Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders
Sultan, Tipu, Scorrano, Giovanna, Panciroli, Marta, Christoforou, Marilena, Raza Alvi, Javeria, Di Ludovico, Armando, Qureshi, Sameen, Efthymiou, Stephanie, Salpietro, Vincenzo, Houlden, Henry
Published in Gene (20.03.2024)
Published in Gene (20.03.2024)
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Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
Ortigoza‐Escobar, Juan Darío, Zamani, Mina, Dorison, Nathalie, Sadeghian, Saeid, Azizimalamiri, Reza, Alvi, Javeria Raza, Sultan, Tipu, Galehdari, Hamid, Shariati, Gholamreza, Saberi, Alihossein, Leeuwen, Lisette, Zifarelli, Giovanni, Bauer, Peter, d'Hardemare, Vincent, Doummar, Diane, Roze, Emmanuel, Travaglini, Lorena, Nicita, Francesco, Ojea Ponce, Núria, Zahraei, Seyed Mohammadsaleh, Alabdi, Lama, Tamim, Abdullah, Hashem, Mais O., Ababneh, Faroug, Morrow, Michelle M, Curry, Cynthia, Tam, Allison, Ruedy, Jessica, Bhambhani, Vikas, Veith, Regan, Strømme, Petter, Efthymiou, Stephanie, Alkuraya, Fowzan S, Moreno‐De‐Luca, Andres, Burglen, Lydie, Houlden, Henry, Maroofian, Reza
Published in Movement disorders (01.09.2024)
Published in Movement disorders (01.09.2024)
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Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome
De Nittis, Pasquelena, Efthymiou, Stephanie, Sarre, Alexandre, Guex, Nicolas, Chrast, Jacqueline, Putoux, Audrey, Sultan, Tipu, Raza Alvi, Javeria, ur Rahman, Zia, Zafar, Faisal, Rana, Nuzhat, Rahman, Fatima, Anwar, Najwa, Maqbool, Shazia, Zaki, Maha S, Gleeson, Joseph G, Murphy, David, Galehdari, Hamid, Shariati, Gholamreza, Mazaheri, Neda, Sedaghat, Alireza, Lesca, Gaetan, Chatron, Nicolas, Salpietro, Vincenzo, Christoforou, Marilena, Houlden, Henry, Simonds, William F, Pedrazzini, Thierry, Maroofian, Reza, Reymond, Alexandre, Groppa, Stanislav, Karashova, Blagovesta Marinova, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Goraya, Jatinder S, Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda-Marfa, Mercedes, Veggiotti, Pierangelo, Ferrari, Michel D, Maagdenberg, Arn M J M van den, Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García-Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Sanchez, Benigno Monteagudo, Boles, Richard, Papacostas, Savvas, Vikelis, Michail, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat Noureen, Atawneh, Osama, Koutsis, George, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Zollo, Massimo, Heimer, Gali, Dauvilliers, Yves A, Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Sherifa, Hamed
Published in Journal of medical genetics (01.12.2021)
Published in Journal of medical genetics (01.12.2021)
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OUTCOMES OF REFRACTORY STATUS EPILEPTICUS IN CHILDREN
Alvi, Javeria Raza, Wasim, Areeba, Ali, Mohsin, Khalily, Muhammad Athar, Rehman, Zia -Ur, Sultan, Tipu
Published in Pakistan Armed Forces medical journal (31.12.2021)
Published in Pakistan Armed Forces medical journal (31.12.2021)
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Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis
Azad, Beenish, Efthymiou, Stephanie, Sultan, Tipu, Scala, Marcello, Alvi, Javeria Raza, Neuray, Caroline, Dominik, Natalia, Gul, Asma, Houlden, Henry
Published in Journal of the neurological sciences (15.07.2020)
Published in Journal of the neurological sciences (15.07.2020)
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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
Yap, Zheng Yie, Efthymiou, Stephanie, Seiffert, Simone, Vargas Parra, Karen, Lee, Sukyeong, Nasca, Alessia, Maroofian, Reza, Schrauwen, Isabelle, Pendziwiat, Manuela, Jung, Sunhee, Bhoj, Elizabeth, Striano, Pasquale, Mankad, Kshitij, Vona, Barbara, Cuddapah, Sanmati, Wagner, Anja, Alvi, Javeria Raza, Davoudi-Dehaghani, Elham, Fallah, Mohammad-Sadegh, Gannavarapu, Srinitya, Lamperti, Costanza, Legati, Andrea, Murtaza, Bibi Nazia, Nadeem, Muhammad Shahid, Rehman, Mujaddad Ur, Saeidi, Kolsoum, Salpietro, Vincenzo, von Spiczak, Sarah, Sandoval, Abigail, Zeinali, Sirous, Zeviani, Massimo, Reich, Adi, Jang, Cholsoon, Helbig, Ingo, Barakat, Tahsin Stefan, Ghezzi, Daniele, Leal, Suzanne M., Weber, Yvonne, Houlden, Henry, Yoon, Wan Hee
