未登录Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients
Ganoza, Christian A.; Westenberger, Ana; Paul, Jefri J.; Curado, Filipa; Rennecke, Jorg; Mannepalli, Sumanth; Zonic, Emir; Saravanakumar, Deepa; Paknia, Omid; Al-ali, Ruslan; Laabs, Bjorn-hergen; Csoti, Ilona; Valzania, Franco; Vandenberghe, Wim; Reetz, Katrin; Afshari, Mitra; Hassin-Baer, Sharon; Fonoff, Erich Talamoni; Gruber, Doreen; de Rosa, Anna; Musacchio, Thomas; De Carvalho Aguiar, Patricia; Negrotti, Anna; Tumas, Vitor; Gomez-esteban, Juan Carlos; Gurevich, Tanya; Pavese, Nicola; Kulisevsky, Jaime; Sammler, Esther; Klein, Christine; Bauer, Peter; Beetz, Christian .png)
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收藏RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe CriteriaRAB32-相关帕金森病：深度表型分析、MDSGene文献综述及SynNeurGe标准的应用Kleinz, Teresa; Cavallieri, Francesco; Borsche, Max; Toschi, Giulia; Valzania, Franco; Fioravanti, Valentina; Valente, Enza Maria; Mitrotti, Pierfrancesco; Avenali, Micol; Zittel, Simone; Born, Rommi; Matarazzo, Michele; Di Fonzo, Alessio; Monfrini, Edoardo; Radefeldt, Mandy; Santinelli, Letizia; Griebner, Norman; Shambetova, Cholpon; Brand, Max; Gabbert, Carolin; Blauwendraat, Cornelis; Trinh, Joanne; Lohmann, Katja; Beetz, Christian; Bauer, Peter; Bruggemann, Norbert; Klein, Christine 分享 收藏 Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway双等位基因的LGI1和ADAM23变异通过LGI1-ADAM22/23通路导致海马癫痫性脑病。Hirano, Yoko; Miyazaki, Yuri; Ishikawa, Daisuke; Inahashi, Hiroki; Al-Hassnan, Zuhair Nasser; Zifarelli, Giovanni; Bauer, Peter; Alvi, Javeria Raza; Sultan, Tipu; Thompson, Michelle L.; Sezer, Abdullah; Konuskan, Bahadir; Hajir, Razan S.; El-Hattab, Ayman W.; Efthymiou, Stephanie; Ishida, Ayuki; Yokoi, Norihiko; Kornau, Hans-Christian; Schmitz, Dietmar; Pruess, Harald; Houlden, Henry; Ikegaya, Yuji; Fukata, Yuko; Fukata, Masaki; Maroofian, Reza 分享 收藏 FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signatureFBXO22缺乏定义了一种具有生长受限和多系统异常的累及多系统的综合征，其特征是具有独特的表观遗传标志。Ramakrishna, NB; Sahari, UB; Johmura, Y; Ali, NA; Alghamdi, M; Bauer, P; Khan, S; Ordoñez, N; Ferreira, M; Basto, JP; Alkuraya, FS; Faqeih, EA; Mori, M; Almontashiri, NAM; Al Shamsi, A; Elghazali, G; Abu Subieh, H; Al Ojaimi, M; El-Hattab, AW; Al-Kindi, SAS; Alhashmi, N; Alhabshan, F; Al Saman, A; Tfayli, H; Arabi, M; Khalifeh, S; Taylor, A; Alfadhel, M; Jain, R; Sinha, S; Shenbagam, S; Ramachandran, R; Altunoglu, U; Jacob, A; Thalange, N; El Bejjani, M; Perrin, A; Shin, JW; Al-Maawali, A; Al-Shidhani, A; Al-Futaisi, A; Rabea, F; Chekroun, I; Almarri, MA; Ohta, T; Nakanishi, M; Alsheikh-Ali, A; Ali, FR; Bertoli-Avella, AM; Reversade, B; Abou Tayoun, A 分享 收藏 Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiencyThomas, Huw B.; Demain, Leigh A. M.; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E.; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B.; Olahova, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M.; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N.; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D.; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W.; Munro, Kevin J.; Alkuraya, Fowzan S.; Jamieson, Peter; Ahmed, Zubair M.; Leal, Suzanne M.; Taylor, Robert W.; Wittig, Ilka; O'Keefe, Raymond T.; Newman, William G. 