Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery
Cali, Elisa, Rocca, Clarissa, Salpietro, Vincenzo, Houlden, Henry
Published in Frontiers in neurology (13.01.2022)
Published in Frontiers in neurology (13.01.2022)
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Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review
D'Onofrio, Gianluca, Riva, Antonella, Di Rosa, Gabriella, Cali', Elisa, Efthymiou, Stephanie, Gitto, Eloisa, Madia, Francesca, Accogli, Andrea, Zara, Federico, Houlden, Henry, Salpietro, Vincenzo, Striano, Pasquale, Soler, Doriette
Published in Brain & development (Tokyo. 1979) (01.08.2022)
Published in Brain & development (Tokyo. 1979) (01.08.2022)
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Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
Borgia, Paola, Baldassari, Simona, Pedemonte, Nicoletta, Alkhunaizi, Ebba, D'Onofrio, Gianluca, Tortora, Domenico, Calì, Elisa, Scudieri, Paolo, Balagura, Ganna, Musante, Ilaria, Diana, Maria Cristina, Pedemonte, Marina, Vari, Maria Stella, Iacomino, Michele, Riva, Antonella, Chimenz, Roberto, Mangano, Giuseppe D, Mohammadi, Mohammad Hasan, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Accogli, Andrea, Schiaffino, Maria Cristina, Maghnie, Mohamad, Soler, Miguel Angel, Echiverri, Karl, Abrams, Charles K, Striano, Pasquale, Fortuna, Sara, Maroofian, Reza, Houlden, Henry, Zara, Federico, Fiorillo, Chiara, Salpietro, Vincenzo
Published in Orphanet journal of rare diseases (19.07.2022)
Published in Orphanet journal of rare diseases (19.07.2022)
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The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15
Saffari, Afshin, Kellner, Melanie, Jordan, Catherine, Rosengarten, Helena, Mo, Alisa, Zhang, Bo, Strelko, Oleksandr, Neuser, Sonja, Davis, Marie Y, Yoshikura, Nobuaki, Futamura, Naonobu, Takeuchi, Tomoya, Nabatame, Shin, Ishiura, Hiroyuki, Tsuji, Shoji, Aldeen, Huda Shujaa, Cali, Elisa, Rocca, Clarissa, Houlden, Henry, Efthymiou, Stephanie, Assmann, Birgit, Yoon, Grace, Trombetta, Bianca A, Kivisäkk, Pia, Eichler, Florian, Nan, Haitian, Takiyama, Yoshihisa, Tessa, Alessandra, Santorelli, Filippo M, Sahin, Mustafa, Blackstone, Craig, Yang, Edward, Schüle, Rebecca, Ebrahimi-Fakhari, Darius
Published in Brain (London, England : 1878) (02.05.2023)
Published in Brain (London, England : 1878) (02.05.2023)
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A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster
Mangano, Giuseppe Donato, Antona, Vincenzo, Calì, Elisa, Fontana, Antonina, Salpietro, Vincenzo, Houlden, Henry, Veggiotti, Pierangelo, Nardello, Rosaria
Published in Seizure (London, England) (01.04.2022)
Published in Seizure (London, England) (01.04.2022)
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ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview
Amore, Greta, Calì, Elisa, Spanò, Maria, Ceravolo, Giorgia, Mangano, Giuseppe Donato, Scorrano, Giovanna, Efthymiou, Stephanie, Salpietro, Vincenzo, Houlden, Henry, Di Rosa, Gabriella
Published in Brain & development (Tokyo. 1979) (01.11.2023)
Published in Brain & development (Tokyo. 1979) (01.11.2023)
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A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children
Scorrano, Giovanna, D'Onofrio, Gianluca, Accogli, Andrea, Severino, Mariasavina, Buchert, Rebecca, Kotzaeridou, Urania, Iapadre, Giulia, Farello, Giovanni, Iacomino, Michele, Dono, Fedele, Di Francesco, Ludovica, Fiorile, Maria Francesca, La Bella, Saverio, Corsello, Antonio, Calì, Elisa, Di Rosa, Gabriella, Gitto, Eloisa, Verrotti, Alberto, Fortuna, Sara, Soler, Miguel A., Chiarelli, Francesco, Oehl-Jaschkowitz, Barbara, Haack, Tobias B., Zara, Federico, Striano, Pasquale, Salpietro, Vincenzo
Published in Pediatric neurology (01.12.2023)
Published in Pediatric neurology (01.12.2023)
