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RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria RAB32-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
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Plasma Glucosylceramide Levels Are Regulated by ATP10D and Are Not Involved in Parkinson's Disease Pathogenesis Somerville, 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
CIROZ is dispensable in ancestral vertebrates but essential for left in humans Szenker-Ravi, Emmanuelle; Ott, Tim; Yusof, Amirah; Chopra, Maya; Khatoo, Muznah; Pak, Beatrice; Goh, Wei Xuan; Beckers, Anja; Brady, Angela F.; Ewans, Lisa J.; Djaziri, Nabila; Almontashiri, Naif A. M.; Alghamdi, Malak Ali; Alharby, Essa; Dasouki, Majed; Romo, Lindsay; Tan, Wen-Hann; Maddirevula, Sateesh; Alkuraya, Fowzan S.; Giordano, Jessica L.; Alkelai, Anna; Wapner, Ronald J.; Stals, Karen; Alfadhel, Majid; Alswaid, Abdulrahman Faiz; Bogusch, Susanne; Schafer-Kosulya, Anna; Vogel, Sebastian; Vick, Philipp; Schweickert, Axel; Wakeling, Matthew; Bellaing, Anne Moreau de; Alshamsi, Aisha M.; Sanlaville, Damien; Mbarek, Hamdi; Saad, Chadi; Ellard, Sian; Eisenhaber, Frank; Tripolszki, Kornelia; Beetz, Christian; Bauer, Peter; Gossler, Achim; Eisenhaber, Birgit; Blum, Martin; Bouvagnet, Patrice; Bertoli-Avella, Aida; Amiel, Jeanne; Gordon, Christopher T.; Reversade, Bruno 分享 收藏
18F-FDG PET findings in Parkinson's disease associated to RAB32 S71R variant Cavallieri, Francesco; Fraternali, Alessandro; Arnone, Annachiara; Fioravanti, Valentina; Monfrini, Edoardo; Di Biasio, Francesca; Toschi, Giulia; Di Rauso, Giulia; Portaro, Giacomo; Grisanti, Sara; Salomone, Gaetano; Kleinz, Teresa; Mandich, Paola; Paul, Jefri J.; Beetz, Christian; Bauer, Peter; Ko, Ji Hyun; Bauckneht, Matteo; Strafella, Antonio P.; Filice, Angelina; Di Fonzo, Alessio; Klein, Christine; Melpignano, Andrea; Valzania, Franco 分享 收藏
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting Bertoli-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 phenotype Smith, 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
Genetic and Epidemiological Insights into RAB32-Linked Parkinson's Disease RAB32-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
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study 基因靶向试验时代基因检测的相关性: 罗斯托克帕金森病研究 Westenberger, Ana; Skrahina, Volha; Usnich, Tatiana; Beetz, Christian; Vollstedt, Eva-Juliane; Laabs, Bjoern-Hergen; Paul, Jefri J.; Curado, Filipa; Skobalj, Snezana; Gaber, Hanaa; Olmedillas, Maria; Bogdanovic, Xenia; Ameziane, Najim; Schell, Nathalie; Aasly, Jan Olav; Afshari, Mitra; Agarwal, Pinky; Aldred, Jason; Alonso-Frech, Fernando; Anderson, Roderick; Araujo, Rui; Arkadir, David; Avenali, Micol; Balal, Mehmet; Benizri, Sandra; Bette, Sagari; Bhatia, Perminder; Bonello, Michael; Braga-Neto, Pedro; Brauneis, Sarah; Cardoso, Francisco Eduardo Costa; Cavallieri, Francesco; Classen, Joseph; Cohen, Lisa; Coletta, Della; Crosiers, David; Cullufi, Paskal; Dashtipour, Khashayar; Demirkiran, Meltem; Aguiar, Patricia de Carvalho; De Rosa, Anna; Djaldetti, Ruth; Dogu, Okan; Ghilardi, Maria Gabriela dos Santos; Eggers, Carsten; Elibol, Bulent; Ellenbogen, Aaron; Ertan, Sibel; Fabiani, Giorgio; Falkenburger, Bjoern H.; Farrow, Simon; Fay-Karmon, Tsviya; Ferencz, Gerald