分享 收藏 Plasma Glucosylceramide Levels Are Regulated by ATP10D and Are Not Involved in Parkinson's Disease PathogenesisSomerville, Emma N.; James, Alva; Beetz, Christian; Schwieger, Robert; Barrel, Gal; Kandaswamy, Krishna K.; Iurascu, Marius I.; Bauer, Peter; Ta, Michael; Iwaki, Hirotaka; Senkevich, Konstantin; Yu, Eric; Alcalay, Roy N.; Gan-Or, Ziv 分享 收藏 Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic settingBertoli-Avella, Aida M.; Radefeldt, Mandy; Al-Ali, Ruslan; Pardo, Luba M.; Lemke, Sabrina; Leubauer, Anika; Polla, Daniel L.; Hoernicke, Rebecca; Almeida, Ligia S.; Kandaswamy, Krishna Kumar; Beetz, Christian; Basto, Jorge Pinto; Bauer, Peter 分享 收藏 Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault- syndrome-spectrum phenotypeSmith, Thomas B.; Kopajtich, Robert; Demain, Leigh A. M.; Rea, Alessandro; Thomas, Huw B.; Schiff, Manuel; Beetz, Christian; Joss, Shelagh; Conway, Gerard S.; Shukla, Anju; Yeole, Mayuri; Radhakrishnan, Periyasamy; Azzouz, Hatem; Ben Chehida, Amel; Elmaleh-Berges, Monique; Glasgow, Ruth I. C.; Thompson, Kyle; Olahova, Monika; He, Langping; Jenkinson, Emma M.; Jahic, Amir; Belyantseva, Inna A.; Barzik, Melanie; Urquhart, Jill E.; O'Sullivan, James; Williams, Simon G.; Bhaskar, Sanjeev S.; Carrera, Samantha; Blakes, Alexander J. M.; Banka, Siddharth; Yue, Wyatt W.; Ellingford, Jamie M.; Houlden, Henry; DDD Study, D. D. D.; Munro, Kevin J.; Friedman, Thomas B.; Taylor, Robert W.; Prokisch, Holger; Keefe, Raymond T.; Newman, William G. 分享 收藏 Exploring environmental modifiers of LRRK2-associated Parkinson's disease penetrance: An exposomics and metagenomics pilot study on household dustAndujar, Begona Talavera; Pereira, Sandro L.; Busi, Susheel Bhanu; Usnich, Tatiana; Borsche, Max; Ertan, Sibel; Bauer, Peter; Rolfs, Arndt; Hezzaz, Soraya; Ghelfi, Jenny; Brueggemann, Norbert; Antony, Paul; Wilmes, Paul; Klein, Christine; Gruenewald, Anne; Schymanski, Emma L. 分享 收藏 Genetic and Epidemiological Insights into RAB32-Linked Parkinson's DiseaseRAB32-Linked帕金森病的遗传和流行病学见解Radefeldt, Mandy; Lemke, Sabrina; Chaichoompu, Kridsadakorn; Paul, Jefri Jeya; Curado, Filipa; Valzania, Franco; Cavallieri, Francesco; Fioravanti, Valentina; Valente, Enza Maria; Avenali, Micol; Negrotti, Anna; Hanagasi, Hasmet A.; Thonke, Sven; Matarazzo, Michele; Panzavolta, Andrea; Cerami, Chiara; Westenberger, Ana; Klein, Christine; Bauer, Peter; Beetz, Christian 分享 收藏 Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 Participants遗传性转甲状腺素蛋白相关淀粉样变性正在进行的观察性研究: 前3167名参与者的基线报告Roesner, Sabine; Pardo, Luba M.; Bertoli-Avella, Aida