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Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development
Accogli, Andrea, Lu, Shenzhao, Musante, Ilaria, Scudieri, Paolo, Rosenfeld, Jill A., Severino, Mariasavina, Baldassari, Simona, Iacomino, Michele, Riva, Antonella, Balagura, Ganna, Piccolo, Gianluca, Minetti, Carlo, Roberto, Denis, Xia, Fan, Razak, Razaali, Lawrence, Emily, Hussein, Mohamed, Chang, Emmanuel Yih-Herng, Holick, Michelle, Calì, Elisa, Aliberto, Emanuela, De-Sarro, Rosalba, Gambardella, Antonio, Network, Undiagnosed Diseases, Group, SYNaPS Study, Emrick, Lisa, McCaffery, Peter J. A., Clagett-Dame, Margaret, Marcogliese, Paul C., Bellen, Hugo J., Lalani, Seema R., Zara, Federico, Striano, Pasquale, Salpietro, Vincenzo
Published in Cerebellum (London, England) (01.04.2023)
Published in Cerebellum (London, England) (01.04.2023)
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The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications
Scorrano, Giovanna, David, Emanuele, Calì, Elisa, Chimenz, Roberto, La Bella, Saverio, Di Ludovico, Armando, Di Rosa, Gabriella, Gitto, Eloisa, Mankad, Kshitij, Nardello, Rosaria, Mangano, Giuseppe Donato, Leoni, Chiara, Ceravolo, Giorgia
Published in Genes (22.11.2023)
Published in Genes (22.11.2023)
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Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome
Casto, Celeste, Dipasquale, Valeria, Ceravolo, Ida, Gambadauro, Antonella, Aliberto, Emanuela, Galletta, Karol, Granata, Francesca, Ceravolo, Giorgia, Falzia, Emanuela, Riva, Antonella, Piccolo, Gianluca, Cutrupi, Maria Concetta, Striano, Pasquale, Accogli, Andrea, Zara, Federico, Di Rosa, Gabriella, Gitto, Eloisa, Calì, Elisa, Efthymiou, Stephanie, Salpietro, Vincenzo, Houlden, Henry, Chimenz, Roberto
Published in Brain sciences (29.08.2021)
Published in Brain sciences (29.08.2021)
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Leukoencephalopathy caused by a 17p13.3 microdeletion
Wade, Charles, Williams, Thomas, Labrum, Robyn, Patel, Yogen, Cali, Elisa, Davagnanam, Indran, Adams, Matthew E, Barkhof, Frederik, Murphy, Elaine, Chataway, Jeremy, Houlden, Henry, Lynch, David S
Published in Journal of neurology, neurosurgery and psychiatry (01.03.2024)
Published in Journal of neurology, neurosurgery and psychiatry (01.03.2024)
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White matter abnormalities in 15 subjects with SPG76
Alkhalifa, Abdulrahman, Chen, Shihan, Hasiloglu, Zehra Isik, Filosto, Massimiliano, Cali, Elisa, Houlden, Henry, Sgobbi de Souza, Paulo, Alavi, Afagh, Goizet, Cyril, Stevanin, Giovanni, Taithe, Frederic, Nicita, Francesco, Vasco, Gessica, Tozza, Stefano, Cocozza, Sirio, Carboni, Nicola, Figus, Andrea, Wu, Jianjun, Basak, A. Nazli, Brais, Bernard, Rouleau, Guy, La Piana, Roberta
Published in Journal of neurology (01.12.2023)
Published in Journal of neurology (01.12.2023)
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Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly
Klöckner, Chiara, Murray, J Pedro Fernandez, Tavasoli, Mahtab, Sticht, Heinrich, Stoltenburg-Didinger, Gisela, Scholle, Leila Motlagh, Bakhtiari, Somayeh, Kruer, Michael C, Darvish, Hossein, Firouzabadi, Saghar Ghasemi, Pagnozzi, Alex, Shukla, Anju, Girisha, Katta Mohan, Narayanan, Dhanya Lakshmi, Kaur, Parneet, Maroofian, Reza, Zaki, Maha S, Noureldeen, Mahmoud M, Merkenschlager, Andreas, Gburek-Augustat, Janina, Cali, Elisa, Banu, Selina, Nahar, Kamrun, Efthymiou, Stephanie, Houlden, Henry, Jamra, Rami Abou, Williams, Jason, McMaster, Christopher R, Platzer, Konrad
Published in Brain (London, England : 1878) (30.06.2022)
Published in Brain (London, England : 1878) (30.06.2022)
