Research ArticlePediatricsC, F
Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients
A. Poretti, T.A.G.M. Huisman, I. Scheer and E. Boltshauser
American Journal of Neuroradiology September 2011, 32 (8) 1459-1463; DOI: https://doi.org/10.3174/ajnr.A2517
A. Poretti
T.A.G.M. Huisman
I. Scheer

Article Information
vol. 32 no. 8 1459-1463
PubMed
Published By
Print ISSN
Online ISSN
History
- Received October 8, 2010
- Accepted after revision December 17, 2010
- Published online September 9, 2011.
Copyright & Usage
© 2011 by American Journal of Neuroradiology
Author Information
- aFrom the Divisions of Pediatric Neurology (A.P., E.B.)
- bDiagnostic Imaging (I.S.), University Children's Hospital of Zurich, Zurich, Switzerland
- cDivision of Pediatric Radiology (A.P., T.A.G.M.H.), Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland
- Please address correspondence to Eugen Boltshauser, MD, Division of Pediatric Neurology, University Children's Hospital, Steinweiss 75, 8032 Zurich, Switzerland; e-mail: Eugen.Boltshauser{at}kispi.uzh.ch
Altmetrics
Cited By...
This article has been cited by the following articles in journals that are participating in Crossref Cited-by Linking.
- Marta Romani, Alessia Micalizzi, Enza Maria ValenteThe Lancet Neurology 2013 12 9
- R Bachmann-Gagescu, J C Dempsey, I G Phelps, B J O'Roak, D M Knutzen, T C Rue, G E Ishak, C R Isabella, N Gorden, J Adkins, E A Boyle, N de Lacy, D O'Day, A Alswaid, Radha Ramadevi A, L Lingappa, C Lourenço, L Martorell, À Garcia-Cazorla, H Ozyürek, G Haliloğlu, B Tuysuz, M Topçu, P Chance, M A Parisi, I A Glass, J Shendure, D DohertyJournal of Medical Genetics 2015 52 8
- Enza Maria Valente, Rasim O. Rosti, Elizabeth Gibbs, Joseph G. GleesonNature Reviews Neurology 2014 10 1
- Thangamadhan Bosemani, Gunes Orman, Eugen Boltshauser, Aylin Tekes, Thierry A. G. M. Huisman, Andrea PorettiRadioGraphics 2015 35 1
- Andrea Poretti, Eugen Boltshauser, Dan DohertyAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2014 166 2
- Dan Doherty, Kathleen J Millen, A James BarkovichThe Lancet Neurology 2013 12 4
- Karina Tuz, Ruxandra Bachmann-Gagescu, Diana R. O’Day, Kiet Hua, Christine R. Isabella, Ian G. Phelps, Allan E. Stolarski, Brian J. O’Roak, Jennifer C. Dempsey, Charles Lourenco, Abdulrahman Alswaid, Carsten G. Bönnemann, Livija Medne, Sheela Nampoothiri, Zornitza Stark, Richard J. Leventer, Meral Topçu, Ali Cansu, Sujatha Jagadeesh, Stephen Done, Gisele E. Ishak, Ian A. Glass, Jay Shendure, Stephan C.F. Neuhauss, Chad R. Haldeman-Englert, Dan Doherty, Russell J. FerlandThe American Journal of Human Genetics 2014 94 1
- Gordana Juric-Sekhar, Jonathan Adkins, Dan Doherty, Robert F. HevnerActa Neuropathologica 2012 123 5
- Abraham Andreu-Cervera, Martin Catala, Sylvie Schneider-MaunouryNeurobiology of Disease 2021 150
- Julie C. Van De Weghe, Tamara D.S. Rusterholz, Brooke Latour, Megan E. Grout, Kimberly A. Aldinger, Ranad Shaheen, Jennifer C. Dempsey, Sateesh Maddirevula, Yong-Han H. Cheng, Ian G. Phelps, Matthias Gesemann, Himanshu Goel, Ohad S. Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O. Khan, Michael J. Bamshad, Deborah A. Nickerson, Stephan C.F. Neuhauss, William B. Dobyns, Fowzan S. Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan DohertyThe American Journal of Human Genetics 2017 101 1
