Literature DB >> 30713860

Neonatal SCA2 Presenting With Choreic Movements and Dystonia With Dystonic Jerks, Retinitis, Seizures, and Hypotonia.

Marcela Amaral Avelino1, José Luiz Pedroso2, Antonio Orlacchio3,4, Orlando Graziani Povoas Barsottini2, Marcelo Rodrigues Masruha1.   

Abstract

Entities:  

Keywords:  movement disorder; neonatal‐onset ataxia; spinocerebellar ataxia type 2

Year:  2014        PMID： 30713860      PMCID： PMC6353405          DOI： 10.1002/mdc3.12050

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


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  10 in total

Review 1.  The spinocerebellar ataxias: molecular progress and newly recognized paediatric phenotypes.

Authors:  P J Morrison
Journal:  Eur J Paediatr Neurol       Date:  2000       Impact factor: 3.140

2.  Unusual movement disorders in spinocerebellar ataxias.

Authors:  José Luiz Pedroso; Alzira Alves Carvalho; Marcio Luiz Escorcio Bezerra; Pedro Braga-Neto; Agessandro Abrahão; Marcus Vinicius Cristino Albuquerque; Maria Luiza Saraiva-Pereira; Laura Bannach Jardim; Francisco Cardoso; Orlando G P Barsottini
Journal:  Parkinsonism Relat Disord       Date:  2013-05-30       Impact factor: 4.891

3.  Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms.

Authors:  A R Paciorkowski; Y Shafrir; J Hrivnak; M C Patterson; M B Tennison; H B Clark; C M Gomez
Journal:  Neurology       Date:  2011-08-31       Impact factor: 9.910

4.  SCA2 presenting as an ataxia-parkinsonism-motor neuron disease syndrome.

Authors:  Pedro Braga-Neto; José Luiz Pedroso; André Carvalho Felício; Agessandro Abrahão; Lívia Almeida Dutra; Marcio Luiz Escorcio Bezerra; Orlando Graziani Povoas Barsottini
Journal:  Arq Neuropsiquiatr       Date:  2011       Impact factor: 1.420

Review 5.  Movement disorders in spinocerebellar ataxias.

Authors:  Judith van Gaalen; Paola Giunti; Bart P van de Warrenburg
Journal:  Mov Disord       Date:  2011-03-02       Impact factor: 10.338

6.  Infantile childhood onset of spinocerebellar ataxia type 2.

Authors:  Roberto Di Fabio; Filippo Santorelli; Enrico Bertini; Martina Balestri; Laura Cursi; Alessandra Tessa; Francesco Pierelli; Carlo Casali
Journal:  Cerebellum       Date:  2012-06       Impact factor: 3.847

7.  Central phenotype and related varieties of spinocerebellar ataxia 2 (SCA2): a clinical and genetic study with a pedigree in the Japanese.

Authors:  H Sasaki; T Fukazawa; A Wakisaka; K Hamada; T Hamada; T Koyama; S Tsuji; K Tashiro
Journal:  J Neurol Sci       Date:  1996-12       Impact factor: 3.181

8.  Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy.

Authors:  Shinsuke Maruyama; Yoshiaki Saito; Eiji Nakagawa; Takashi Saito; Hirofumi Komaki; Kenji Sugai; Masayuki Sasaki; Satoko Kumada; Yuko Saito; Hajime Tanaka; Narihiro Minami; Yu-Ichi Goto
Journal:  J Neurol       Date:  2012-04-18       Impact factor: 4.849

9.  Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

Authors:  Rong Mao; Arthur S Aylsworth; Nicholas Potter; William G Wilson; Galen Breningstall; Myra J Wick; Dusica Babovic-Vuksanovic; Martha Nance; Marc C Patterson; Christopher M Gomez; Karen Snow
Journal:  Am J Med Genet       Date:  2002-07-15

Review 10.  Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases.

Authors:  Ankur Singh; Mohammed Faruq; Mitali Mukerji; Manish Kumar Dwivedi; Sumit Pruthi; Seema Kapoor
Journal:  J Child Neurol       Date:  2013-12-02       Impact factor: 1.987
  10 in total
  1 in total

1.  Spinocerebellar ataxia type 2 presenting with involuntary movement: a diagnostic dilemma.

Authors:  Shu-Ting Li; Yang Zhou
Journal:  J Int Med Res       Date:  2019-11-27       Impact factor: 1.671
  1 in total

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