Published in American journal of human genetics (02.12.2021)
Published in American journal of human genetics (02.12.2021)
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Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
D’Onofrio, Gianluca, Accogli, Andrea, Severino, Mariasavina, Caliskan, Haluk, Kokotović, Tomislav, Blazekovic, Antonela, Jercic, Kristina Gotovac, Markovic, Silvana, Zigman, Tamara, Goran, Krnjak, Barišić, Nina, Duranovic, Vlasta, Ban, Ana, Borovecki, Fran, Ramadža, Danijela Petković, Barić, Ivo, Fazeli, Walid, Herkenrath, Peter, Marini, Carla, Vittorini, Roberta, Gowda, Vykuntaraju, Bouman, Arjan, Rocca, Clarissa, Alkhawaja, Issam Azmi, Murtaza, Bibi Nazia, Rehman, Malik Mujaddad Ur, Al Alam, Chadi, Nader, Gisele, Mancardi, Maria Margherita, Giacomini, Thea, Srivastava, Siddharth, Alvi, Javeria Raza, Tomoum, Hoda, Matricardi, Sara, Iacomino, Michele, Riva, Antonella, Scala, Marcello, Madia, Francesca, Pistorio, Angela, Salpietro, Vincenzo, Minetti, Carlo, Rivière, Jean-Baptiste, Srour, Myriam, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Vernes, Sonja Catherine, Zara, Federico, Striano, Pasquale, Nagy, Vanja
Published in Human genetics (01.07.2023)
Published in Human genetics (01.07.2023)
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Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition
Ghosh, Shereen G., Lee, Sangmoon, Fabunan, Rudy, Chai, Guoliang, Zaki, Maha S., Abdel-Salam, Ghada, Sultan, Tipu, Ben-Omran, Tawfeg, Alvi, Javeria Raza, McEvoy-Venneri, Jennifer, Stanley, Valentina, Patel, Aakash, Ross, Danica, Ding, Jeffrey, Jain, Mohit, Pan, Daqiang, Lübbert, Philipp, Kammerer, Bernd, Wiedemann, Nils, Verhoeven-Duif, Nanda M., Jans, Judith J., Murphy, David, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Ibrahim, Khalid, Waters, Elizabeth R., Maroofian, Reza, Gleeson, Joseph G.
Published in Genetics in medicine (01.03.2021)
Published in Genetics in medicine (01.03.2021)
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PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways
Magrinelli, Francesca, Tesson, Christelle, Angelova, Plamena R, Salazar-Villacorta, Ainara, Rodriguez, Jose A, Scardamaglia, Annarita, Chung, Brian Hon-Yin, Jaconelli, Matthew, Vona, Barbara, Esteras, Noemi, Kwong, Anna Ka-Yee, Courtin, Thomas, Maroofian, Reza, Alavi, Shahryar, Nirujogi, Raja, Severino, Mariasavina, Lewis, Patrick A, Efthymiou, Stephanie, O'Callaghan, Benjamin, Buchert, Rebecca, Sofan, Linda, Lis, Pawel, Pinon, Chloé, Breedveld, Guido J, Chui, Martin Man-Chun, Murphy, David, Pitz, Vanessa, Makarious, Mary B, Cassar, Marlene, Hassan, Bassem A, Iftikhar, Sana, Rocca, Clarissa, Bauer, Peter, Tinazzi, Michele, Svetel, Marina, Samanci, Bedia, Hanağası, Haşmet A, Bilgiç, Basar, Obeso, José A, Kurtis, Monica M, Cogan, Guillaume, Başak, Ayşe Nazlı, Kiziltan, Güneş, Gül, Tuğçe, Yalçın, Gül, Elibol, Bülent, Barišić, Nina, Ng, Earny Wei-Sen, Fan, Sze-Shing, Hershkovitz, Tova, Weiss, Karin, Raza Alvi, Javeria, Sultan, Tipu, Azmi Alkhawaja, Issam, Froukh, Tawfiq, E Alrukban, Hadeel Abdollah, Fauth, Christine, Schatz, Ulrich A, Zöggeler, Thomas, Zech, Michael, Stals, Karen, Varghese, Vinod, Gandhi, Sonia, Blauwendraat, Cornelis, Hardy, John A, Lesage, Suzanne, Bonifati, Vincenzo, Haack, Tobias B, Bertoli-Avella, Aida M, Steinfeld, Robert, Alessi, Dario R, Steller, Hermann, Brice, Alexis, Abramov, Andrey Y, Bhatia, Kailash P, Houlden, Henry
Published in medRxiv : the preprint server for health sciences (20.06.2024)
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Published in medRxiv : the preprint server for health sciences (20.06.2024)
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