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收藏Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathyCOX18基因的双等位基因变异会导致一种主要表现为周围神经病的线粒体疾病。
Armirola-Ricaurte, Camila; Morant, Laura; Adant, Isabelle; Hamed, Sherifa A.; Pipis, Menelaos; Efthymiou, Stephanie; Amor-Barris, Silvia; Atkinson, Derek; Van de Vondel, Liedewei; Tomic, Aleksandra; Seneca, Sara; de Vriendt, Els; Zuchner, Stephan; Ghesquiere, Bart; Hanna, Michael G.; Houlden, Henry; Lunn, Michael P.; Reilly, Mary M.; Rasic, Vedrana Milic; Jordanova, Albena 分享 收藏 The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophyGavazzi, Francesco; Charsar, Brittany; Hamilton, Eline; Erler, Jacqueline A.; Patel, Virali; Woidill, Sarah; Sevagamoorthy, Anjana; Helman, Guy; Schmidt, Johanna; Pizzino, Amy; Muirhead, Kayla; Takanohashi, Asako; Bonkowsky, Joshua L.; Meyerhoffer, Kelsee; Simons, Cas; Doi, Hiroshi; Satoko, Miyatake; Matsumoto, Naomichi; Delgado, Mauricio R.; Sanchez-Castillo, Meredith; Wang, Jingming; de Carvalho, Daniel Rocha; Tournev, Ivailo; Chamova, Teodora; Jordanova, Albena; Clegg, Nancy J.; Nicita, Francesco; Bertini, Enrico; Teng, Michelle; Williams, Dan; Tonduti, Davide; Houlden, Henry; Stellingwerff, Menno; Wassmer, Evangeline; Garcia-Cazorla, Angeles; Bernard, Genevieve; Mirchi, Amytice; Toutounchi, Helia; Wolf, Nicole I.; van der Knaap, Marjo S.; Shults, Justine; Adang, Laura A.; Vanderver, Adeline L. 分享 收藏 Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disordersCalianese, David C.; Noji, Tomoyasu; Sullivan, Jennifer A.; Schoch, Kelly; Shashi, Vandana; McNiven, Vanda; Ramos, Luiza Lorena Pires; Jordanova, Albena; Karteszi, Judit; Ishikita, Hiroshi; Nagata, Shigekazu 分享 收藏 Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disordersArmirola-Ricaurte, Camila; Zonnekein, Noortje; Koutsis, Georgios; Amor-Barris, Silvia; Pelayo-Negro, Ana Lara; Atkinson, Derek; Efthymiou, Stephanie; Turchetti, Valentina; Dinopoulos, Argyris; Garcia, Antonio; Karakaya, Mert; Moris, German; Polat, Ayse Ipek; Yis, Uluc; Espinos, Carmen; Van de Vondel, Liedewei; De Vriendt, Els; Karadima, Georgia; Wirth, Brunhilde; Hanna, Michael; Houlden, Henry; Berciano, Jose; Jordanova, Albena 分享 收藏 Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling酪氨酰-tRNA合成酶在肌动蛋白捆绑中具有非常规功能Ermanoska, Biljana; Asselbergh, Bob; Morant, Laura; Petrovic-Erfurth, Maria-Luise; Hosseinibarkooie, Seyyedmohsen; Leitao-Goncalves, Ricardo; Almeida-Souza, Leonardo; Bervoets, Sven; Sun, Litao; Lee, LaTasha; Atkinson, Derek; Khanghahi, Akram; Tournev, Ivaylo; Callaerts, Patrick; Verstreken, Patrik; Yang, Xiang-Lei; Wirth, Brunhilde; Rodal, Avital A.; Timmerman, Vincent; Goode, Bruce L.; Godenschwege, Tanja A.; Jordanova, Albena 分享 收藏 HINT1 neuropathy in Lithuania: clinical, genetic, and functional profilingMalcorps, Matilde; Amor-Barris, Silvia; Burnyte, Birute; Vilimiene, Ramune; Armirola-Ricaurte, Camila; Grigalioniene, Kristina; Ekshteyn, Alexandra; Morkuniene, Ausra; Vaitkevicius, Arunas; De Vriendt, Els; Baets, Jonathan; Scherer, Steven S.; Ambrozaityte, Laima; Utkus, Algirdas; Jordanova, Albena; Peeters, Kristien 分享 收藏 Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from SerbiaPeric, Stojan; Markovic, Vladana; Candayan, Ayse; De Vriendt, Els; Momcilovic, Nikola; Savic, Andrija; Dragasevic-Miskovic, Natasa; Svetel, Marina; Stevic, Zorica; Bozovic, Ivo; Mesaros, Sarlota; Drulovic, Jelena; Basta, Ivana; Petrovic, Igor; Tamas, Olivera; Mijajlovic, Milija; Novakovic, Ivana; Sokic, Dragoslav; Jordanova, Albena 分享 收藏 Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity神经元细胞粘附分子中的双等位基因变体会导致神经发育障碍，其特征是发育迟缓，肌张力低下，神经病/痉挛Kurolap, Alina; Kreuder, Florian; Gonzaga-Jauregui, Claudia; Duvdevani, Morasha Plesser; Harel, Tamar; Tammer, Luna; Xin, Baozhong; Bakhtiari, Somayeh; Rice, James; van Eyk, Clare L.; Gecz, Jozef; Mah, Jean K.; Atkinson, Derek; Cope, Heidi; Sullivan, Jennifer A.; Douek, Alon