SEVERINO, MARIASAVINA
SEVERINO, MARIASAVINA
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region
2018-01-01 Tassano, E.; Uccella, S.; Giacomini, T.; Severino, M.; Siri, L.; Gherzi, M.; Celle, M. E.; Porta, S.; Gimelli, G.; Ronchetto, P.
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications
2025-01-01 Scala, Marcello; Leong, Nancy C. P.; Uyen Le, Thanh Nha; Zhang, Yu; Wu, Yichang; Severino, Mariasavina; Madia, Francesca; Shams Nosrati, Mohammad Sadegh; Dostmohammadi, Alireza; Capra, Valeria; Paladini, Dario; Buffelli, Francesca; Fulcheri, Ezio; Cappato, Serena; Menta, Ludovica; Bocciardi, Renata; Zara, Federico; Nguyen, Long N.
Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center
2025-01-01 Romano, Ferruccio; De Marco, Patrizia; Amico, Giulia; Mallamaci, Marisa; Pavanello, Marco; Piatelli, Gianluca; Scala, Marcello; Zara, Federico; Faravelli, Francesca; Severino, Mariasavina; Tortora, Domenico; Pasetti, Francesco; Castellan, Lucio; Buratti, Silvia; Capra, Valeria
Basal ganglia stroke in pediatric population: Single center experience
2017-01-01 Giacomini, Thea; Uccella, Sara; Croci, Carolina; Prato, Giulia; Bertamino, Marta; Banov, Laura; Tortora, Domenico; Severino, Mariasavina; Lanteri, Paola
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder
2024-01-01 Accogli, A.; Park, Y. N.; Lenk, G. M.; Severino, M.; Scala, M.; Denecke, J.; Hempel, M.; Lessel, D.; Kortum, F.; Salpietro, V.; De Marco, P.; Guerrisi, S.; Torella, A.; Nigro, V.; Srour, M.; Turro, E.; Labarque, V.; Freson, K.; Piatelli, G.; Capra, V.; Kitzman, J. O.; Meisler, M. H.
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia
2023-01-01 Romano, Ferruccio; Amadori, Elisabetta; Madia, Francesca; Severino, Mariasavina; Capra, Valeria; Rizzo, Renata; Barone, Rita; Corradi, Beatrice; Maragliano, Luca; Shams Nosrati, Mohammad Sadegh; Falace, Antonio; Striano, Pasquale; Zara, Federico; Scala, Marcello
Corpus callosum agenesis and interhemispheric cysts: Epileptic evaluation and long-term outcome in 9 children
2017-01-01 Uccella, Sara; Mancardi, Maria Margherita; Martinetti, Carola; Tortora, Domenico; Moretti, Marta; Capra, Valeria; Ravegnani, Marcello; Severino, Maria Savina
De novo variants in DENND5B cause a neurodevelopmental disorder
2024-01-01 Scala, Marcello; Tomati, Valeria; Ferla, Matteo; Lena, Mariateresa; Cohen, Julie S; Fatemi, Ali; Brokamp, Elly; Bican, Anna; Phillips, John A; Koziura, Mary E; Nicouleau, Michael; Rio, Marlene; Siquier, Karine; Boddaert, Nathalie; Musante, Ilaria; Tamburro, Serena; Baldassari, Simona; Iacomino, Michele; Scudieri, Paolo; Rosenfeld, Jill A; Bellus, Gary; Reed, Sara; Al Saif, Hind; Russo, Rossana Sanchez; Walsh, Matthew B; Cantagrel, Vincent; Crunk, Amy; Gustincich, Stefano; Ruggiero, Sarah M; Fitzgerald, Mark P; Helbig, Ingo; Striano, Pasquale; Severino, Mariasavina; Salpietro, Vincenzo; Pedemonte, Nicoletta; Zara, Federico
Early Extra-Uterine Growth Restriction in Very-Low-Birth-Weight Neonates with Normal or Mildly Abnormal Brain MRI: Effects on a 2-3-Year Neurodevelopmental Outcome
2024-01-01 Massirio, Paolo; Battaglini, Marcella; Bonato, Irene; De Crescenzo, Sara; Calevo, Maria Grazia; Malova, Mariya; Caruggi, Samuele; Parodi, Alessandro; Preiti, Deborah; Zoia, Agata; Uccella, Sara; Tortora, Domenico; Severino, Mariasavina; Rossi, Andrea; Traggiai, Cristina; Nobili, Lino; Striano, Pasquale; Ramenghi, Luca Antonio