- Simone Gana, Valentina Serpieri, Enza Maria ValenteAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2022 190 1
- Andrea Poretti, Avner Meoded, Andrea Rossi, Charles Raybaud, Thierry A. G. M. HuismanPediatric Radiology 2013 43 1
- Andrea Poretti, Giuseppina Vitiello, Raoul CM Hennekam, Filippo Arrigoni, Enrico Bertini, Renato Borgatti, Francesco Brancati, Stefano D'Arrigo, Francesca Faravelli, Lucio Giordano, Thierry AGM Huisman, Miriam Iannicelli, Gerhard Kluger, Marten Kyllerman, Magnus Landgren, Melissa M Lees, Lorenzo Pinelli, Romina Romaniello, Ianina Scheer, Christoph E Schwarz, Ronen Spiegel, Daniel Tibussek, Enza Maria Valente, Eugen BoltshauserOrphanet Journal of Rare Diseases 2012 7 1
- Andrea Poretti, Joseph Snow, Angela C Summers, Aylin Tekes, Thierry A G M Huisman, Nafi Aygun, Kathryn A Carson, Dan Doherty, Melissa A Parisi, Camilo Toro, Deniz Yildirimli, Meghana Vemulapalli, Jim C Mullikin, Andrew R Cullinane, Thierry Vilboux, William A Gahl, Meral Gunay-AygunJournal of Medical Genetics 2017 54 8
- Susanne Roosing, Marta Romani, Mala Isrie, Rasim Ozgur Rosti, Alessia Micalizzi, Damir Musaev, Tommaso Mazza, Lihadh Al-gazali, Umut Altunoglu, Eugen Boltshauser, Stefano D'Arrigo, Bart De Keersmaecker, Hülya Kayserili, Sarah Brandenberger, Ichraf Kraoua, Paul R Mark, Trudy McKanna, Joachim Van Keirsbilck, Philippe Moerman, Andrea Poretti, Ratna Puri, Hilde Van Esch, Joseph G Gleeson, Enza Maria ValenteJournal of Medical Genetics 2016 53 9
- Mary Gazea, Evangelia Tasouri, Marianna Tolve, Viktoria Bosch, Anna Kabanova, Christian Gojak, Bahtiyar Kurtulmus, Orna Novikov, Joachim Spatz, Gislene Pereira, Wolfgang Hübner, Claude Brodski, Kerry L. Tucker, Sandra BlaessDevelopmental Biology 2016 409 1
- Kimberly A. Aldinger, Dan DohertySeminars in Fetal and Neonatal Medicine 2016 21 5
- Brian P. Brooks, Wadih M. Zein, Amy H. Thompson, Maryam Mokhtarzadeh, Daniel A. Doherty, Melissa Parisi, Ian A. Glass, May C. Malicdan, Thierry Vilboux, Meghana Vemulapalli, James C. Mullikin, William A. Gahl, Meral Gunay-AygunOphthalmology 2018 125 12
- Andrea Poretti, Martin Häusler, Arpad von Moers, Bastian Baumgartner, Klaus Zerres, Andrea Klein, Chiara Aiello, Francesca Moro, Ginevra Zanni, Filippo M. Santorelli, Thierry A. G. M. Huisman, Joachim Weis, Enza Maria Valente, Enrico Bertini, Eugen BoltshauserThe Cerebellum 2014 13 1
- Alessia Micalizzi, Andrea Poretti, Marta Romani, Monia Ginevrino, Tommaso Mazza, Chiara Aiello, Ginevra Zanni, Bastian Baumgartner, Renato Borgatti, Knut Brockmann, Ana Camacho, Gaetano Cantalupo, Martin Haeusler, Christiane Hikel, Andrea Klein, Giorgia Mandrile, Eugenio Mercuri, Dietz Rating, Romina Romaniello, Filippo Maria Santorelli, Mareike Schimmel, Luigina Spaccini, Serap Teber, Arpad von Moers, Sarah Wente, Andreas Ziegler, Andrea Zonta, Enrico Bertini, Eugen Boltshauser, Enza Maria ValenteEuropean Journal of Human Genetics 2016 24 9
- Ellen M. Chung, Richard M. Conran, Jason W. Schroeder, Ivan R. Rohena-Quinquilla, Veronica J. RooksRadioGraphics 2014 34 1