M.; Skrahina, Volha; Engel, Pierre; Schroeder, Sabine; Zielske, Susan; Bonke, Valerie; Kreth, Janett; Westphal, Gina; Reder, Felix; Skobalj, Snezana; Zielke, Susanne; Bogdanovic, Xenia; Grieger, Paula; Rennecke, Joerg; Skripuletz, Thomas; Patten, Monica; Assmus, Birgit; Hahn, Katrin; Rolfs, Arndt; Bauer, Peter 分享 收藏 Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype (vol 18, 95, 2024)Elsayed, Liena Elbaghir Omer; Alharbi, Norah Ayed; Alqarni, Ashwaq Mohammed; Eltayeb, Huda Hussein Elwasila; Mostafa, Noura Mostafa Mohamed; Abdulrahim, Maha Mohammed; Bin Zaid, Hadeel Ibrahim; Alanzi, Latifah Mansour; Ababtain, Sarah Abdullah; Aldulaijan, Khawlah; Aloyouni, Sheka Yagub; Othman, Moneeb Abdullah Kassem; Alkheilewi, Mohammad Abdullah; Binduraihem, Adel Mohammed; Alrukban, Hadeel Abdollah; Ahmed, Hiba Yousif; Alradini, Faten Abdullah; Alahdal, Hadil Mohammad; Mushiba, Aziza Mufareh; Alzaher, Omaima Abdulazeem 分享 收藏 分享 收藏 A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic diseaseMolitor, Anne; Lederle, Alexandre; Radosavljevic, Mirjana; Sapuru, Vinay; Zavorka Thomas, Megan E.; Yang, Jianying; Shirin, Mahsa; Collin-Bund, Virginie; Jerabkova-Roda, Katerina; Miao, Zhichao; Bernard, Alice; Rolli, Veronique; Grenot, Pierre; Castro, Carla Noemi; Rosenzwajg, Michelle; Lewis, Elyssa G.; Person, Richard; Esperon-Moldes, Uxia-Saraiva; Kaare, Milja; Nokelainen, Pekka T.; Batzir, Nurit Assia; Hoffer, Gal Zaks; Paul, Nicodeme; Stemmelen, Tristan; Naegely, Lydie; Hanauer, Antoine; Bibi-Triki, Sabrina; Gruen, Sarah; Jung, Sophie; Busnelli, Ignacio; Tripolszki, Kornelia; Al-Ali, Ruslan; Ordonez, Natalia; Bauer, Peter; Song, Eunkyung; Zajo, Kristin; Partida-Sanchez, Santiago; Robledo-Avila, Frank; Kumanovics, Attila; Louzoun, Yoram; Hirschler, Aurelie; Pichot, Angelique; Toker, Ori; Mejia, Cesar Andres Munoz; Parvaneh, Nima; Knapp, Esther; Hersh, Joseph H.; Kenney, Heather; Delmonte, Ottavia M.; Notarangelo, Luigi D.; Goetz, Jacky G.; Kahwash, Samir B.; Carapito, Christine; Bajwa, Rajinder P. S.; Thomas, Caroline; Ehl, Stephan; Isidor, Bertrand; Carapito, Raphael; Abraham, Roshini S.; Hite, Richard K.; Marcus, Nufar; Bertoli-Avella, Aida; Bahram, Seiamak 分享 收藏 Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotypeElsayed, Liena Elbaghir Omer; AlHarbi, Norah Ayed; Alqarni, Ashwaq Mohammed; Eltayeb, Huda Hussein Elwasila; Mostafa, Noura Mostafa Mohamed; Abdulrahim, Maha Mohammed; Bin Zaid, Hadeel Ibrahim; Alanzi, Latifah Mansour; Ababtain, Sarah Abdullah; Aldulaijan, Khawlah; Aloyouni, Sheka Yagub; Othman, Moneeb Abdullah Kassem; Alkheilewi, Mohammad Abdullah; Binduraihem, Adel Mohammed; Alrukban, Hadeel Abdollah; Ahmed, Hiba Yousif; Alradini, Faten Abdullah; Alahdal, Hadil Mohammad; Mushiba, Aziza Mufareh; Alzaher, Omaima Abdulazeem 分享 收藏 Clinical and neuroradiological spectrum of biallelic variants in NOTCH3Iruzubieta, Pablo; Alves, Cesar Augusto Pinheiro Ferreira; Al Shamsi, Aisha