Literature DB >> 12920088

Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia.

B Ben-Zeev, C Hoffman, D Lev, N Watemberg, G Malinger, N Brand, T Lerman-Sagie.   

Abstract

Entities:  

Mesh：

Year:  2003        PMID： 12920088      PMCID： PMC1735539          DOI： 10.1136/jmg.40.8.e96

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  18 in total

1.  Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.

Authors:  Orly Agamy; Bruria Ben Zeev; Dorit Lev; Barak Marcus; Dina Fine; Dan Su; Ginat Narkis; Rivka Ofir; Chen Hoffmann; Esther Leshinsky-Silver; Hagit Flusser; Sara Sivan; Dieter Söll; Tally Lerman-Sagie; Ohad S Birk
Journal:  Am J Hum Genet       Date:  2010-10-08       Impact factor: 11.025

2.  Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

Authors:  Yavuz Bayram; Ender Karaca; Zeynep Coban Akdemir; Elif Ozdamar Yilmaz; Gulsen Akay Tayfun; Hatip Aydin; Deniz Torun; Sevcan Tug Bozdogan; Alper Gezdirici; Sedat Isikay; Mehmed M Atik; Tomasz Gambin; Tamar Harel; Ayman W El-Hattab; Wu-Lin Charng; Davut Pehlivan; Shalini N Jhangiani; Donna M Muzny; Ali Karaman; Tamer Celik; Ozge Ozalp Yuregir; Timur Yildirim; Ilhan A Bayhan; Eric Boerwinkle; Richard A Gibbs; Nursel Elcioglu; Beyhan Tuysuz; James R Lupski
Journal:  J Clin Invest       Date:  2016-01-11       Impact factor: 14.808

3.  Impaired selenoprotein expression in brain triggers striatal neuronal loss leading to co-ordination defects in mice.

Authors:  Sandra Seeher; Bradley A Carlson; Angela C Miniard; Eva K Wirth; Yassin Mahdi; Dolph L Hatfield; Donna M Driscoll; Ulrich Schweizer
Journal:  Biochem J       Date:  2014-08-15       Impact factor: 3.857

4.  Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

Authors:  Heather E Olson; McKenna Kelly; Christopher M LaCoursiere; Rebecca Pinsky; Dimira Tambunan; Catherine Shain; Sriram Ramgopal; Masanori Takeoka; Mark H Libenson; Kristina Julich; Tobias Loddenkemper; Eric D Marsh; Devorah Segal; Susan Koh; Michael S Salman; Alex R Paciorkowski; Edward Yang; Ann M Bergin; Beth Rosen Sheidley; Annapurna Poduri
Journal:  Ann Neurol       Date:  2017-02-14       Impact factor: 10.422

5.  VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis.

Authors:  Moran Hausman-Kedem; Shay Ben-Shachar; Shay Menascu; Karen Geva; Liora Sagie; Aviva Fattal-Valevski
Journal:  Neurogenetics       Date:  2019-08-16       Impact factor: 2.660

6.  Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

Authors:  Anna-Kaisa Anttonen; Taru Hilander; Tarja Linnankivi; Pirjo Isohanni; Rachel L French; Yuchen Liu; Miljan Simonović; Dieter Söll; Mirja Somer; Dorota Muth-Pawlak; Garry L Corthals; Anni Laari; Emil Ylikallio; Marja Lähde; Leena Valanne; Tuula Lönnqvist; Helena Pihko; Anders Paetau; Anna-Elina Lehesjoki; Anu Suomalainen; Henna Tyynismaa
Journal:  Neurology       Date:  2015-06-26       Impact factor: 9.910

7.  A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

Authors:  Zejuan Li; Rhonda Schonberg; Lucia Guidugli; Amy Knight Johnson; Stephen Arnovitz; Sandra Yang; Joseph Scafidi; Marshall L Summar; Gilbert Vezina; Soma Das; Kimberly Chapman; Daniela del Gaudio
Journal:  J Hum Genet       Date:  2015-03-26       Impact factor: 3.172

8.  CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63.

Authors:  Ashley P L Marsh; Gaia Novarino; Paul J Lockhart; Richard J Leventer
Journal:  Eur J Hum Genet       Date:  2018-08-08       Impact factor: 4.246

Review 9.  Selenoproteins in nervous system development and function.

Authors:  Matthew W Pitts; China N Byrns; Ashley N Ogawa-Wong; Penny Kremer; Marla J Berry
Journal:  Biol Trace Elem Res       Date:  2014-07-01       Impact factor: 3.738

10.  Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

Authors:  Denise Cassandrini; Maria Roberta Cilio; Marzia Bianchi; Mara Doimo; Martina Balestri; Alessandra Tessa; Teresa Rizza; Geppo Sartori; Maria Chiara Meschini; Claudia Nesti; Giulia Tozzi; Vittoria Petruzzella; Fiorella Piemonte; Luigi Bisceglia; Claudio Bruno; Carlo Dionisi-Vici; Adele D'Amico; Fabiana Fattori; Rosalba Carrozzo; Leonardo Salviati; Filippo M Santorelli; Enrico Bertini
Journal:  J Inherit Metab Dis       Date:  2012-05-08       Impact factor: 4.982
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