- Siling Liu, Mia X. Trupiano, Jeremy Simon, Jiami Guo, E.S. Anton2021 142
- Kerstin Hasenpusch-Theil, Thomas TheilFrontiers in Cell and Developmental Biology 2021 9
- Leonardo Baldarçara, Stuart Currie, M. Hadjivassiliou, Nigel Hoggard, Allison Jack, Andrea P. Jackowski, Mario Mascalchi, Cecilia Parazzini, Kathrin Reetz, Andrea Righini, Jörg B. Schulz, Alessandra Vella, Sara Jane Webb, Christophe HabasThe Cerebellum 2015 14 2
- Gisela G Slaats, Christine R Isabella, Hester Y Kroes, Jennifer C Dempsey, Hendrik Gremmels, Glen R Monroe, Ian G Phelps, Karen J Duran, Jonathan Adkins, Sairam A Kumar, Dana M Knutzen, Nine V Knoers, Nancy J Mendelsohn, David Neubauer, Sotiria D Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian A Glass, Melissa A Parisi, Edgar A Otto, Colin A Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H Giles, Dan DohertyJournal of Medical Genetics 2016 53 1
- Claudia Cotes, Eliana Bonfante, Jillian Lazor, Siddharth Jadhav, Maria Caldas, Leonard Swischuk, Roy RiascosThe Neuroradiology Journal 2015 28 3
- Ahmed Abdel Khalek Abdel Razek, Mauricio CastilloJournal of Computer Assisted Tomography 2016 40 1
- Ennio Del Giudice, Marina Macca, Floriana Imperati, Alessandra D’Amico, Philippe Parent, Laurent Pasquier, Valerie Layet, Stanislas Lyonnet, Veronique Stamboul-Darmency, Christel Thauvin-Robinet, Brunella FrancoOrphanet Journal of Rare Diseases 2014 9 1
- Andrea Accogli, Nassima Addour-Boudrahem, Myriam SrourThe Cerebellum 2021 20 4
- Andrea Poretti, Eugen Boltshauser, Enza Maria ValentePediatric Neurology 2014 50 6
- Andrea Poretti, Eugen Boltshauser, Thierry A.G.M. HuismanNeuroimaging Clinics of North America 2016 26 3
- Andrea Poretti, Eugen BoltshauserCerebellum & Ataxias 2015 2 1
- Andrea Poretti, Eugen Boltshauser, Thierry A. G. M. HuismanThe Cerebellum 2016 15 1
- Gunes Orman, Jane E. Benson, Charlotte F. Kweldam, Thangamadhan Bosemani, Aylin Tekes, M. Robert de Jong, Donna Seyfert, Frances J. Northington, Andrea Poretti, Thierry A. G. M. HuismanJournal of Neuroimaging 2015 25 1
- L. Vedolin, G. Gonzalez, C.F. Souza, C. Lourenço, A.J. BarkovichAmerican Journal of Neuroradiology 2013 34 5
- Kerstin Hasenpusch-Theil, Christine Laclef, Matt Colligan, Eamon Fitzgerald, Katherine Howe, Emily Carroll, Shaun R Abrams, Jeremy F Reiter, Sylvie Schneider-Maunoury, Thomas TheileLife 2020 9
- Jessica L. Klein, Monica E. Lemmon, Frances J. Northington, Eugen Boltshauser, Thierry A. G. M. Huisman, Andrea PorettiCerebellum & Ataxias 2016 3 1
- Mariasavina Severino, Domenico Tortora, Angela Pistorio, Luca Antonio Ramenghi, Flavia Napoli, Maria Margherita Mancardi, Pasquale Striano, Valeria Capra, Andrea RossiNeuroradiology 2016 58 1
- Valentina Serpieri, Fulvio D’Abrusco, Jennifer C Dempsey, Yong-Han Hank Cheng, Filippo Arrigoni, Janice Baker, Roberta Battini, Enrico Silvio Bertini, Renato Borgatti, Angela K Christman, Cynthia Curry, Stefano D'Arrigo, Joel Fluss, Michael Freilinger, Simone Gana, Gisele E Ishak, Vincenzo Leuzzi, Hailey Loucks, Filippo Manti, Nancy Mendelsohn, Laura Merlini, Caitlin V Miller, Ansar Muhammad, Sara Nuovo, Romina Romaniello, Wolfgang Schmidt, Sabrina Signorini, Sabrina Siliquini, Krzysztof Szczałuba, Gessica Vasco, Meredith Wilson, Ginevra Zanni, Eugen Boltshauser, Dan Doherty, Enza Maria ValenteJournal of Medical Genetics 2022 59 9
