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收藏Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
Falabella, Micol; Pizzamiglio, Chiara; Tabara, Luis Carlos; Munro, Benjamin; Abdel-Hamid, Mohamed S.; Sonmezler, Ece; Macken, William L.; Lu, Shanti; Tilokani, Lisa; Flannery, Padraig J.; Patel, Nina; Pope, Simon A. S.; Heales, Simon J. R.; Hammadi, Dania B. H.; Alston, Charlotte L.; Taylor, Robert W.; Lochmuller, Hanns; Woodward, Cathy E.; Labrum, Robyn; Vandrovcova, Jana; Houlden, Henry; Chronopoulou, Efstathia; Pierre, Germaine; Maroofian, Reza; Hanna, Michael G.; Taanman, Jan-Willem; Hiz, Semra; Oktay, Yavuz; Zaki, Maha S.; Horvath, Rita; Prudent, Julien; Pitceathly, Robert D. S. 分享 收藏 分享 收藏 Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcificationsn末端乙酰化能力受损的双等位基因NAA60变体导致常染色体隐性遗传原发性家族性脑钙化Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren C.; Seabra, Luis; Siggervag, Anette; Devic, Perrine; Shamseldin, Hanan E.; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M. Natalia; Kaiyrzhanov, Rauan; Salpietro, Vincenzo; Efthymiou, Stephanie; Schottlaender, Lucia V.; Morsy, Heba; Scardamaglia, Annarita; Tariq, Ambreen; Pagnamenta, Alistair T.; Pennavaria, Ajia; Krogstad, Liv S.; Bekkelund, Ase K.; Caiella, Alessia; Glomnes, Nina; Bronstad, Kirsten M.; Tury, Sandrine; De Luca, Andres Moreno; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-Francois; Anheim, Mathieu; Cretin, Benjamin; Vona, Barbara; Alajlan, Fahad; Abdulwahab, Firdous; Battini, Jean-Luc; Ipek, Rojan; Bauer, Peter; Zifarelli, Giovanni; Gungor, Serdal; Kurul, Semra Hiz; Lochmuller, Hanns; Da'as, Sahar I.; Fakhro, Khalid A.; Gomez-Pascual, Alicia; Botia, Juan A.; Wood, Nicholas W.; Horvath, Rita; Ernst, Andreas M.; Rothman, James E.; McEntagart, Meriel; Crow, Yanick J.; Alkuraya, Fowzan S.; Nicolas, Gael; Arnesen, Thomas; Houlden, Henry 分享 收藏 Pediatric-Onset Chronic Inflammatory Demyelinating Polyneuropathy: A Multicenter StudyUzan, Gamze Sarikaya; Vural, Atay; Yuksel, Deniz; Aksoy, Erhan; Oztoprak, Ulkuhan; Canpolat, Mehmet; Ozturk, Selcan; Yildirim, Celebi; Gulec, Ayten; Per, Huseyin; Gumus, Hakan; Okuyaz, Cetin; Direk, Meltem Cobanoullari; Kosmur, Mustafa; Unalp, Aycan; Yilmaz, Unsal; Bektas, Omer; Teber, Serap; Aliyeva, Nargiz; Dundar, Nihal Olgac; Gencpinar, Pinar; Gurkas, Esra; Yilmaz, Sanem Keskin; Kanmaz, Seda; Tekgtil, Hasan; Aksoy, Ayse; Tuncer, Gokcen Oz; Arslan, Elif Acar; Tosun, Ayse; Ayanoglu, Muge; Kizilirmak, Ali Burak; Yousefi, Mohammadreza; Bodur, Muhittin; Unay, Bulent; Kurul, Semra Hiz; Yis, Uluc 分享 收藏 Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsyvan der Knoop, Marieke M.; Maroofian, Reza; Fukata, Yuko; van Ierland, Yvette; Karimiani, Ehsan G.; Lehesjoki, Anna Elina; Muona, Mikko; Paetau, Anders; Miyazaki, Yuri; Hirano, Yoko; Selim, Laila; de Franca, Marina; Fock, Rodrigo