J.; Fonoff, Erich Talamoni; Fragoso, Yara Dadalti; Genc, Gencer; Gorospe, Arantza; Grandas, Francisco; Gruber, Doreen; Gudesblatt, Mark; Gurevich, Tanya; Hagenah, Johann; Hanagasi, Hasmet A.; Hassin-Baer, Sharon; Hauser, Robert A.; Hernandez-Vara, Jorge; Herting, Birgit; Hinson, Vanessa K.; Hogg, Elliot; Hu, Michele T.; Hummelgen, Eduardo; Hussey, Kelly; Infante, Jon; Isaacson, Stuart H.; Jauma, Serge; Koleva-Alazeh, Natalia; Kuhlenbaeumer, Gregor; Kuehn, Andrea; Litvan, Irene; Lopez-Manzanares, Lydia; Luxmore, McKenzie; Manandhar, Sujeena; Marcaud, Veronique; Markopoulou, Katerina; Marras, Connie; McKenzie, Mark; Matarazzo, Michele; Merello, Marcelo; Mollenhauer, Brit; Morgan, John C.; Mullin, Stephen; Musacchio, Thomas; Myers, Bennett; Negrotti, Anna; Nieves, Anette; Nitsan, Zeev; Oskooilar, Nader; Oztop-Cakmak, Ozgur; Pal, Gian; Pavese, Nicola; Percesepe, Antonio; Piccoli, Tommaso; de Souza, Carolina Pinto; Prell, Tino; Pulera, Mark; Raw, Jason; Reetz, Kathrin; Reiner, Johnathan; Rosenberg, David; Ruiz-Lopez, Marta; Martinez, Javier Ruiz; Sammler, Esther; Santos-Lobato, Bruno Lopes; Saunders-Pullman, Rachel; Schlesinger, Ilana; Schofield, Christine M.; Schumacher-Schuh, Artur F.; Scott, Burton; Sesar, ngel; Shafer, Stuart J.; Sheridan, Ray; Silverdale, Monty; Sophia, Rani; Spitz, Mariana; Stathis, Pantelis; Stocchi, Fabrizio; Tagliati, Michele; Tai, Yen F.; Terwecoren, Annelies; Thonke, Sven; Toenges, Lars; Toschi, Giulia; Tumas, Vitor; Urban, Peter Paul; Vacca, Laura; Vandenberghe, Wim; Valente, Enza Maria; Valzania, Franco; Vela-Desojo, Lydia; Weill, Caroline; Weise, David; Wojcieszek, Joanne; Wolz, Martin; Yahalom, Gilad; Yalcin-Cakmakli, Gul; Zittel, Simone; Zlotnik, Yair; Kandaswamy, Krishna K.; Balck, Alexander; Hanssen, Henrike; Borsche, Max; Lange, Lara M.; Csoti, Ilona; Lohmann, Katja; Kasten, Meike; Brueggemann, Norbert; Rolfs, Arndt; Klein, Christine; Bauer, Peter 分享 收藏
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease Husain, Ralf A.; Jiao, Xinfu; Hennings, J. Christopher; Giesecke, Jan; Palsule, Geeta; Beck-Woedl, Stefanie; Osmanovic, Dina; Bjorgo, Kathrine; Mir, Asif; Ilyas, Muhammad; Abbasi, Saad M.; Efthymiou, Stephanie; Dominik, Natalia; Maroofian, Reza; Houlden, Henry; Rankin, Julia; Pagnamenta, Alistair T.; Nashabat, Marwan; Altwaijri, Waleed; Alfadhel, Majid; Umair, Muhammad; Khouj, Ebtissal; Reardon, William; El-Hattab, Ayman W.; Mekki, Mohammed; Houge, Gunnar; Beetz, Christian; Bauer, Peter; Putoux, Audrey; Lesca, Gaetan; Sanlaville, Damien; Alkuraya, Fowzan S.; Taylor, Robert W.; Mentzel, Hans-Joachim; Huebner, Christian A.; Huppke, Peter; Hart, Ronald P.; Haack, Tobias B.; Kiledjian, Megerditch; Rubio, Ignacio 分享 收藏
Basic ctDNA Panel Promises Affordable Clinical Validity in Colon Cancer Patients but Not in Pancreas Cancer Patients Radefeldt, Mandy; Stellmacher-Kaiser, Silke; Krake, Susann; Kragl, Brigitte; Lemke, Sabrina; Beetz, Christian; Bauer, Peter; Junghanss, Christian; Al-Ali, Ruslan; Frietze, Seth E. 分享 收藏
