Current and Emerging Treatment Modalities for Leber’s Hereditary Optic Neuropathy: A Review of the Literature

por Theodorou-Kanakari, Anna, Karampitianis, Spyridon, Karageorgou, Vasiliki, Kampourelli, Eleni, Kapasakis, Efstathios, Theodossiadis, Panagiotis, Chatziralli, Irini
Publicado 2018

Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias

por Allali, Slimane, Muller, Jean-Baptiste, Brauner, Raja, Lourenço, Diana, Boudjenah, Radia, Karageorgou, Vasiliki, Trivin, Christine, Lottmann, Henri, Lortat-Jacob, Stephen, Nihoul-Fékété, Claire, De Dreuzy, Olivier, McElreavey, Ken, Bashamboo, Anu
Publicado 2011

Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome

por Ali Alghamdi, Malak, Benabdelkamel, Hicham, Masood, Afshan, Saheb Sharif-Askari, Narjes, Hachim, Mahmood Y., Alsheikh, Hamad, Hamad, Muddathir H., Salih, Mustafa A., Bashiri, Fahad A., Alhasan, Khalid, Kashour, Tarek, Guatibonza Moreno, Pilar, Schröder, Sabine, Karageorgou, Vasiliki, Bertoli-Avella, Aida M., Alkhalidi, Hisham, Jamjoom, Dima Z., Alorainy, Ibrahim A., Alfadda, Assim A., Halwani, Rabih
Publicado 2022

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues

por Smits, Daphne J., Schot, Rachel, Popescu, Cristiana A., Dias, Kerith-Rae, Ades, Lesley, Briere, Lauren C., Sweetser, David A., Kushima, Itaru, Aleksic, Branko, Khan, Suliman, Karageorgou, Vasiliki, Ordonez, Natalia, Sleutels, Frank J. G. T., van der Kaay, Daniëlle C. M., Van Mol, Christine, Van Esch, Hilde, Bertoli-Avella, Aida M., Roscioli, Tony, Mancini, Grazia M. S.
Publicado 2023

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

por Bertoli-Avella, Aida M., Kandaswamy, Krishna K., Khan, Suliman, Ordonez-Herrera, Natalia, Tripolszki, Kornelia, Beetz, Christian, Rocha, Maria Eugenia, Urzi, Alize, Hotakainen, Ronja, Leubauer, Anika, Al-Ali, Ruslan, Karageorgou, Vasiliki, Moldovan, Oana, Dias, Patrícia, Alhashem, Amal, Tabarki, Brahim, Albalwi, Mohammed A., Alswaid, Abdulrahman Faiz, Al-Hassnan, Zuhair N., Alghamdi, Malak Ali, Hadipour, Zahra, Hadipour, Fatemeh, Al Hashmi, Nadia, Al-Gazali, Lihadh, Cheema, Huma, Zaki, Maha S., Hüning, Irina, Alfares, Ahmed, Eyaid, Wafaa, Al Mutairi, Fuad, Alfadhel, Majid, Alkuraya, Fowzan S., Al-Sannaa, Nouriya Abbas, AlShamsi, Aisha M., Ameziane, Najim, Rolfs, Arndt, Bauer, Peter
Publicado 2021

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene

por Bertoli-Avella, Aida, Hotakainen, Ronja, Al Shehhi, Maryam, Urzi, Alice, Pareira, Catarina, Marais, Anett, Al Shidhani, Khoula, Aloraimi, Sumaya, Morales-Torres, Galina, Fisher, Steffen, Demuth, Laura, Moteleb Selim, Laila Abdel, Al Menabawy, Nihal, Busehail, Maryam, AlShaikh, Mohammed, Gilani, Naser, Chalabi, Dler Nooruldeen, Alharbi, Nasser S, Alfadhel, Majid, Abdelrahman, Mohammed, Venselaar, Hanka, Anjum, Nadeem, Saeed, Anjum, Alghamdi, Malak Ali, Aljaedi, Hamad, Arabi, Hisham, Karageorgou, Vasiliki, Khan, Suliman, Hajjari, Zahra, Radefeldt, Mandy, Al-Ali, Ruslan, Tripolszki, Kornelia, Jamhawi, Amer, Paknia, Omid, Cozma, Claudia, Cheema, Huma, Ameziane, Najim, Al-Muhsen, Saleh, Bauer, Peter
Publicado 2022

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

por Iqbal, Maria, Maroofian, Reza, Çavdarlı, Büşranur, Riccardi, Florence, Field, Michael, Banka, Siddharth, Bubshait, Dalal K., Li, Yun, Hertecant, Jozef, Baig, Shahid Mahmood, Dyment, David, Efthymiou, Stephanie, Abdullah, Uzma, Makhdoom, Ehtisham Ul Haq, Ali, Zafar, Scherf de Almeida, Tobias, Molinari, Florence, Mignon-Ravix, Cécile, Chabrol, Brigitte, Antony, Jayne, Ades, Lesley, Pagnamenta, Alistair T., Jackson, Adam, Douzgou, Sofia, Beetz, Christian, Karageorgou, Vasiliki, Vona, Barbara, Rad, Aboulfazl, Baig, Jamshaid Mahmood, Sultan, Tipu, Alvi, Javeria Raza, Maqbool, Shazia, Rahman, Fatima, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Sarwar, Yasra, Khan, Sheraz, Jameel, Muhammad, Noegel, Angelika A., Budde, Birgit, Altmüller, Janine, Motameny, Susanne, Höhne, Wolfgang, Houlden, Henry, Nürnberg, Peter, Wollnik, Bernd, Villard, Laurent, Alkuraya, Fowzan Sami, Osmond, Matthew, Hussain, Muhammad Sajid, Yigit, Gökhan
Publicado 2021

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

por Deng, Ruizhi, Medico-Salsench, Eva, Nikoncuk, Anita, Ramakrishnan, Reshmi, Lanko, Kristina, Kühn, Nikolas A., van der Linde, Herma C., Lor-Zade, Sarah, Albuainain, Fatimah, Shi, Yuwei, Yousefi, Soheil, Capo, Ivan, van den Herik, Evita Medici, van Slegtenhorst, Marjon, van Minkelen, Rick, Geeven, Geert, Mulder, Monique T., Ruijter, George J. G., Lütjohann, Dieter, Jacobs, Edwin H., Houlden, Henry, Pagnamenta, Alistair T., Metcalfe, Kay, Jackson, Adam, Banka, Siddharth, De Simone, Lenika, Schwaede, Abigail, Kuntz, Nancy, Palculict, Timothy Blake, Abbas, Safdar, Umair, Muhammad, AlMuhaizea, Mohammed, Colak, Dilek, AlQudairy, Hanan, Alsagob, Maysoon, Pereira, Catarina, Trunzo, Roberta, Karageorgou, Vasiliki, Bertoli-Avella, Aida M., Bauer, Peter, Bouman, Arjan, Hoefsloot, Lies H., van Ham, Tjakko J., Issa, Mahmoud, Zaki, Maha S., Gleeson, Joseph G., Willemsen, Rob, Kaya, Namik, Arold, Stefan T., Maroofian, Reza, Sanderson, Leslie E., Barakat, Tahsin Stefan
Publicado 2023