Ambrosio; Beetz, Christian; Ruivenkamp, Claudia A. L.; Eaton, Alison J.; Morneau-Jacob, Francois D.; Sagi-Dain, Lena; Shemer-Meiri, Lilach; Peleg, Amir; Haddad-Halloun, Jumana; Kamphuis, Daan J.; Peeters-Scholte, Cacha M. P. C. D.; Kurul, Semra Hiz; Horvath, Rita; Lochmueller, Hanns; Murphy, David; Waldmueller, Stephan; Spranger, Stephanie; Overberg, David; Muir, Alison M.; Rad, Aboulfazl; Vona, Barbara; Abdulwahad, Firdous; Maddirevula, Sateesh; Povolotskaya, Inna S.; Voinova, Victoria Y.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Alkuraya, Fowzan S.; Mefford, Heather C.; Alfadhel, Majid; Haack, Tobias B.; Striano, Pasquale; Severino, Mariasavina; Fukata, Masaki; Hilhorst-Hofstee, Yvonne; Houlden, Henry 分享 收藏 High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseasesKurul, Semra Hiz; Oktay, Yavuz; Topf, Ana; Szabo, Nora Zs; Gungor, Serdal; Yaramis, Ahmet; Sonmezler, Ece; Matalonga, Leslie; Yis, Uluc; Schon, Katherine; Paramonov, Ida; Kalafatcilar, Ipek Polat; Gao, Fei; Rieger, Aliz; Arslan, Nur; Yilmaz, Elmasnur; Ekinci, Burcu; Edem, Pinar Pulat; Aslan, Mahmut; Ozgor, Bilge; Lochmuller, Angela; Nair, Ashwati; O'Heir, Emily; Lovgren, Alysia K.; Maroofian, Reza; Houlden, Henry; Polavarapu, Kiran; Roos, Andreas; Muller, Juliane S.; Hathazi, Denisa; Chinnery, Patrick F.; Laurie, Steven; Beltran, Sergi; Lochmueller, Hanns; Horvath, Rita 分享 收藏 Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 PatientsTraschuetz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; de Ridder, Willem; Bereau, Matthieu; Demuth, Stephanie; Ganos, Christos; Basak, A. Nazli; Hanagasi, Hasmet; Kurul, Semra Hiz; Bender, Benjamin; Schoels, Ludger; Grasshoff, Ute; Klopstock, Thomas; Horvath, Rita; van de Warrenburg, Bart; Burglen, Lydie; Rougeot, Christelle; Ewenczyk, Claire; Koenig, Michel; Santorelli, Filippo M.; Anheim, Mathieu; Munhoz, Renato P.; Haack, Tobias; Distelmaier, Felix; Pagliarini, David J.; Puccio, Helene; Synofzik, Matthis 分享 收藏 Neuroprotective Effects of Lacosamide and Memantine on Hyperoxic Brain Injury in RatsPolat, Ipek; Micili, Serap Cilaker; Calisir, Meryem; Bayram, Erhan; Yis, Uluc; Ayanoglu, Muge; Okur, Derya; Edem, Pnar; Paketci, Cem; Tugyan, Kazim; Yilmaz, Osman; Kurul, Semra Hiz 分享 收藏 分享 收藏 Clinical, Radiological, and Genetic Survey of Patients With Muscle-Eye-Brain Disease Caused by Mutations in POMGNT1Yis, Uluc; Uyanik, Goekhan; Rosendahl, Deborah Morris; Carman, Kursat Bora; Bayram, Erhan; Heise, Marisol; Comertpay, Gamze; Kurul, Semra Hiz 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Assessment of Citrullinated Myelin by 1H-MR Spectroscopy in Early-Onset Multiple SclerosisOguz, K. K.; Kurne, A.; Aksu, A. O.; Karabulut, E.; Serdaroglu, A.; Teber, S.; Haspolat, S.; Senbil, N.; Kurul, S.; Anlar, B. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 
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