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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome 1-gen-2024 Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Calì, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G; Abdel-Hamid, Mohamed S; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y; Elbendary, Hasnaa M; Rafat, Karima; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Khadivi Zand, Farhad; Beiraghi Toosi, Mehran; Babaei, Meisam; Jackson, Adam; Bertoli-Avella, Aida; Pagnamenta, Alistair T; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K; Green, Rachel; Alkuraya, Fowzan S; Jepson, James E C; Houlden, Henry; Delvecchio, Maurizio
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia 1-gen-2021 Yap, Z. Y.; Efthymiou, S.; Seiffert, S.; Vargas Parra, K.; Lee, S.; Nasca, A.; Maroofian, R.; Schrauwen, I.; Pendziwiat, M.; Jung, S.; Bhoj, E.; Striano, P.; Mankad, K.; Vona, B.; Cuddapah, S.; Wagner, A.; Alvi, J. R.; Davoudi-Dehaghani, E.; Fallah, M. -S.; Gannavarapu, S.; Lamperti, C.; Legati, A.; Murtaza, B. N.; Nadeem, M. S.; Rehman, M. U.; Saeidi, K.; Salpietro, Vincenzo; von Spiczak, S.; Sandoval, A.; Zeinali, S.; Zeviani, M.; Reich, A.; Jang, C.; Helbig, I.; Barakat, T. S.; Ghezzi, D.; Leal, S. M.; Weber, Y.; Houlden, H.; Yoon, W. H.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 1-gen-2021 Richard, E. M.; Bakhtiari, S.; Marsh, A. P. L.; Kaiyrzhanov, R.; Wagner, M.; Shetty, S.; Pagnozzi, A.; Nordlie, S. M.; Guida, B. S.; Cornejo, P.; Magee, H.; Liu, J.; Norton, B. Y.; Webster, R. I.; Worgan, L.; Hakonarson, H.; Li, J.; Guo, Y.; Jain, M.; Blesson, A.; Rodan, L. H.; Abbott, M. -A.; Comi, A.; Cohen, J. S.; Alhaddad, B.; Meitinger, T.; Lenz, D.; Ziegler, A.; Kotzaeridou, U.; Brunet, T.; Chassevent, A.; Smith-Hicks, C.; Ekstein, J.; Weiden, T.; Hahn, A.; Zharkinbekova, N.; Turnpenny, P.; Tucci, A.; Yelton, M.; Horvath, R.; Gungor, S.; Hiz, S.; Oktay, Y.; Lochmuller, H.; Zollino, M.; Morleo, M.; Marangi, G.; Nigro, V.; Torella, A.; Pinelli, M.; Amenta, S.; Husain, R. A.; Grossmann, B.; Rapp, M.; Steen, C.; Marquardt, I.; Grimmel, M.; Grasshoff, U.; Korenke, G. C.; Owczarek-Lipska, M.; Neidhardt, J.; Radio, F. C.; Mancini, C.; Claps Sepulveda, D. J.; Mcwalter, K.; Begtrup, A.; Crunk, A.; Guillen Sacoto, M. J.; Person, R.; Schnur, R. E.; Mancardi, M. M.; Kreuder, F.; Striano, P.; Zara, F.; Chung, W. K.; Marks, W. A.; van Eyk, C. L.; Webber, D. L.; Corbett, M. A.; Harper, K.; Berry, J. G.; Maclennan, A. H.; Gecz, J.; Tartaglia, M.; Salpietro, Vincenzo; Christodoulou, J.; Kaslin, J.; Padilla-Lopez, S.; Bilguvar, K.; Munchau, A.; Ahmed, Z. M.; Hufnagel, R. B.; Fahey, M. C.; Maroofian, R.; Houlden, H.; Sticht, H.; Mane, S. M.; Rad, A.; Vona, B.; Jin, S. C.; Haack, T. B.; Makowski, C.; Hirsch, Y.; Riazuddin, S.; Kruer, M. C.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies 1-gen-2021 Dworschak, G. C.; Punetha, J.; Kalanithy, J. C.; Mingardo, E.; Erdem, H. B.; Akdemir, Z. C.; Karaca, E.; Mitani, T.; Marafi, D.; Fatih, J. M.; Jhangiani, S. N.; Hunter, J. V.; Dakal, T. C.; Dhabhai, B.; Dabbagh, O.; Alsaif, H. S.; Alkuraya, F. S.; Maroofian, R.; Houlden, H.; Efthymiou, S.; Dominik, N.; Salpietro, Vincenzo; Sultan, T.; Haider, S.; Bibi, F.; Thiele, H.; Hoefele, J.; Riedhammer, K. M.; Wagner, M.; Guella, I.; Demos, M.; Keren, B.; Buratti, J.; Charles, P.; Nava, C.; Heron, D.; Heide, S.; Valkanas, E.; Waddell, L. B.; Jones, K. J.; Oates, E. C.; Cooper, S. T.; Macarthur, D.; Syrbe, S.; Ziegler, A.; Platzer, K.; Okur, V.; Chung, W. K.; O'Shea, S. A.; Alcalay, R.; Fahn, S.; Mark, P. R.; Guerrini, R.; Vetro, A.; Hudson, B.; Schnur, R. E.; Hoganson, G. E.; Burton, J. E.; Mcentagart, M.; Lindenberg, T.; Yilmaz, O.; Odermatt, B.; Pehlivan, D.; Posey, J. E.; Lupski, J. R.; Reutter, H.