Literature DB >> 21468723

TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.

Alessandro Simonati, Denise Cassandrini, Diana Bazan, Filippo Maria Santorelli.   

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Year:  2011        PMID： 21468723     DOI： 10.1007/s00401-011-0823-1

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN： 0001-6322            Impact factor:   17.088


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  10 in total

1.  Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.

Authors:  Lydie Burglen; Sandra Chantot-Bastaraud; Catherine Garel; Mathieu Milh; Renaud Touraine; Ginevra Zanni; Florence Petit; Alexandra Afenjar; Cyril Goizet; Sabina Barresi; Aurélie Coussement; Christine Ioos; Leila Lazaro; Sylvie Joriot; Isabelle Desguerre; Didier Lacombe; Vincent des Portes; Enrico Bertini; Jean-Pierre Siffroi; Thierry Billette de Villemeur; Diana Rodriguez
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Review 2.  The Genetics of Spinal Muscular Atrophy: Progress and Challenges.

Authors:  Michelle A Farrar; Matthew C Kiernan
Journal:  Neurotherapeutics       Date:  2015-04       Impact factor: 7.620

3.  Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.

Authors:  Sabine Rudnik-Schöneborn; Jan Senderek; Joanna C Jen; Gunnar Houge; Pavel Seeman; Alena Puchmajerová; Luitgard Graul-Neumann; Ulrich Seidel; Rudolf Korinthenberg; Janbernd Kirschner; Jürgen Seeger; Monique M Ryan; Francesco Muntoni; Maja Steinlin; Laszlo Sztriha; Jaume Colomer; Christoph Hübner; Knut Brockmann; Lionel Van Maldergem; Manuel Schiff; Andreas Holzinger; Peter Barth; William Reardon; Michael Yourshaw; Stanley F Nelson; Thomas Eggermann; Klaus Zerres
Journal:  Neurology       Date:  2013-01-02       Impact factor: 9.910

Review 4.  Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.

Authors:  Yasmin Namavar; Peter G Barth; Bwee Tien Poll-The; Frank Baas
Journal:  Orphanet J Rare Dis       Date:  2011-07-12       Impact factor: 4.123

5.  Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.

Authors:  Jijun Wan; Michael Yourshaw; Hafsa Mamsa; Sabine Rudnik-Schöneborn; Manoj P Menezes; Ji Eun Hong; Derek W Leong; Jan Senderek; Michael S Salman; David Chitayat; Pavel Seeman; Arpad von Moers; Luitgard Graul-Neumann; Andrew J Kornberg; Manuel Castro-Gago; María-Jesús Sobrido; Masafumi Sanefuji; Perry B Shieh; Noriko Salamon; Ronald C Kim; Harry V Vinters; Zugen Chen; Klaus Zerres; Monique M Ryan; Stanley F Nelson; Joanna C Jen
Journal:  Nat Genet       Date:  2012-04-29       Impact factor: 38.330

Review 6.  Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.

Authors:  Hooi Ling Teoh; Kate Carey; Hugo Sampaio; David Mowat; Tony Roscioli; Michelle Farrar
Journal:  Neural Plast       Date:  2017-05-28       Impact factor: 3.599

7.  EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.

Authors:  Roberta Biancheri; Denise Cassandrini; Francesca Pinto; Rosanna Trovato; Maja Di Rocco; Marisol Mirabelli-Badenier; Marina Pedemonte; Chiara Panicucci; Holger Trucks; Thomas Sander; Federico Zara; Andrea Rossi; Pasquale Striano; Carlo Minetti; Filippo Maria Santorelli
Journal:  J Neurol       Date:  2013-04-07       Impact factor: 4.849

8.  EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.

Authors:  Veerle Rc Eggens; Peter G Barth; Jikke-Mien F Niermeijer; Jonathan N Berg; Niklas Darin; Abhijit Dixit; Joel Fluss; Nicola Foulds; Darren Fowler; Tibor Hortobágyi; Thomas Jacques; Mary D King; Periklis Makrythanasis; Adrienn Máté; James A R Nicoll; Declan O'Rourke; Sue Price; Andrew N Williams; Louise Wilson; Mohnish Suri; Laszlo Sztriha; Marit B Dijns-de Wissel; Mia T van Meegen; Fred van Ruissen; Eleonora Aronica; Dirk Troost; Charles Blm Majoie; Henk A Marquering; Bwee Tien Poll-Thé; Frank Baas
Journal:  Orphanet J Rare Dis       Date:  2014-02-13       Impact factor: 4.123

9.  Pontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl.

Authors:  Puneet Jain; Suvasini Sharma; Atin Kumar; Satinder Aneja
Journal:  J Pediatr Neurosci       Date:  2014-01

10.  Systematic analysis of the relationship between ovarian cancer prognosis and alternative splicing.

Authors:  Di Zhang; Dan Zou; Yue Deng; Lihua Yang
Journal:  J Ovarian Res       Date:  2021-09-15       Impact factor: 4.234
  10 in total

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