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
2023-01-01 Bosch, E.; Popp, B.; Guse, E.; Skinner, C.; Van Der Sluijs, P. J.; Maystadt, I.; Pinto, A. M.; Renieri, A.; Bruno, L. P.; Granata, S.; Marcelis, C.; Baysal, O.; Hartwich, D.; Holthofer, L.; Isidor, B.; Cogne, B.; Wieczorek, D.; Capra, V.; Scala, M.; De Marco, P.; Ognibene, M.; Jamra, R. A.; Platzer, K.; Carter, L. B.; Kuismin, O.; Van Haeringen, A.; Maroofian, R.; Valenzuela, I.; Cusco, I.; Martinez-Agosto, J. A.; Rabani, A. M.; Mefford, H. C.; Pereira, E. M.; Close, C.; Anyane-Yeboa, K.; Wagner, M.; Hannibal, M. C.; Zacher, P.; Thiffault, I.; Beunders, G.; Umair, M.; Bhola, P. T.; Mcginnis, E.; Millichap, J.; Van De Kamp, J. M.; Prijoles, E. J.; Dobson, A.; Shillington, A.; Graham, B. H.; Garcia, E. -J.; Galindo, M. K.; Ropers, F. G.; Nibbeling, E. A. R.; Hubbard, G.; Karimov, C.; Goj, G.; Bend, R.; Rath, J.; Morrow, M. M.; Millan, F.; Salpietro, V.; Torella, A.; Nigro, V.; Kurki, M.; Stevenson, R. E.; Santen, G. W. E.; Zweier, M.; Campeau, P. M.; Severino, M.; Reis, A.; Accogli, A.; Vasileiou, G.
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy
2024-01-01 Clara-Hwang, Angela; Stefani, Stefani; Lau, Tracy; Scala, Marcello; Aynekin, Busra; Bernardo, Pia; Madia, Francesca; Bakhtadze, Sophia; Kaiyrzhanov, Rauan; Maroofian, Reza; Zara, Federico; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju; Guliyeva, Ulviyya; Montavont, Alexandra; Poulat, Anne-Lise; Güleç, Ayten; Berger, Colette; Ville, Dorothee M; de Bellescize, Julitta; Cabet, Sara; Wonneberger, Antje; Schulz, Alexander; Rodriguez-Palmero, Agusti; Chatron, Nicolas; Lesca, Gaetan; Per, Hüseyin; Goel, Himanshu; Brown, Janis; Frey, Tanja; Steindl, Katharina; Rauch, Anita; Severino, Mariasavina; Houlden, Henry; Nicolaides, Paola; Striano, Pasquale; Efthymiou, Stephanie
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review
2024-01-01 Romano, Ferruccio; Haanpää, Maria K; Pomianowski, Pawel; Peraino, Amanda Rose; Pollard, John R; Di Feo, Maria Francesca; Traverso, Monica; Severino, Mariasavina; Derchi, Maria; Henzen, Edoardo; Zara, Federico; Faravelli, Francesca; Capra, Valeria; Scala, Marcello
Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts
2022-01-01 Severino, Mariasavina; Tortora, Domenico; Reid, Catriona; Uccella, Sara; Nobili, Lino; Accogli, Andrea; Srour, Myriam; Ramaglia, Antonia; Sudhakar, Sniya; Consales, Alessandro; Pavanello, Marco; Piatelli, Gianluca; James, Greg; Ravegnani, Marcello; Rossi, Andrea; Mankad, Kshitij
Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity
2018-01-01 Tassano, Elisa; Uccella, Sara; Giacomini, Thea; Striano, Pasquale; Severino, Mariasavina; Porta, Simona; Gimelli, Giorgio; Ronchetto, Patrizia
LONG-TERM OUTCOME IN CEREBRAL ARTERIA ISCHEMIC STROKE (AIS) DUE TO VARICELLA ZOSTER VIRUS (VZV) IN CHILDREN
2019-01-01 Signa, S.; Bertamino, M.; Amico, G.; Caorsi, R.; Losurdo, G.; Gattorno, M.; Tortora, D.; Volpi, S.; Banov, L.; Beretta, E.; Siri, B.; Saracco, P.; Germiniasi, C.; Prato10, G.; Giacomini, T.; Ronchetti, A.; Ceccherini, I.; Di Rocco, M.; Aiello, A; Banov, L; Capra, V; Lanteri, P; Molinari, Ac; Moscatelli, A; Palmieri, A; Pavanello, M; Ramenghi, La; Rimini, A; Rossi, A; Uccella, S; Severino, M.