- Eugen Boltshauser, Ianina Scheer, Thierry A. G. M. Huisman, Andrea PorettiThe Cerebellum 2015 14 3
- Sarah Wente, Simone Schröder, Johannes Buckard, Hans-Martin Büttel, Florian von Deimling, Wilfried Diener, Martin Häussler, Susanne Hübschle, Silvia Kinder, Gerhard Kurlemann, Christoph Kretzschmar, Michael Lingen, Wiebke Maroske, Dirk Mundt, Iciar Sánchez-Albisua, Jürgen Seeger, Sandra P. Toelle, Eugen Boltshauser, Knut BrockmannOrphanet Journal of Rare Diseases 2016 11 1
- Mikako Enokizono, Noriko Aida, Tetsu Niwa, Hitoshi Osaka, Takuya Naruto, Kenji Kurosawa, Chihiro Ohba, Toshifumi Suzuki, Hirotomo Saitsu, Tomohide Goto, Naomichi MatsumotoJournal of the Neurological Sciences 2017 376
- F. Arrigoni, R. Romaniello, D. Peruzzo, A. De Luca, C. Parazzini, E.M. Valente, R. Borgatti, F. TriulziAmerican Journal of Neuroradiology 2017 38 12
- Jesús Muñoz-Estrada, Russell J. FerlandJournal of Cell Science 2019 132 17
- Ingrid Bader, E. Decker, J.A. Mayr, V. Lunzer, J. Koch, E. Boltshauser, W. Sperl, P. Pietsch, B. Ertl-Wagner, H. Bolz, C. Bergmann, O. RittingerEuropean Journal of Medical Genetics 2016 59 8
- Thierry A.G.M. Huisman, Thangamadhan Bosemani, Andrea PorettiNeuroimaging Clinics of North America 2014 24 4
- K. K. Haratz, S. L. Shulevitz, Z. Leibovitz, D. Lev, J. Shalev, M. Tomarkin, G. Malinger, T. Lerman‐Sagie, L. GindesUltrasound in Obstetrics & Gynecology 2019 53 3
- Andrea Poretti, Hans‐Jürgen Christen, Lindsay E Elton, Manuela Baumgartner, Georg Christoph Korenke, Biayna Sukhudyan, Sven Hethey, Elizabeth Cross, Maja Steinlin, Eugen BoltshauserDevelopmental Medicine & Child Neurology 2014 56 10
- Richa AroraPolish Journal of Radiology 2015 80
- M. Oka, K. Shimojima, T. Yamamoto, Y. Hanaoka, S. Sato, T. Yasuhara, H. Yoshinaga, K. KobayashiClinical Genetics 2016 89 6
- Usha D. Nagaraj, Beth M. Kline-FathDiagnostics 2022 12 3
- Charlie Chia-Tsong Hsu, Gigi Nga Chi Kwan, Sandeep BhutaPediatric Neurology 2015 53 1
- Avner Meoded, Gunes Orman, Thierry A.G.M. HuismanSeminars in Pediatric Neurology 2020 33
- Karthikeyan A. SadagopanCurrent Opinion in Ophthalmology 2017 28 5
- Rachel M. Bear, Tamara CasparyAnnals of Human Genetics 2024 88 1
- Amy F. Juliano, Bruno Policeni, Vikas Agarwal, Judah Burns, Julie Bykowski, H. Benjamin Harvey, Jenny K. Hoang, Christopher H. Hunt, Tabassum A. Kennedy, Gul Moonis, Jeffrey S. Pannell, Matthew S. Parsons, William J. Powers, Joshua M. Rosenow, Jason W. Schroeder, Konstantin Slavin, Matthew T. Whitehead, Amanda S. CoreyJournal of the American College of Radiology 2019 16 5
- Kristin Barañano, Irina BurdMaternal Health, Neonatology and Perinatology 2022 8 1
- Eleni Papanagnu, Lindsay D. Klaehn, Genie M. Bang, Rafif Ghadban, Brian G. Mohney, Michael C. BrodskyJournal of American Association for Pediatric Ophthalmology and Strabismus 2014 18 4
- Ling-Xi Huang, Xian-Gui Lu, Jiao-Xiang Liu, Ling Xu, Ning Shang, Li Guo, Yan-Chun OuYangFrontiers in Genetics 2022 13
