MORELLO, Giuseppe

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MORELLO, Giuseppe

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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

2020-01-01 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.

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

2019-01-01 Chelban, V(1)(2); Wilson, MP(3); Warman Chardon, J(4)(5)(6); Vandrovcova, J(1); Zanetti, MN(7); Zamba-Papanicolaou, E(8)(9); Efthymiou, S(1); Pope, S(10); Conte, MR(11); Abis, G(11); Liu, YT(12)(13)(14); Tribollet, E(1); Haridy, NA(1)(15); Botía, JA(16)(17); Ryten, M(16)(18); Nicolaou, P(8)(9); Minaidou, A(8)(9); Christodoulou, K(8)(9); Kernohan, KD(6)(19); Eaton, A(6); Osmond, M(6); Ito, Y(6); Bourque, P(4)(5); Jepson, JEC(7); Bello, O(7); Bremner, F(20); Cordivari, C(21); Reilly, MM(1); Foiani, M(21)(22); Heslegrave, A(22)(23); Zetterberg, H(22)(23)(24)(25); Heales, SJR(10); Wood, NW(1)(26); Rothman, JE(7)(27); Boycott, KM(6); Mills, PB(3); Clayton, PT(3); Houlden, H(1)(26); Care4Rare Canada Consortium and the SYNaPS Study Group(6)., Collaborators: Kriouile Y; Khorassani, Me; Aguennouz, M; Groppa, S; Marinova Karashova, B; Van Maldergem, L; Nachbauer, W; Boesch, S; Arning, L; Timmann, D; Cormand, B; Pérez-Dueñas, B; Di Rosa, G; Goraya, Js; Sultan, T; Mine, J; Avdjieva, D; Kathom, H; Tincheva, R; Banu, S; Pineda-Marfa, M; Veggiotti, P; Ferrari, Md; van den Maagdenberg, Amjm; Verrotti, A; Marseglia, G; Savasta, S; García-Silva, M; Ruiz, Am; Garavaglia, B; Borgione, E; Portaro, S; Sanchez, Bm; Boles, R; Papacostas, S; Vikelis, M; Rothman, J; Giunti, P; Houlden, H; Chelban, V; Salpietro, V; Oconnor, E; Efthymiou, S; Kullmann, D; Kaiyrzhanov, R; Sullivan, R; Khan, Am; Yau, Wy; Hostettler, I; Papanicolaou, Ez; Dardiotis, E; Maqbool, S; Ibrahim, S; Kirmani, S; Rana, Nn; Atawneh, O; Lim, Sy; Shaikh, F; Koutsis, G; Breza, M; Mangano, S; Scuderi, C; Borgione, E; Morello, G; Stojkovic, T; Torti, E; Zollo, M; Heimer, G; Dauvilliers, Ya; Striano, P; Al-Khawaja, I; Al-Mutairi, F; Alkuraya, Fs; Sherifa, H; Rizig, M; Okubadejo, Nu; Ojo, Oo; Oshinaike, Oo; Wahab, K; Bello, Ah; Abubakar, S; Obiabo, Y; Nwazor, E; Ekenze, O; Williams, U; Iyagba, A; Taiwo, L; Komolafe, M; Oguntunde, O; Pchelina, S; Senkevich, K; Haridy, N; Shashkin, C; Zharkynbekova, N; Koneyev, K; Manizha, G; Isrofilov, M; Guliyeva, U; Salayev, K; Khachatryan, S; Rossi, S; Silvestri, G; Bourinaris, T; Xiromerisiou, G; Fidani, L; Spanaki, C; Tucci, A.

Titolo	Data di pubblicazione	Autore(i)	File
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification	1-gen-2020	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.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.	1-gen-2019	Chelban, V(1)(2); Wilson, MP(3); Warman Chardon, J(4)(5)(6); Vandrovcova, J(1); Zanetti, MN(7); Zamba-Papanicolaou, E(8)(9); Efthymiou, S(1); Pope, S(10); Conte, MR(11); Abis, G(11); Liu, YT(12)(13)(14); Tribollet, E(1); Haridy, NA(1)(15); Botía, JA(16)(17); Ryten, M(16)(18); Nicolaou, P(8)(9); Minaidou, A(8)(9); Christodoulou, K(8)(9); Kernohan, KD(6)(19); Eaton, A(6); Osmond, M(6); Ito, Y(6); Bourque, P(4)(5); Jepson, JEC(7); Bello, O(7); Bremner, F(20); Cordivari, C(21); Reilly, MM(1); Foiani, M(21)(22); Heslegrave, A(22)(23); Zetterberg, H(22)(23)(24)(25); Heales, SJR(10); Wood, NW(1)(26); Rothman, JE(7)(27); Boycott, KM(6); Mills, PB(3); Clayton, PT(3); Houlden, H(1)(26); Care4Rare Canada Consortium and the SYNaPS Study Group(6)., Collaborators: Kriouile Y; Khorassani, Me; Aguennouz, M; Groppa, S; Marinova Karashova, B; Van Maldergem, L; Nachbauer, W; Boesch, S; Arning, L; Timmann, D; Cormand, B; Pérez-Dueñas, B; Di Rosa, G; Goraya, Js; Sultan, T; Mine, J; Avdjieva, D; Kathom, H; Tincheva, R; Banu, S; Pineda-Marfa, M; Veggiotti, P; Ferrari, Md; van den Maagdenberg, Amjm; Verrotti, A; Marseglia, G; Savasta, S; García-Silva, M; Ruiz, Am; Garavaglia, B; Borgione, E; Portaro, S; Sanchez, Bm; Boles, R; Papacostas, S; Vikelis, M; Rothman, J; Giunti, P; Houlden, H; Chelban, V; Salpietro, V; Oconnor, E; Efthymiou, S; Kullmann, D; Kaiyrzhanov, R; Sullivan, R; Khan, Am; Yau, Wy; Hostettler, I; Papanicolaou, Ez; Dardiotis, E; Maqbool, S; Ibrahim, S; Kirmani, S; Rana, Nn; Atawneh, O; Lim, Sy; Shaikh, F; Koutsis, G; Breza, M; Mangano, S; Scuderi, C; Borgione, E; Morello, G; Stojkovic, T; Torti, E; Zollo, M; Heimer, G; Dauvilliers, Ya; Striano, P; Al-Khawaja, I; Al-Mutairi, F; Alkuraya, Fs; Sherifa, H; Rizig, M; Okubadejo, Nu; Ojo, Oo; Oshinaike, Oo; Wahab, K; Bello, Ah; Abubakar, S; Obiabo, Y; Nwazor, E; Ekenze, O; Williams, U; Iyagba, A; Taiwo, L; Komolafe, M; Oguntunde, O; Pchelina, S; Senkevich, K; Haridy, N; Shashkin, C; Zharkynbekova, N; Koneyev, K; Manizha, G; Isrofilov, M; Guliyeva, U; Salayev, K; Khachatryan, S; Rossi, S; Silvestri, G; Bourinaris, T; Xiromerisiou, G; Fidani, L; Spanaki, C; Tucci, A.