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W.; Godwin, Annie; Zaki, Maha S.; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Karimiani, Ehsan Ghayoor; Hempel, Maja; Normand, Elizabeth A.; Rudnik-Schoeneborn, Sabine; Schatz, Ulrich A.; Baggelaar, Marc P.; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Tayfun, Gulsen Akay; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asilova, Nilufar; Shotelersuk, Vorasuk; Yeetong, Patra; Azam, Matloob; Babaei, Meisam; Monajemi, Gholamreza Bahrami; Mohammadi, Pouria; Samie, Saeed; Banu, Selina Husna; Basto, Jorge Pinto; Kortuem, Fanny; Bauer, Mislen; Bauer, Peter; Beetz, Christian; Garshasbi, Masoud; Issa, Awatif Hameed; Eyaid, Wafaa; Ahmed, Hind; Hashemi, Narges; Hassanpour, Kazem; Herman, Isabella; Ibrohimov, Sherozjon; Abdul-Majeed, Ban A.; Imdad, Maria; Isrofilov, Maksudjon; Kaiyal, Qassem; Khan, Suliman; Kirmse, Brian; Koster, Janet; Lourenco, Charles Marques; Mitani, Tadahiro; Moldovan, Oana; Murphy, David; Najafi, Maryam; Pehlivan, Davut; Rocha, Maria Eugenia; Salpietro, Vincenzo; Schmidts, Miriam; Shalata, Adel; Mahroum, Mohammad; Talbeya, Jawabreh Kassem; Taylor, Robert W.; Vazquez, Dayana; Vetro, Annalisa; Waterham, Hans R.; Zaman, Mashaya; Schrader, Tina A.; Chung, Wendy K.; Guerrini, Renzo; Lupski, James R.; Gleeson, Joseph; Suri, Mohnish; Jamshidi, Yalda; Bhatia, Kailash P.; Vona, Barbara; Schrader, Michael; Severino, Mariasavina; Guille, Matthew; Tate, Edward W.; Varshney, Gaurav K.; Houlden, Henry; Maroofian, Reza 分享 收藏
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Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naive Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study Curado, Filipa; Roesner, Sabine; Zielke, Susanne; Westphal, Gina; Grittner, Ulrike; Skrahina, Volha; Alasel, Mohammed; Malik, Ahmad Mehmood; Beetz, Christian; Boettcher, Tobias; Barel, Gal; Sah, Ashish Prasad; Dinur, Tama; Anjum, Nadeem; Ichraf, Quidad; Kriouile, Yamna; Hadipour, Zahra; Hadipour, Fatemeh; Revel-Vilk, Shoshana; Cozma, Claudia; Hartkamp, Joerg; Cheema, Huma; Zimran, Ari; Bauer, Peter; Rolfs, Arndt 分享 收藏
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders 双等位基因MED27变体导致运动障碍的可变脑-小脑-变性 Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S.; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yesil, Goezde; Alavi, Shahryar; Al Shamsi, Aisha M.; Tajsharghi, Homa; Abdel-Hamid, Mohamed S.; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schoeneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E.; Marom, Daphna; Elhanan, Emil; Kurian, Manju A.; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Juergen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayca Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskaer, Katarina; Al Aqeel, Aida, I; High, Frances A.; Armstrong-Javors, Amy E.; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A.; Ghavideldarestani, Maryam; Kamel, Walaa A.; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C.; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J.; Alkuraya, Fowzan Sami; Lupski, James R.; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K.; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina 分享 收藏
Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions Westenberger, Ana; Ruiz-Herrera, Adriana; Bozdogan, Sevcan; Bisgin, Atil; Almuqbil, Mohammed; Alhashem, Amal; Alanzi, Talal; Romito, Antonio; Rolfs, Arndt; Dias, Patricia; Silva, Raquel Gouveia; Bertoli-Avella, Aida M.; Bauer, Peter; Beetz, Christian 分享 收藏
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