- S. Fiori, A. Poretti, K. Pannek, R. Del Punta, R. Pasquariello, M. Tosetti, A. Guzzetta, S. Rose, G. Cioni, R. BattiniAmerican Journal of Neuroradiology 2016 37 5
- Shingo Koyama, Hidenori Sato, Manabu Wada, Toru Kawanami, Mitsuru Emi, Takeo KatoBMC Medical Genetics 2017 18 1
- Giulia Perucca, Nicolas Leboucq, Agathe Roubertie, François Rivier, Nicolas Menjot, Consuelo Valentini, Alain BonafeJournal of Neuroradiology 2016 43 3
- E Sukarova-Angelovska, N Angelkova, S Palcevska-Kocevska, M KocovaBalkan Journal of Medical Genetics 2012 15 1
- Marwan A. Abouammoh, Salwa K. Al-Shibani, Abdulrahman Alhawwas, Thomas M. BosleyJournal of American Association for Pediatric Ophthalmology and Strabismus 2016 20 4
- César Augusto Pinheiro Ferreira Alves, Suely Ferraciolli, Ciro Matsui, Leandro Tavares LucatoNeuroradiology 2017 59 12
- Bettina L. Serrallach, Gunes Orman, Eugen Boltshauser, Annette Hackenberg, Nilesh K. Desai, Stephen F. Kralik, Thierry A. G. M. HuismanJournal of Neuroimaging 2022 32 5
- Mahesh Verma, Anju S RajwarInternational Journal of Clinical Pediatric Dentistry 2016 9 4
- Chris J. Cadman, Lyndsay Fraser, Claire McArthurRadiology 2019 291 3
- Yan Dong, Ke Zhang, He Yao, Tianming Jia, Jun Wang, Dengna Zhu, Falin Xu, Meiying Cheng, Shichao Zhao, Xiaoyi ShiFrontiers in Pediatrics 2023 11
- Asha Sarma, Sumit PruthiSeminars in Roentgenology 2023 58 1
- Asha Sarma, Josh M. Heck, Josephine Ndolo, Allen Newton, Sumit PruthiPediatric Radiology 2021 51 2
- Andrea Poretti, Gwendolyn J. GernerPediatric Neurology Briefs 2016 30 12
- Giorgio Conte, Luca Caschera, Cecilia Parazzini, Claudia Cinnante, Giana Izzo, Giacomo Talenti, Mariasavina Severino, Francesca Ormitti, Giovanni Palumbo, Lorenzo Pinelli, Amanda Antonelli, Lucia Manganaro, Simona Boito, Andrea Rossi, Fabio Triulzi, Andrea RighiniEuropean Radiology 2020 30 4
- Francesca Mancini, Marta Romani, Alessia Micalizzi, Enza Maria Valente2014
- Richa AroraPolish Journal of Radiology 2014 79
- Rania S. M. Ibrahim, Rania H. HachemEgyptian Journal of Radiology and Nuclear Medicine 2020 51 1
- Manal Nicolas-Jilwan, Ahmed Nasser Al-Ahmari, Mohammed Abdulaziz Alowain, Khaled Saleh Altuhaini, Essam Abdulaziz AlshailChild's Nervous System 2019 35 7
- Jacek Mądry, Stanisław Szlufik, Dariusz Koziorowski, Leszek Królicki, Andrzej FriedmanNeurologia i Neurochirurgia Polska 2017 51 6
- Sachin BaldawaChild's Nervous System 2016 32 7
- Avner Meoded, Marcia Kukreja, Gunes Orman, Eugen Boltshauser, Thierry A.G.M. HuismanNeuropediatrics 2022 53 03
- Samantha Klassen, Brenden Dufault, Michael S. SalmanThe Cerebellum 2017 16 2
- Sandy Siegert, Gabriel T. Mindler, Christof Brücke, Andreas Kranzl, Janina Patsch, Markus Ritter, Andreas R. Janecke, Julia VodopiutzGenes 2021 12 11
- Michal Gafner, Leila Haddad, Rachna Gupta, Zvi Leibovitz, Itamar Zilberman Ron, Liat Ben‐Sira, Stephanie Libzon, Liat Gindes, Eugen Boltshauser, Tally Lerman‐SagieDevelopmental Medicine & Child Neurology 2024 66 7
- Likhita Shaik, Abhimanyu Ravalani, Shruti Nelekar, Vamsi Krishna Gorijala, Kaushal ShahCureus 2020
