Literature DB >> 23703955

Myoclonus-dystonia syndrome associated with Russell Silver syndrome.

Erika F Augustine, Joanna Blackburn, Joan E Pellegrino, Ryan Miller, Jonathan W Mink.   

Abstract

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Year:  2013        PMID： 23703955      PMCID： PMC4643854          DOI： 10.1002/mds.25483

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  5 in total

Review 1.  The genetic aetiology of Silver-Russell syndrome.

Authors:  S Abu-Amero; D Monk; J Frost; M Preece; P Stanier; G E Moore
Journal:  J Med Genet       Date:  2007-12-21       Impact factor: 6.318

2.  Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.

Authors:  Zornitza Stark; Monique M Ryan; Damien L Bruno; Trent Burgess; Ravi Savarirayan
Journal:  Am J Med Genet A       Date:  2010-09       Impact factor: 2.802

3.  Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.

Authors:  A Zimprich; M Grabowski; F Asmus; M Naumann; D Berg; M Bertram; K Scheidtmann; P Kern; J Winkelmann; B Müller-Myhsok; L Riedel; M Bauer; T Müller; M Castro; T Meitinger; T M Strom; T Gasser
Journal:  Nat Genet       Date:  2001-09       Impact factor: 38.330

4.  Myoclonus-dystonia due to maternal uniparental disomy.

Authors:  Emilie Guettard; Marie-France Portnoi; Katja Lohmann-Hedrich; Boris Keren; Sylvie Rossignol; Susen Winkler; Imen El Kamel; Smaranda Leu; Emmanuelle Apartis; Marie Vidailhet; Christine Klein; Emmanuel Roze
Journal:  Arch Neurol       Date:  2008-10

5.  The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.

Authors:  Monika Grabowski; Alexander Zimprich; Bettina Lorenz-Depiereux; Vera Kalscheuer; Friedrich Asmus; Thomas Gasser; Thomas Meitinger; Tim M Strom
Journal:  Eur J Hum Genet       Date:  2003-02       Impact factor: 4.246
  5 in total
  4 in total

1.  Diagnosis and management of Silver-Russell syndrome: first international consensus statement.

Authors:  Emma L Wakeling; Frédéric Brioude; Oluwakemi Lokulo-Sodipe; Susan M O'Connell; Jennifer Salem; Jet Bliek; Ana P M Canton; Krystyna H Chrzanowska; Justin H Davies; Renuka P Dias; Béatrice Dubern; Miriam Elbracht; Eloise Giabicani; Adda Grimberg; Karen Grønskov; Anita C S Hokken-Koelega; Alexander A Jorge; Masayo Kagami; Agnes Linglart; Mohamad Maghnie; Klaus Mohnike; David Monk; Gudrun E Moore; Philip G Murray; Tsutomu Ogata; Isabelle Oliver Petit; Silvia Russo; Edith Said; Meropi Toumba; Zeynep Tümer; Gerhard Binder; Thomas Eggermann; Madeleine D Harbison; I Karen Temple; Deborah J G Mackay; Irène Netchine
Journal:  Nat Rev Endocrinol       Date:  2016-09-02       Impact factor: 43.330

Review 2.  ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene.

Authors:  Ana Cazurro-Gutiérrez; Anna Marcé-Grau; Marta Correa-Vela; Ainara Salazar; María I Vanegas; Alfons Macaya; Àlex Bayés; Belén Pérez-Dueñas
Journal:  Mol Neurobiol       Date:  2021-04-22       Impact factor: 5.590

3.  Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea.

Authors:  Juanjuan Lyu; Zhuo Huang; Hongbo Chen; Xiaomei Sun; Ying Liu; Chuanjie Yuan; Li Ye; Dan Yu; Jin Wu
Journal:  J Clin Lab Anal       Date:  2021-06-04       Impact factor: 2.352

4.  Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7.

Authors:  Marvin Ziegler; Bianca E Russell; Kathrin Eberhardt; Gregory Geisel; Angelica D'Amore; Mustafa Sahin; Harley I Kornblum; Darius Ebrahimi-Fakhari
Journal:  Neurol Genet       Date:  2020-12-29
  4 in total

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