M.; Elghazali, Gehad; Zaki, Maha S.; Pinelli, Lorenzo; Lopergolo, Diego; Cho, Bernard P. H.; Jolly, Amy A.; Al Futaisi, Amna; Al-Amrani, Fatema; Galli, Jessica; Fazzi, Elisa; Vulin, Katarina; Barajas-Olmos, Francisco; Hengel, Holger; Aljamal, Bayan Mohammed; Nasr, Vahideh; Assarzadegan, Farhad; Ragno, Michele; Trojano, Luigi; Ojeda, Naomi Meave; Cakar, Arman; Bianchi, Silvia; Pescini, Francesca; Poggesi, Anna; Al Tenalji, Amal; Aziz, Majid; Mohammad, Rahema; Chedrawi, Aziza; De Stefano, Nicola; Zifarelli, Giovanni; Schoels, Ludger; Haack, Tobias B.; Rebelo, Adriana; Zuchner, Stephan; Koc, Filiz; Griffiths, Lyn R.; Orozco, Lorena; Helmes, Karla Garcia; Babaei, Meisam; Bauer, Peter; Jeong, Won Chan; Karimiani, Ehsan Ghayoor; Schmidts, Miriam; Gleeson, Joseph G.; Chung, Wendy K.; Alkuraya, Fowzan Sami; Shalbafan, Bita; Markus, Hugh S.; Houlden, Henry; Maroofian, Reza 分享 收藏 Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial gliaPNPLA8中的双等位基因无效变体通过减少基底radial胶质细胞的数量而引起小头畸形Nakamura, Yuji; Shimada, Issei S.; Maroofian, Reza; Falabella, Micol; Zaki, Maha S.; Fujimoto, Masanori; Sato, Emi; Takase, Hiroshi; Aoki, Shiho; Miyauchi, Akihiko; Koshimizu, Eriko; Miyatake, Satoko; Arioka, Yuko; Honda, Mizuki; Higashi, Takayoshi; Miya, Fuyuki; Okubo, Yukimune; Ogawa, Isamu; Scardamaglia, Annarita; Miryounesi, Mohammad; Alijanpour, Sahar; Ahmadabadi, Farzad; Herkenrath, Peter; Dafsari, Hormos Salimi; Velmans, Clara; Al Balwi, Mohammed; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Jeanne, Mederic; Civit, Antoine; Abdel-Hamid, Mohamed S.; Naderi, Hamed; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Carroll, Christopher J.; Karimiani, Ehsan Ghayoor; Khailany, Rozhgar A.; Abdulqadir, Talib Adil; Ozaslan, Mehmet; Bauer, Peter; Zifarelli, Giovanni; Seifi, Tahere; Zamani, Mina; Al Alam, Chadi; Alvi, Javeria Raza; Sultan, Tipu; Efthymiou, Stephanie; Pope, Simon A. S.; Haginoya, Kazuhiro; Matsunaga, Tamihide; Osaka, Hitoshi; Matsumoto, Naomichi; Ozaki, Norio; Ohkawa, Yasuyuki; Oki, Shinya; Tsunoda, Tatsuhiko; Pitceathly, Robert D. S.; Taketomi, Yoshitaka; Houlden, Henry; Murakami, Makoto; Kato, Yoichi; Saitoh, Shinji 分享 收藏 Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseasesVelasco, Harvy Mauricio; Bertoli-Avella, Aida; Jaramillo, Carolina Jaramillo; Cardona, Danny Styvens; Gonzalez, Leonel Andres; Vanegas, Melisa Naranjo; Arango, Juan Pablo Valencia; Buitrago, Cesar Augusto; Gonzalez, Jorge Alberto Gutierrez; Marcello, Jonas; Bauer, Peter; Moncada, Juliana Espinosa 分享 收藏 Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement DisordersOrtigoza-Escobar, Juan Dario; 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, Nuria; 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; Stromme, Petter; Efthymiou, Stephanie; Alkuraya, Fowzan S.; Moreno-De-Luca, Andres; Burglen, Lydie; Houlden, Henry; Maroofian, Reza 分享 收藏 分享 收藏 
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