test
https://hal.science/hal-03155754/documentTest
https://hal.science/hal-03155754/file/main%283%29.pdfTest

المؤلفون: Schottlaender L. V., Abeti R., Jaunmuktane Z., Macmillan C., Chelban V., O'Callaghan B., McKinley J., Maroofian R., Efthymiou S., Athanasiou-Fragkouli A., Forbes R., Soutar M. P. M., Livingston J. H., Kalmar B., Swayne O., Hotton G., Groppa S., Karashova B. M., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Di Rosa G., Goraya J. S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M. D., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A. M., Garavaglia B., Borgione E., Portaro S., Sanchez B. M., Boles R., Papacostas S., Vikelis M., Papanicolaou E. Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N. N., Atawneh O., Koutsis G., Breza M., Mangano S., Scuderi C., Morello G., Stojkovic T., Zollo M., Heimer G., Dauvilliers Y. A., Striano P., Al-Khawaja I., Al-Mutairi F., Sherifa H., Pittman A., Mendes de Oliveira J. R., de Grandis M., Richard-Loendt A., Launchbury F., Althonayan J., McDonnell G., Carr A., Khan S., Beetz C., Bisgin A., Tug Bozdogan S., Begtrup A., Torti E., Greensmith L., Giunti P., Morrison P. J., Brandner S., Aurrand-Lions M., Houlden H.

المساهمون: Schottlaender, L. V., Abeti, R., Jaunmuktane, Z., Macmillan, C., Chelban, V., O'Callaghan, B., Mckinley, J., Maroofian, R., Efthymiou, S., Athanasiou-Fragkouli, A., Forbes, R., Soutar, M. P. M., Livingston, J. H., Kalmar, B., Swayne, O., Hotton, G., Groppa, S., Karashova, B. M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Di Rosa, G., Goraya, J. S., Sultan, T., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M. D., Verrotti, A., Marseglia, G., Savasta, S., Garcia-Silva, M., Ruiz, A. M., Garavaglia, B., Borgione, E., Portaro, S., Sanchez, B. M., Boles, R., Papacostas, S., Vikelis, M., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y. A., Striano, P., Al-Khawaja, I., Al-Mutairi, F., Sherifa, H., Pittman, A., Mendes de Oliveira, J. R., de Grandis, M., Richard-Loendt, A., Launchbury, F., Althonayan, J., Mcdonnell, G., Carr, A., Khan, S., Beetz, C., Bisgin, A., Tug Bozdogan, S., Begtrup, A., Torti, E., Greensmith, L., Giunti, P., Morrison, P. J., Brandner, S., Aurrand-Lions, M., Houlden, H.

مصطلحات موضوعية: Fahr disease, familial idiopathic basal ganglia calcification, JAM2, JAM3, knock out mouse model, MYORG, OCLN, primary familial brain calcification, recessive brain calcification, SLC20A2, Adolescent, Adult, Animal, Brain Disease, Calcinosi, Cell Adhesion Molecule, Child, Female, Human, Male, Mice, Middle Aged, Pedigree, Age of Onset, Allele, Genes, Recessive

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32142645; info:eu-repo/semantics/altIdentifier/wos/WOS:000519101800017; volume:106; issue:3; firstpage:412; lastpage:421; numberofpages:10; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11571/1344478Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85080107983

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.02.007Test
http://hdl.handle.net/11571/1344478Test

المؤلفون: Schottlaender L. V., Abeti R., Jaunmuktane Z., Macmillan C., Chelban V., O'Callaghan B., McKinley J., Maroofian R., Efthymiou S., Athanasiou-Fragkouli A., Forbes R., Soutar M. P. M., Livingston J. H., Kalmar B., Swayne O., Hotton G., Synaps Study group., Aguennouz M., Groppa S., Karashova B. M., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Di Rosa G., Goraya J. S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M. D., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A. M., Garavaglia B., Borgione E., Portaro S., Sanchez B. M., Boles R., Papacostas S., Vikelis M., Papanicolaou E. Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N. N., Atawneh O., Koutsis G., Breza M., Mangano S., Scuderi C., Morello G., Stojkovic T., Zollo M., Heimer G., Dauvilliers Y. A., Striano P., Al-Khawaja I., Al-Mutairi F., Sherifa H., Pittman A., Mendes de Oliveira J. R., de Grandis M., Richard-Loendt A., Launchbury F., Althonayan J., McDonnell G., Carr A., Khan S., Beetz C., Bisgin A., Tug Bozdogan S., Begtrup A., Torti E., Greensmith L., Giunti P., Morrison P. J., Brandner S., Aurrand-Lions M., Houlden H.