M.; Colquhoun, Daniel; Henry, Jason; Wlodkowic, Donald; Parman, Yesim; Candayan, Ayse; Kocasoy-Orhan, Elif; Ilivitzki, Anat; Soudry, Shiri; Leibu, Rina; Glaser, Fabian; Sency, Valerie; Ast, Gil; Shashi, Vandana; Fahey, Michael C.; Battalog, Esra; Jordanova, Albena; Meiner, Vardiella; Innes, A. Micheil; Wang, Heng; Elpeleg, Orly; Kruer, Michael C.; Kaslin, Jan; Feldman, Hagit Baris 分享 收藏 Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish CohortCandayan, Ayse; Cakar, Arman; Yunisova, Gulshan; Acarli, Ayse Nur Ozdag; Atkinson, Derek; Topaloglu, Pinar; Durmus, Hacer; Yapici, Zuhal; Jordanova, Albena; Parman, Yesim; Battaloglu, Esra 分享 收藏 分享 收藏 分享 收藏 Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathyBervoets, Sven; Wei, Na; Erfurth, Maria-Luise; Yusein-Myashkova, Shazie; Ermanoska, Biljana; Mateiu, Ligia; Asselbergh, Bob; Blocquel, David; Kakad, Priyanka; Penserga, Tyrone; Thomas, Florian P.; Guergueltcheva, Velina; Tournev, Ivailo; Godenschwege, Tanja; Jordanova, Albena; Yang, Xiang-Lei 分享 收藏 phenotypic and genetic heterogeneity of adult patients with hereditary spastic paraplegia from SerbiaPeric, S.; Markovic, V.; De Vriendt, E.; Estrada-Cuzcano, A.; Svetel, M.; Stojanovic, V. Rakocevic; Dragasevic-Miskovic, N.; Stevic, Z.; Bozovic, I.; Mijajlovic, M.; Mesaros, S.; Drulovic, J.; Novakovic, I.; Kostic, V. S.; Jordanova, A. 分享 收藏 分享 收藏 Expanding the spectrum of genes responsible for hereditary motor neuropathiesPrevitali, Stefano C.; Zhao, Edward; Lazarevic, Dejan; Pipitone, Giovanni Battista; Fabrizi, Gian Maria; Manganelli, Fiore; Mazzeo, Anna; Pareyson, Davide; Schenone, Angelo; Taroni, Franco; Vita, Giuseppe; Bellone, Emilia; Ferrarini, Moreno; Garibaldi, Matteo; Magri, Stefania; Padua, Luca; Pennisi, Elena; Pisciotta, Chiara; Riva, Nilo; Scaioli, Vidmer; Scarlato, Marina; Tozza, Stefano; Geroldi, Alessandro; Jordanova, Albena; Ferrari, Maurizio; Molineris, Ivan; Reilly, Mary M.; Comi, Giancarlo; Carrera, Paola; Devoto, Marcella; Bolino, Alessandra 分享 收藏 Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia (vol 104, pg 767, 2019)Fard, Mohammad Ali Farazi; Rebelo, Adriana P.; Buglo, Elena; Nemati, Hamid; Dastsooz, Hassan; Gehweiler, Ina; Reich, Selina; Reichbauer, Jennifer; Quintans, Beatriz; Ordonez-Ugalde, Andres; Cortese, Andrea; Courel, Steve; Abreu, Lisa; Powell, Eric; Danzi, Matt C.; Martuscelli, Nicole B.; Bis-Brewer, Dana M.; Tao, Feifei; Zarei, Fariba; Habibzadeh, Parham; Yavarian, Majid; Modarresi, Farzaneh; Silawi, Mohammad; Tabatabaei, Zahra; Yousefi, Masoume; Farpour, Hamid Reza; Kessler, Christoph; Mangold, Elisabeth; Kobeleva, Xenia; Tournev, Ivailo; Chamova, Teodora; Mueller, Amelie J.; Haack, Tobias B.; Tarnopolsky, Mark; Gan-Or, Ziv; Rouleau, Guy A.; Synofzik, Matthis; Sobrido, Maria-Jesus; Jordanova, Albena; Schule, Rebecca; Zuchner, Stephan; Faghihi, Mohammad Ali 分享 收藏 Truncating Mutations in UBAP1 Cause Hereditary Spastic ParaplegiaFard, Mohammad Ali Farazi; Rebelo, Adriana P.; Buglo, Elena; Nemati, Hamid; Dastsooz, Hassan; Gehweiler, Ina; Reich, Selina; Reichbauer, Jennifer; Quintans, Beatriz; Ordonez-Ugalde, Andres; Cortese, Andrea; Courel, Steve; Abreu, Lisa; Powell, Eric; Danzi, Matt; Martuscelli, Nicole B.; Bis-Brewer, Dana M.; Tao, Feifei; Zarei, Fariba; Habibzadeh, Parham; Yavarian, Majid; Modarresi, Farzaneh; Silawi, Mohammad; Tabatabaei, Zahra; Yousefi, Masoume; Farpour, Hamid Reza; Kessler, Christoph; Mangold, Elisabeth; Kobeleva, Xenia; Mueller, Amelie J.; Haack, Tobias B.; Tarnopolsky, Mark; Gan-Or, Ziv; Rouleau, Guy A.; Synofzik, Matthis; Sobrido, Maria-Jesus; Jordanova, Albena; Schule, Rebecca; Zuchner, Stephan; Faghihi, Mohammad Ali 分享 收藏 分享 收藏 Novel form of complicated hereditary spastic paraplegia (SPG78), due to mutations in the ATP13A2/PARK9 geneChamova, T.; Estrada-Cuzcano, A.; Martin, S.; Holemans, T.; Andreeva, A.; Rycke, R. D.; Chang, D. I.; van Veen, S.; Samuel, J.; Sorensen, D. M.; Asselbergh, B.; Zuchner, S.; Jordanova, A.; Vangheluwe, P.; Tournev, I. 分享 收藏 
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