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities 1-gen-2023 Cali, E.; Suri, M.; Scala, M.; Ferla, M. P.; Alavi, S.; Faqeih, E. A.; Bijlsma, E. K.; Wigby, K. M.; Baralle, D.; Mehrjardi, M. Y. V.; Schwab, J.; Platzer, K.; Steindl, K.; Hashem, M.; Jones, M.; Niyazov, D. M.; Jacober, J.; Littlejohn, R. O.; Weis, D.; Zadeh, N.; Rodan, L.; Goldenberg, A.; Lecoquierre, F.; Dutra-Clarke, M.; Horvath, G.; Young, D.; Orenstein, N.; Bawazeer, S.; Vulto-van Silfhout, A. T.; Herenger, Y.; Dehghani, M.; Seyedhassani, S. M.; Bahreini, A.; Nasab, M. E.; Ercan-Sencicek, A. G.; Firoozfar, Z.; Movahedinia, M.; Efthymiou, S.; Striano, P.; Karimiani, E. G.; Salpietro, Vincenzo; Taylor, J. C.; Redman, M.; Stegmann, A. P. A.; Laner, A.; Abdel-Salam, G.; Li, M.; Bengala, M.; Muller, A. J.; Digilio, M. C.; Rauch, A.; Gunel, M.; Titheradge, H.; Schweitzer, D. N.; Kraus, A.; Valenzuela, I.; Mclean, S. D.; Phornphutkul, C.; Salih, M.; Begtrup, A.; Schnur, R. E.; Torti, E.; Haack, T. B.; Prada, C. E.; Alkuraya, F. S.; Houlden, H.; Maroofian, R.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 1-gen-2021 Wiessner, M.; Maroofian, R.; M. -Y., Ni; Pedroni, A.; Muller, J. S.; Stucka, R.; Beetz, C.; Efthymiou, S.; Santorelli, F. M.; Alfares, A. A.; Zhu, C.; Uhrova Meszarosova, A.; Alehabib, E.; Bakhtiari, S.; Janecke, A. R.; Otero, M. G.; Chen, J. Y. H.; Peterson, J. T.; Strom, T. M.; De Jonghe, P.; Deconinck, T.; De Ridder, W.; De Winter, J.; Pasquariello, R.; Ricca, I.; Alfadhel, M.; Van De Warrenburg, B. P.; Portier, R.; Bergmann, C.; Ghasemi Firouzabadi, S.; Jin, S. C.; Bilguvar, K.; Hamed, S.; Abdelhameed, M.; Haridy, N. A.; Maqbool, S.; Rahman, F.; Anwar, N.; Carmichael, J.; Pagnamenta, A.; Wood, N. W.; Tran Mau-Them, F.; Haack, T.; Di Rocco, M.; Ceccherini, I.; Iacomino, M.; Zara, F.; Salpietro, Vincenzo; Scala, M.; Rusmini, M.; Xu, Y.; Wang, Y.; Suzuki, Y.; Koh, K.; Nan, H.; Ishiura, H.; Tsuji, S.; Lambert, L.; Schmitt, E.; Lacaze, E.; Kupper, H.; Dredge, D.; Skraban, C.; Goldstein, A.; Willis, M. J. H.; Grand, K.; Graham, J. M.; Lewis, R. A.; Millan, F.; Duman, O.; Dundar, N.; Uyanik, G.; Schols, L.; Nurnberg, P.; Nurnberg, G.; Catala Bordes, A.; Seeman, P.; Kuchar, M.; Darvish, H.; Rebelo, A.; Boucanova, F.; Medard, J. -J.; Chrast, R.; Auer-Grumbach, M.; Alkuraya, F. S.; Shamseldin, H.; Al Tala, S.; Rezazadeh Varaghchi, J.; Najafi, M.; Deschner, S.; Glaser, D.; Huttel, W.; Kruer, M. C.; Kamsteeg, E. -J.; Takiyama, Y.; Zuchner, S.; Baets, J.; Synofzik, M.; Schule, R.; Horvath, R.; Houlden, H.; Bartesaghi, L.; Lee, H. -J.; Ampatzis, K.; Pierson, T. M.; Senderek, J.
Biallelic variants in kif17 associated with microphthalmia and coloboma spectrum 1-gen-2021 Riva, A.; Gambadauro, A.; Dipasquale, V.; Casto, C.; Ceravolo, M. D.; Accogli, A.; Scala, M.; Ceravolo, G.; Iacomino, M.; Zara, F.; Striano, P.; Cuppari, C.; Di Rosa, G.; Cutrupi, M. C.; Salpietro, Vincenzo; Chimenz, R.