المساهمون: Schottlaender, L. V., Abeti, R., Jaunmuktane, Z., Macmillan, C., Chelban, V., O'Callaghan, B., Mckinley, J., Maroofian, R., Efthymiou, S., Athanasiou-Fragkouli, A., Forbes, R., Soutar, M. P. M., Livingston, J. H., Kalmar, B., Swayne, O., Hotton, G., Synaps Study, Group., Aguennouz, M., Groppa, S., Karashova, B. M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Di Rosa, G., Goraya, J. S., Sultan, T., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M. D., Verrotti, A., Marseglia, G., Savasta, S., Garcia-Silva, M., Ruiz, A. M., Garavaglia, B., Borgione, E., Portaro, S., Sanchez, B. M., Boles, R., Papacostas, S., Vikelis, M., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y. A., Striano, P., Al-Khawaja, I., Al-Mutairi, F., Sherifa, H., Pittman, A., Mendes de Oliveira, J. R., de Grandis, M., Richard-Loendt, A., Launchbury, F., Althonayan, J., Mcdonnell, G., Carr, A., Khan, S., Beetz, C., Bisgin, A., Tug Bozdogan, S., Begtrup, A., Torti, E., Greensmith, L., Giunti, P., Morrison, P. J., Brandner, S., Aurrand-Lions, M., Houlden, H.

مصطلحات موضوعية: Fahr disease, familial idiopathic basal ganglia calcification, JAM2, JAM3, knock out mouse model, MYORG, OCLN, primary familial brain calcification, recessive brain calcification, SLC20A2

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32142645; info:eu-repo/semantics/altIdentifier/wos/WOS:000519101800017; volume:106; issue:3; firstpage:412; lastpage:421; numberofpages:10; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11570/3151786Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85080107983

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.02.007Test
http://hdl.handle.net/11570/3151786Test

المؤلفون: Schottlaender L. V., Abeti R., Jaunmuktane Z., Macmillan C., Chelban V., O'Callaghan B., McKinley J., Maroofian R., Efthymiou S., Athanasiou-Fragkouli A., Forbes R., Soutar M. P. M., Livingston J. H., Kalmar B., Swayne O., Hotton G., Groppa S., Karashova B. M., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Di Rosa G., Goraya J. S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M. D., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A. M., Garavaglia B., Borgione E., Portaro S., Sanchez B. M., Boles R., Papacostas S., Vikelis M., Papanicolaou E. Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N. N., Atawneh O., Koutsis G., Breza M., Mangano S., Scuderi C., Morello G., Stojkovic T., Zollo M., Heimer G., Dauvilliers Y. A., Striano P., Al-Khawaja I., Al-Mutairi F., Sherifa H., Pittman A., Mendes de Oliveira J. R., de Grandis M., Richard-Loendt A., Launchbury F., Althonayan J., McDonnell G., Carr A., Khan S., Beetz C., Bisgin A., Tug Bozdogan S., Begtrup A., Torti E., Greensmith L., Giunti P., Morrison P. J., Brandner S., Aurrand-Lions M., Houlden H.

المساهمون: Schottlaender, L. V., Abeti, R., Jaunmuktane, Z., Macmillan, C., Chelban, V., O'Callaghan, B., Mckinley, J., Maroofian, R., Efthymiou, S., Athanasiou-Fragkouli, A., Forbes, R., Soutar, M. P. M., Livingston, J. H., Kalmar, B., Swayne, O., Hotton, G., Groppa, S., Karashova, B. M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Di Rosa, G., Goraya, J. S., Sultan, T., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M. D., Verrotti, A., Marseglia, G., Savasta, S., Garcia-Silva, M., Ruiz, A. M., Garavaglia, B., Borgione, E., Portaro, S., Sanchez, B. M., Boles, R., Papacostas, S., Vikelis, M., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y. A., Striano, P., Al-Khawaja, I., Al-Mutairi, F., Sherifa, H., Pittman, A., Mendes de Oliveira, J. R., de Grandis, M., Richard-Loendt, A., Launchbury, F., Althonayan, J., Mcdonnell, G., Carr, A., Khan, S., Beetz, C., Bisgin, A., Tug Bozdogan, S., Begtrup, A., Torti, E., Greensmith, L., Giunti, P., Morrison, P. J., Brandner, S., Aurrand-Lions, M., Houlden, H.

مصطلحات موضوعية: Fahr disease, familial idiopathic basal ganglia calcification, JAM2, JAM3, knock out mouse model, MYORG, OCLN, primary familial brain calcification, recessive brain calcification, SLC20A2

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000519101800017; volume:106; firstpage:412; lastpage:421; numberofpages:10; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11567/1022013Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85080107983

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.02.007Test
http://hdl.handle.net/11567/1022013Test

المؤلفون: Schottlaender, Lucia V, Abeti, Rosella, Jaunmuktane, Zane, Macmillan, Carol, Chelban, Viorica, O'Callaghan, Benjamin, McKinley, John, Maroofian, Reza, Ibrahim, Shahnaz, Kirmani, Salman

المصدر: Department of Paediatrics and Child Health

مصطلحات موضوعية: Fahr disease, JAM2, JAM3, MYORG, OCLN, SLC20A2, Familial idiopathic basal ganglia calcification, knock out mouse model, Primary familial brain calcification, Recessive brain calcification, Genetics and Genomics, Life Sciences, Molecular Genetics, Neurology, Pediatrics

العلاقة: https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/1260Test; https://www.cell.com/ajhg/fulltext/S0002-9297Test(20)30049-5

الإتاحة: https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/1260Test
https://www.cell.com/ajhg/fulltext/S0002-9297Test(20)30049-5