Literature DB >> 32373664

Disabling Myoclonus in a Case of Joubert Syndrome.

Vikram Venkappayya Holla1, Albert Stezin1,2, Sudhakar Pushpa Chaithra1, Nitish Kamble1, Ravi Yadav1, Pramod Kumar Pal1.   

Abstract

Entities:  

Keywords:  CPLANE1; Joubert syndrome; molar tooth sign; myoclonus

Year:  2020        PMID： 32373664      PMCID： PMC7197299          DOI： 10.1002/mdc3.12933

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  8 in total

Review 1.  Joubert Syndrome and related disorders.

Authors:  Francesco Brancati; Bruno Dallapiccola; Enza Maria Valente
Journal:  Orphanet J Rare Dis       Date:  2010-07-08       Impact factor: 4.123

2.  Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause.

Authors:  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-Aygun
Journal:  J Med Genet       Date:  2017-01-13       Impact factor: 6.318

Review 3.  Joubert syndrome: insights into brain development, cilium biology, and complex disease.

Authors:  Dan Doherty
Journal:  Semin Pediatr Neurol       Date:  2009-09       Impact factor: 1.636

Review 4.  Joubert syndrome: congenital cerebellar ataxia with the molar tooth.

Authors:  Marta Romani; Alessia Micalizzi; Enza Maria Valente
Journal:  Lancet Neurol       Date:  2013-07-17       Impact factor: 44.182

Review 5.  Myoclonus: a pragmatic approach.

Authors:  Dora Lozsadi
Journal:  Pract Neurol       Date:  2012-08

6.  Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Authors:  Marta Romani; Francesca Mancini; Alessia Micalizzi; Andrea Poretti; Elide Miccinilli; Patrizia Accorsi; Emanuela Avola; Enrico Bertini; Renato Borgatti; Romina Romaniello; Serdar Ceylaner; Giangennaro Coppola; Stefano D'Arrigo; Lucio Giordano; Andreas R Janecke; Mario Lituania; Kathrin Ludwig; Loreto Martorell; Tommaso Mazza; Sylvie Odent; Lorenzo Pinelli; Pilar Poo; Margherita Santucci; Sabrina Signorini; Alessandro Simonati; Ronen Spiegel; Franco Stanzial; Maja Steinlin; Brahim Tabarki; Nicole I Wolf; Federica Zibordi; Eugen Boltshauser; Enza Maria Valente
Journal:  Hum Genet       Date:  2014-11-19       Impact factor: 4.132

7.  Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies.

Authors:  Ingrid M Wentzensen; Jennifer J Johnston; Kim Keppler-Noreuil; Karina Acrich; Karen David; Kisha D Johnson; John M Graham; Julie C Sapp; Leslie G Biesecker
Journal:  Hum Genome Var       Date:  2015-11-19

Review 8.  Mutation spectrum of Joubert syndrome and related disorders among Arabs.

Authors:  Salma Ben-Salem; Aisha M Al-Shamsi; Joseph G Gleeson; Bassam R Ali; Lihadh Al-Gazali
Journal:  Hum Genome Var       Date:  2014-11-06
  8 in total

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