- Vivek Gurjar, Minal Gurjar, Channaveer Pattanshetti, Banashree SankeshwariThe Journal of Contemporary Dental Practice 2017 18 8
- M. Gafner, C. Garel, Z. Leibovitz, S. Valence, K. Krajden Haratz, R. Oegema, G.M.S. Mancini, D. Heron, E. Bueltmann, L. Burglen, D. Rodriguez, T.A.G.M. Huisman, M.H. Lequin, A. Arad, D. Kidron, M. Muqary, L. Gindes, D. Lev, E. Boltshauser, T. Lerman-SagieAmerican Journal of Neuroradiology 2023 44 3
- Laura M. Huisman, Thierry A. G. M. HuismanChildren 2023 10 10
- Reshma S. Shaik, Shreyashi Jha, Maya D. Bhat, Ravi YadavJournal of Neuro-Ophthalmology 2024 44 1
- Andrew L Bashford, Vasanta SubramanianHuman Molecular Genetics 2022 31 19
- Takefumi Higashijima, Hiroshi Shirozu, Hirotomo Saitsu, Masaki Sonoda, Atsushi Fujita, Hiroshi Masuda, Tetsuya Yamamoto, Naomichi Matsumoto, Shigeki KameyamaHeliyon 2023 9 4
- Lt Col Saikat Bhattacharjee, Lt Col Suprita Kalra, Lt Col Preema Sinha, Col Samar ChatterjeeIndian Journal of Child Health 2022 4 2
- C.W. Yap, C. Yong, B.K.H. SoonClinical Radiology 2023 78 12
- Nankee Kumar, Tomoki Nomakuchi, Arastoo Vossough, Jacqueline M.M. Leonard, Holly Dubbs, Sonika AgarwalPediatric Neurology 2023 145
- Ersilia Campo, Federica Dierna, Antonio Zanghì, Michele Vecchio, Stefania Salafia, Pietro Foti, Emanuele David, Giuseppe Belfiore, Salvatore Lavalle, Martino Ruggieri, Agata PolizziJournal of Pediatric Neurology 2024 22 05
- S.S. Gurbani, T. Assaye, T.X. D’souza, J.V. Dennison, S. Palasis, M. BajajNeurographics 2025 15 2
- Pankaj K Kannauje, Vinay Pandit, Preetam Wasnik, Saroj K Pati, Nanditha VenkatesanCureus 2022
- Luke L. Linscott, Charles Raybaud, Anne G. Osborn, Georg Bohner2023
- Stephen Kralik, Nilesh Desai, Avner Meoded, Thierry Huisman2024
- Ayelet Halevy, Osnat Konen, Aviva Mimouni-Bloch2016
- Ankitkumar PatelPolish Journal of Radiology 2015 80
- Lakshmikanth Halegubbi Karegowda, Poonam Mohan Shenoy, Smiti Sripathi, Mugil VarmanBMJ Case Reports 2014 2014
- Felipe Scortegagna, Diogo Goulart Corrêa, Felipe Torres Pacheco, Renato Hoffmann Nunes, Antônio José da RochaActa Neurologica Belgica 2024
- Grace M. Musiime, Doris M. W. Kinuthia, Donald P. Oyatsi, Wangui ManguyuBMC Research Notes 2017 10 1
- Dušica Ranđelović, Tatjana Mikić-Ranđelović, Darko LaketićActa medica medianae 2015
- Andrea Poretti, Eugen BoltshauserBrain and Development 2014 36 1
- Fabio Triulzi, Cristina Baldoli, Cecilia Parazzini, Özgur Öztekin, Andrea Righini2016
- Maria Giovanna Tedesco, Ilaria Donati, Chiara Romeo, Sara Dal Bo, Chiara Nardini, Anna Maria Innoceta, Giulia Parmeggiani, Anna Patanè, Claudio GrazianoGenes 2025 16 5
- Alexandra R. Noble, Markus Masek, Claudia Hofmann, Arianna Cuoco, Tamara D. S. Rusterholz, Hayriye Özkoc, Nadja R. Greter, Ian G. Phelps, Nikita Vladimirov, Sepp Kollmorgen, Esther Stoeckli, Ruxandra Bachmann-GagescuBiology Open 2024 13 11
- Rawad Obeid, Andrea L. GropmanCurrent Pediatrics Reports 2016 4 4
In this issue
Advertisement
A. Poretti, T.A.G.M. Huisman, I. Scheer, E. Boltshauser
Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients
American Journal of Neuroradiology Sep 2011, 32 (8) 1459-1463; DOI: 10.3174/ajnr.A2517
0 Responses
Jump to section
Related Articles
Cited By...
- Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system
- Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation
- SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
- A transient role of primary cilia in controlling direct versus indirect neurogenesis in the developing cerebral cortex
- Ahi1 promotes Arl13b ciliary recruitment, regulates Arl13b stability and is required for normal cell migration
- The Ciliopathy Gene Ftm/Rpgrip1l Controls Mouse Forebrain Patterning via Region-Specific Modulation of Hedgehog/Gli Signaling
- The Ciliopathy Gene Ftm/Rpgrip1l Controls Mouse Forebrain Patterning via Region-Specific Modulation of Hedgehog/Gli Signaling
- Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome
- Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause
- Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
- Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution
- MKS1 regulates ciliary INPP5E levels in Joubert syndrome
- Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
- Joubert syndrome
- Inherited Cerebellar Ataxia in Childhood: A Pattern-Recognition Approach Using Brain MRI
- Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
This article has been cited by the following articles in journals that are participating in Crossref Cited-by Linking.
- Marta Romani, Alessia Micalizzi, Enza Maria ValenteThe Lancet Neurology 2013 12 9
- R Bachmann-Gagescu, J C Dempsey, I G Phelps, B J O'Roak, D M Knutzen, T C Rue, G E Ishak, C R Isabella, N Gorden, J Adkins, E A Boyle, N de Lacy, D O'Day, A Alswaid, Radha Ramadevi A, L Lingappa, C Lourenço, L Martorell, À Garcia-Cazorla, H Ozyürek, G Haliloğlu, B Tuysuz, M Topçu, P Chance, M A Parisi, I A Glass, J Shendure, D DohertyJournal of Medical Genetics 2015 52 8
- Enza Maria Valente, Rasim O. Rosti, Elizabeth Gibbs, Joseph G. GleesonNature Reviews Neurology 2014 10 1
- Thangamadhan Bosemani, Gunes Orman, Eugen Boltshauser, Aylin Tekes, Thierry A. G. M. Huisman, Andrea PorettiRadioGraphics 2015 35 1
- Andrea Poretti, Eugen Boltshauser, Dan DohertyAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2014 166 2
- Dan Doherty, Kathleen J Millen, A James BarkovichThe Lancet Neurology 2013 12 4
- Karina Tuz, Ruxandra Bachmann-Gagescu, Diana R. O’Day, Kiet Hua, Christine R. Isabella, Ian G. Phelps, Allan E. Stolarski, Brian J. O’Roak, Jennifer C. Dempsey, Charles Lourenco, Abdulrahman Alswaid, Carsten G. Bönnemann, Livija Medne, Sheela Nampoothiri, Zornitza Stark, Richard J. Leventer, Meral Topçu, Ali Cansu, Sujatha Jagadeesh, Stephen Done, Gisele E. Ishak, Ian A. Glass, Jay Shendure, Stephan C.F. Neuhauss, Chad R. Haldeman-Englert, Dan Doherty, Russell J. FerlandThe American Journal of Human Genetics 2014 94 1
- Gordana Juric-Sekhar, Jonathan Adkins, Dan Doherty, Robert F. HevnerActa Neuropathologica 2012 123 5
- Abraham Andreu-Cervera, Martin Catala, Sylvie Schneider-MaunouryNeurobiology of Disease 2021 150
More in this TOC Section
Similar Articles
Advertisement