LOW-GRADE IVH AND LOW-GRADE CBH: WHICH INFLUENCE ON GRIFFITHS SCORE AT 2 YEARS OF AGE?
2017-01-01 Parodi, A.; Malova, M.; Uccella, S.; Boeri, L.; De Grandis, E.; Sannia, A.; Severino, M.; Morana, G.; Tortora, D.; Rossi, A.; , ; Ramenghi, L. A.
Multi-view fusion of diffusion MRI microstructural models: a preterm birth study
2024-01-01 Tro, R.; Roascio, M.; Tortora, D.; Severino, M.; Rossi, A.; Garyfallidis, E.; Arnulfo, G.; Fato, M. M.; Fadnavis, S.
Neonatal Perforator Stroke: Timing, Risk Factors, and Neurological Outcome from a Single-Center Experience
2025-01-01 Calandrino, Andrea; Cipresso, Gaia; Battaglini, Marcella; Caruggi, Samuele; Bonato, Irene; Massirio, Paolo; Andreato, Chiara; Vinci, Francesco; Parodi, Alessandro; Malova, Mariya; Bertamino, Marta; Amadori, Elisabetta; Severino, Mariasavina; Resaz, Martina; Rossi, Andrea; Striano, Pasquale; Ramenghi, LUCA ANTONIO
Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects
2025-01-01 Nosrati, Mohammad Sadegh Shams; Doustmohammadi, Alireza; Severino, Mariasavina; Romano, Ferruccio; Zafari, Mahdi; Nemati, Amir Hesam; Velmans, Clara; Netzer, Christian; Breuer, Jonas; Broekaert, Ilse Julia; Joachim, Alexander; Almasri, Nihad; Kruer, Michael C; Skidmore, Peter; Bisarad, Pritha; Hoque, Jumana; Bakhtiari, Somayeh; Torella, Annalaura; Nigro, Vincenzo; Buffelli, Francesca; Fulcheri, Ezio; Müller, Annette; Zara, Federico; Capra, Valeria; Scala, Marcello
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
2024-01-01 Efthymiou, Stephanie; Scala, Marcello; Nagaraj, Vini; Ochenkowska, Katarzyna; Komdeur, Fenne L; Liang, Robin A; Abdel-Hamid, Mohamed S; Sultan, Tipu; Barøy, Tuva; Van Ghelue, Marijke; Vona, Barbara; Maroofian, Reza; Zafar, Faisal; Alkuraya, Fowzan S; Zaki, Maha S; Severino, Mariasavina; Duru, Kingsley C; Tryon, Robert C; Brauteset, Lin Vigdis; Ansari, Morad; Hamilton, Mark; van Haelst, Mieke M; van Haaften, Gijs; Zara, Federico; Houlden, Henry; Samarut, Éric; Nichols, Colin G; Smeland, Marie F; Mcclenaghan, Conor
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region | 1-gen-2018 | Tassano, E.; Uccella, S.; Giacomini, T.; Severino, M.; Siri, L.; Gherzi, M.; Celle, M. E.; Porta, S.; Gimelli, G.; Ronchetto, P. | |
| A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications | 1-gen-2025 | Scala, Marcello; Leong, Nancy C. P.; Uyen Le, Thanh Nha; Zhang, Yu; Wu, Yichang; Severino, Mariasavina; Madia, Francesca; Shams Nosrati, Mohammad Sadegh; Dostmohammadi, Alireza; Capra, Valeria; Paladini, Dario; Buffelli, Francesca; Fulcheri, Ezio; Cappato, Serena; Menta, Ludovica; Bocciardi, Renata; Zara, Federico; Nguyen, Long N. | |
| Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center | 1-gen-2025 | Romano, Ferruccio; De Marco, Patrizia; Amico, Giulia; Mallamaci, Marisa; Pavanello, Marco; Piatelli, Gianluca; Scala, Marcello; Zara, Federico; Faravelli, Francesca; Severino, Mariasavina; Tortora, Domenico; Pasetti, Francesco; Castellan, Lucio; Buratti, Silvia; Capra, Valeria | |
| Basal ganglia stroke in pediatric population: Single center experience | 1-gen-2017 | Giacomini, Thea; Uccella, Sara; Croci, Carolina; Prato, Giulia; Bertamino, Marta; Banov, Laura; Tortora, Domenico; Severino, Mariasavina; Lanteri, Paola | |
| Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder | 1-gen-2024 | Accogli, A.; Park, Y. N.; Lenk, G. M.; Severino, M.; Scala, M.; Denecke, J.; Hempel, M.; Lessel, D.; Kortum, F.; Salpietro, V.; De Marco, P.; Guerrisi, S.; Torella, A.; Nigro, V.; Srour, M.; Turro, E.; Labarque, V.; Freson, K.; Piatelli, G.; Capra, V.; Kitzman, J. O.; Meisler, M. H. | |
| Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia | 1-gen-2023 | Romano, Ferruccio; Amadori, Elisabetta; Madia, Francesca; Severino, Mariasavina; Capra, Valeria; Rizzo, Renata; Barone, Rita; Corradi, Beatrice; Maragliano, Luca; Shams Nosrati, Mohammad Sadegh; Falace, Antonio; Striano, Pasquale; Zara, Federico; Scala, Marcello | |
| Corpus callosum agenesis and interhemispheric cysts: Epileptic evaluation and long-term outcome in 9 children | 1-gen-2017 | Uccella, Sara; Mancardi, Maria Margherita; Martinetti, Carola; Tortora, Domenico; Moretti, Marta; Capra, Valeria; Ravegnani, Marcello; Severino, Maria Savina | |
| De novo variants in DENND5B cause a neurodevelopmental disorder | 1-gen-2024 | Scala, Marcello; Tomati, Valeria; Ferla, Matteo; Lena, Mariateresa; Cohen, Julie S; Fatemi, Ali; Brokamp, Elly; Bican, Anna; Phillips, John A; Koziura, Mary E; Nicouleau, Michael; Rio, Marlene; Siquier, Karine; Boddaert, Nathalie; Musante, Ilaria; Tamburro, Serena; Baldassari, Simona; Iacomino, Michele; Scudieri, Paolo; Rosenfeld, Jill A; Bellus, Gary; Reed, Sara; Al Saif, Hind; Russo, Rossana Sanchez; Walsh, Matthew B; Cantagrel, Vincent; Crunk, Amy; Gustincich, Stefano; Ruggiero, Sarah M; Fitzgerald, Mark P; Helbig, Ingo; Striano, Pasquale; Severino, Mariasavina; Salpietro, Vincenzo; Pedemonte, Nicoletta; Zara, Federico | |
| Early Extra-Uterine Growth Restriction in Very-Low-Birth-Weight Neonates with Normal or Mildly Abnormal Brain MRI: Effects on a 2-3-Year Neurodevelopmental Outcome | 1-gen-2024 | Massirio, Paolo; Battaglini, Marcella; Bonato, Irene; De Crescenzo, Sara; Calevo, Maria Grazia; Malova, Mariya; Caruggi, Samuele; Parodi, Alessandro; Preiti, Deborah; Zoia, Agata; Uccella, Sara; Tortora, Domenico; Severino, Mariasavina; Rossi, Andrea; Traggiai, Cristina; Nobili, Lino; Striano, Pasquale; Ramenghi, Luca Antonio | |
| Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals | 1-gen-2023 | Bosch, E.; Popp, B.; Guse, E.; Skinner, C.; Van Der Sluijs, P. J.; Maystadt, I.; Pinto, A. M.; Renieri, A.; Bruno, L. P.; Granata, S.; Marcelis, C.; Baysal, O.; Hartwich, D.; Holthofer, L.; Isidor, B.; Cogne, B.; Wieczorek, D.; Capra, V.; Scala, M.; De Marco, P.; Ognibene, M.; Jamra, R. A.; Platzer, K.; Carter, L. B.; Kuismin, O.; Van Haeringen, A.; Maroofian, R.; Valenzuela, I.; Cusco, I.; Martinez-Agosto, J. A.; Rabani, A. M.; Mefford, H. C.; Pereira, E. M.; Close, C.; Anyane-Yeboa, K.; Wagner, M.; Hannibal, M. C.; Zacher, P.; Thiffault, I.; Beunders, G.; Umair, M.; Bhola, P. T.; Mcginnis, E.; Millichap, J.; Van De Kamp, J. M.; Prijoles, E. J.; Dobson, A.; Shillington, A.; Graham, B. H.; Garcia, E. -J.; Galindo, M. K.; Ropers, F. G.; Nibbeling, E. A. R.; Hubbard, G.; Karimov, C.; Goj, G.; Bend, R.; Rath, J.; Morrow, M. M.; Millan, F.; Salpietro, V.; Torella, A.; Nigro, V.; Kurki, M.; Stevenson, R. E.; Santen, G. W. E.; Zweier, M.; Campeau, P. M.; Severino, M.; Reis, A.; Accogli, A.; Vasileiou, G. | |
| Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy | 1-gen-2024 | Clara-Hwang, Angela; Stefani, Stefani; Lau, Tracy; Scala, Marcello; Aynekin, Busra; Bernardo, Pia; Madia, Francesca; Bakhtadze, Sophia; Kaiyrzhanov, Rauan; Maroofian, Reza; Zara, Federico; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju; Guliyeva, Ulviyya; Montavont, Alexandra; Poulat, Anne-Lise; Güleç, Ayten; Berger, Colette; Ville, Dorothee M; de Bellescize, Julitta; Cabet, Sara; Wonneberger, Antje; Schulz, Alexander; Rodriguez-Palmero, Agusti; Chatron, Nicolas; Lesca, Gaetan; Per, Hüseyin; Goel, Himanshu; Brown, Janis; Frey, Tanja; Steindl, Katharina; Rauch, Anita; Severino, Mariasavina; Houlden, Henry; Nicolaides, Paola; Striano, Pasquale; Efthymiou, Stephanie | |
| Expanding the phenotype of UPF3B-related disorder: Case reports and literature review | 1-gen-2024 | Romano, Ferruccio; Haanpää, Maria K; Pomianowski, Pawel; Peraino, Amanda Rose; Pollard, John R; Di Feo, Maria Francesca; Traverso, Monica; Severino, Mariasavina; Derchi, Maria; Henzen, Edoardo; Zara, Federico; Faravelli, Francesca; Capra, Valeria; Scala, Marcello | |
| Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts | 1-gen-2022 | Severino, Mariasavina; Tortora, Domenico; Reid, Catriona; Uccella, Sara; Nobili, Lino; Accogli, Andrea; Srour, Myriam; Ramaglia, Antonia; Sudhakar, Sniya; Consales, Alessandro; Pavanello, Marco; Piatelli, Gianluca; James, Greg; Ravegnani, Marcello; Rossi, Andrea; Mankad, Kshitij | |
| Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity | 1-gen-2018 | Tassano, Elisa; Uccella, Sara; Giacomini, Thea; Striano, Pasquale; Severino, Mariasavina; Porta, Simona; Gimelli, Giorgio; Ronchetto, Patrizia | |
| LONG-TERM OUTCOME IN CEREBRAL ARTERIA ISCHEMIC STROKE (AIS) DUE TO VARICELLA ZOSTER VIRUS (VZV) IN CHILDREN | 1-gen-2019 | Signa, S.; Bertamino, M.; Amico, G.; Caorsi, R.; Losurdo, G.; Gattorno, M.; Tortora, D.; Volpi, S.; Banov, L.; Beretta, E.; Siri, B.; Saracco, P.; Germiniasi, C.; Prato10, G.; Giacomini, T.; Ronchetti, A.; Ceccherini, I.; Di Rocco, M.; Aiello, A; Banov, L; Capra, V; Lanteri, P; Molinari, Ac; Moscatelli, A; Palmieri, A; Pavanello, M; Ramenghi, La; Rimini, A; Rossi, A; Uccella, S; Severino, M. | |
| LOW-GRADE IVH AND LOW-GRADE CBH: WHICH INFLUENCE ON GRIFFITHS SCORE AT 2 YEARS OF AGE? | 1-gen-2017 | Parodi, A.; Malova, M.; Uccella, S.; Boeri, L.; De Grandis, E.; Sannia, A.; Severino, M.; Morana, G.; Tortora, D.; Rossi, A.; , ; Ramenghi, L. A. | |
| Multi-view fusion of diffusion MRI microstructural models: a preterm birth study | 1-gen-2024 | Tro, R.; Roascio, M.; Tortora, D.; Severino, M.; Rossi, A.; Garyfallidis, E.; Arnulfo, G.; Fato, M. M.; Fadnavis, S. | |
| Neonatal Perforator Stroke: Timing, Risk Factors, and Neurological Outcome from a Single-Center Experience | 1-gen-2025 | Calandrino, Andrea; Cipresso, Gaia; Battaglini, Marcella; Caruggi, Samuele; Bonato, Irene; Massirio, Paolo; Andreato, Chiara; Vinci, Francesco; Parodi, Alessandro; Malova, Mariya; Bertamino, Marta; Amadori, Elisabetta; Severino, Mariasavina; Resaz, Martina; Rossi, Andrea; Striano, Pasquale; Ramenghi, LUCA ANTONIO | |
| Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects | 1-gen-2025 | Nosrati, Mohammad Sadegh Shams; Doustmohammadi, Alireza; Severino, Mariasavina; Romano, Ferruccio; Zafari, Mahdi; Nemati, Amir Hesam; Velmans, Clara; Netzer, Christian; Breuer, Jonas; Broekaert, Ilse Julia; Joachim, Alexander; Almasri, Nihad; Kruer, Michael C; Skidmore, Peter; Bisarad, Pritha; Hoque, Jumana; Bakhtiari, Somayeh; Torella, Annalaura; Nigro, Vincenzo; Buffelli, Francesca; Fulcheri, Ezio; Müller, Annette; Zara, Federico; Capra, Valeria; Scala, Marcello | |
| Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome | 1-gen-2024 | Efthymiou, Stephanie; Scala, Marcello; Nagaraj, Vini; Ochenkowska, Katarzyna; Komdeur, Fenne L; Liang, Robin A; Abdel-Hamid, Mohamed S; Sultan, Tipu; Barøy, Tuva; Van Ghelue, Marijke; Vona, Barbara; Maroofian, Reza; Zafar, Faisal; Alkuraya, Fowzan S; Zaki, Maha S; Severino, Mariasavina; Duru, Kingsley C; Tryon, Robert C; Brauteset, Lin Vigdis; Ansari, Morad; Hamilton, Mark; van Haelst, Mieke M; van Haaften, Gijs; Zara, Federico; Houlden, Henry; Samarut, Éric; Nichols, Colin G; Smeland, Marie F; Mcclenaghan, Conor |