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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Salpietro, Vincenzo, Maroofian, Reza, Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Aughey, Gabriel N., Al Mutairi, Fuad, Accogli, Andrea, Zara, Federico, Tariq, Huma, Rehman, Khalil Ur, Abd Elmaksoud, Marwa, El Said, Huda G., Al Shalan, Maha, Khang, Rin, Elbendary, Hasnaa M., Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Ververi, Athina, Sourmpi, Mara, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Hannah, Michael G., Bertini, Enrico, Aguennouz, Mhammed, Groppa, Stanislav, Kathom, Hadil, Tincheva, Radka, Verrotti, Alberto, Macaya, Alfons, Garavaglia, Barbara, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Z., Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Rana, Nuzhat N., Atawneh, Osama, Zuccotti, Gian V., Marseglia, Gian L., Shaikh, Farooq, Corsello, Giovanni, Mangano, Salvatore, Koutsis, George, Scuderi, Carmela, Ferrara, Pietro, Zollo, Massimo, Berni-Canani, Roberto, Sisto, Antonio, Strano, Federica, Di Francesco, Ludovica, Salayev, Kamran, Xiromerisiou, Georgia, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Di Rosa, Gabriella, Pettoello-Mantovani, Massimo, Tazir, Meriem, Farello, Giovanni, Delvecchio, Maurizio, Di-Donato, Giulio, Obeid, Makram, Saadi, Nebal W., Maccarone, Rita, Kara, Majdi, Karimiani, Ehsan G., Seri, Marco, Di-Falco, Giovanna, Barrano, Giuseppe, Operto, Francesca F., Valenzise, Mariella, Matricardi, Sara, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, De Filippo, Maria, Licari, Amelia, Trebbi, Edoardo, Romano, Ferdinando, Heimer, Gali, Al-Khawaja, Issam, Al-Mutairi, Fuad, Shashkin, Chingiz, Koneyev, Kairgali, Pagnamenta, Alistair T., Corsello, Antonio, Dallapiccola, Bruno, Alobeid, Eman, Mankad, Kshitij, Ghayoor-Karimiani, Ehsan, Chung, Wendy K., Green, Rachel, Alkuraya, Fowzan S., Jepson, James E.C., Houlden, Henry
Published in American journal of human genetics (04.01.2024)
Published in American journal of human genetics (04.01.2024)
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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Park, Joohyun, Tucci, Arianna, Cipriani, Valentina, Demidov, German, Rocca, Clarissa, Senderek, Jan, Butryn, Michaela, Velic, Ana, Lam, Tanya, Galanaki, Evangelia, Cali, Elisa, Vestito, Letizia, Maroofian, Reza, Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Hahn, Gesa-Astrid, Bartels, Claudius, van Os, Nienke J.H., Horvath, Rita, Chinnery, Patrick F., Tiet, May Yung, Hewamadduma, Channa, Hadjivassiliou, Marios, Downes, Susan M., Németh, Andrea H., Tofaris, George K., Wood, Nicholas W., Hayer, Stefanie N., Bender, Friedemann, Menden, Benita, Cordts, Isabell, Klein, Katrin, Nguyen, Huu Phuc, Krauss, Joachim K., Blahak, Christian, Strom, Tim M., Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Synofzik, Matthis, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E., Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B., Hengel, Holger
Published in Genetics in medicine (01.10.2023)
Published in Genetics in medicine (01.10.2023)
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Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder
Medico Salsench, Eva, Maroofian, Reza, Deng, Ruizhi, Lanko, Kristina, Nikoncuk, Anita, Pérez, Belén, Sánchez-Lijarcio, Obdulia, Ibáñez-Mico, Salvador, Wojcik, Antonina, Vargas, Marcelo, Abbas Al-Sannaa, Nouriya, Girgis, Marian Y, Silveira, Tainá Regina Damaceno, Bauer, Peter, Schroeder, Audrey, Fong, Chin-To, Begtrup, Amber, Babaei, Meisam, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Doosti, Mohammad, Ahangari, Najmeh, Najarzadeh Torbati, Paria, Ghayoor Karimiani, Ehsan, Murphy, David, Cali, Elisa, Kaya, Ibrahim H, AlMuhaizea, Mohammad, Colak, Dilek, Cardona-Londoño, Kelly J, Arold, Stefan T, Houlden, Henry, Bertoli-Avella, Aida, Kaya, Namik, Barakat, Tahsin Stefan
Published in Brain (London, England : 1878) (29.11.2021)
Published in Brain (London, England : 1878) (29.11.2021)
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