Biased M1 muscarinic receptor mutant mice show accelerated progression of prion neurodegenerative disease 1-gen-2021 Scarpa, M.; Molloy, C.; Jenkins, L.; Strellis, B.; Budgett, R. F.; Hesse, S.; Dwomoh, L.; Marsango, S.; Tejeda, G. S.; Rossi, M.; Ahmed, Z.; Milligan, G.; Hudson, B. D.; Tobin, A. B.; Bradley, S. J.
Biased M1-muscarinic-receptor-mutant mice inform the design of next-generation drugs 1-gen-2020 Bradley, S J; Molloy, C; Valuskova, P; Dwomoh, L; Scarpa, M; Rossi, M; Finlayson, L; Svensson, K A; Chernet, E; Barth, V N; Gherbi, K; Sykes, D A; Wilson, C A; Mistry, R; Sexton, P M; Christopoulos, A; Mogg, A J; Rosethorne, E M; Sakata, S; Challiss, R A J; Broad, L M; Tobin, A B
Bicalutamide before surgery reduces positive margins and modified the molecular arrangement of prostate cancer 1-gen-2006 Gravina, GIOVANNI LUCA; PARADISO GALATIOTO, Giuseppe; Muzi, P; Pomante, R; Angelucci, A; Ronchi, P; Costa, A. M.; Festuccia, C; Bologna, M; Vicentini, Carlo
Bicalutamide Demonstrates Biologic Effectiveness in Prostate Cancer Cell Lines and Tumor Primary Cultures Irrespective of Her2/neu Expression Levels 1-gen-2009 Gravina, GIOVANNI LUCA; Festuccia, C; Millimaggi, D; Tombolini, V; Dolo, Vincenza; Vicentini, Carlo; Bologna, Mauro
Bicalutamide dose-dependently inhibits proliferation in human prostatic carcinoma cell lines and primary cultures 1-gen-2002 Vicentini, Carlo; Festuccia, C; Angelucci, Adriano; Gravina, GIOVANNI LUCA; Muzi, P; Eleuterio, E; Miano, R; Marronaro, A; Tubaro, A; Bologna, Mauro
Bicalutamide increases phospho-Akt levels through Her2 in patients with prostate cancer 1-gen-2007 Festuccia, C; Gravina, GIOVANNI LUCA; Muzi, P; Pomante, R; Ventura, L; Vessella, Rl; Vicentini, Carlo; Bologna, Mauro
A bicentric propensity score matching study comparing percutaneous computed tomography-guided radiofrequency Ablation to Magnetic Resonance-guided Focused Ultrasounds for the treatment of osteoid osteoma 1-gen-2021 Arrigoni, Francesco; Spiliopoulos, Stavros; de Cataldo, Camilla; Reppas, Lazaros; Palumbo, Pierpaolo; Mazioti, Argyro; Bruno, Federico; Zugaro, Luigi; Papakonstantinou, Olympia; Barile, Antonio; Kelekis, Alexis; Masciocchi, Carlo; Filippiadis, Dimitrios
Bilateral 5 Hz transcranial alternating current stimulation on frontooral areas modulates resting-state EEG 1-gen-2017 D'Atri, Aurora; Romano, Claudia; Gorgoni, Maurizio; Scarpelli, Serena; Alfonsi, Valentina; Ferrara, Michele; Ferlazzo, Fabio; Rossini, Paolo Maria; De Gennaro, Luigi
Bilateral fabella in the mummy of the Blessed Jean Bassand (c. 1360–1445): A unique description in ancient human remains 1-gen-2021 Ventura, Luca; Bruno, Federico; Barile, Antonio; Masciocchi, Carlo
Bilateral MRgFUS thalamotomy for tremor: A safe solution? Case report and review of current insights 1-gen-2020 Bruno, F.; Catalucci, A.; Varrassi, M.; Arrigoni, F.; Gagliardi, A.; Sucapane, P.; Cerone, D.; Pistoia, F.; Ricci, A.; Marini, C.; Masciocchi, C.
Bilateral nephrectomy as an emergency or elective operation. 1-gen-1984 V., Boffo; B., Baroni; S., Verardi; Pisani, Francesco; C. U., Casciani
Bilateral perysilvian polymicrogyria in Chiari I malformation 1-gen-2006 Spalice, Alberto; Parisi, Pasquale; Mastrangelo, Mario; Luca, Francesca; Verrotti, Alberto; Iannetti, Paola
Bilateral suprascapular nerve entrapment by glenoid labral cysts associated with rotator cuff damage and posterior instability in an amateur weightlifter 1-gen-2010 Limbucci, N; Rossi, F; Salvati, F; Pistoia, Lm; Barile, Antonio; Masciocchi, Carlo
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