Literature DB >> 35005076

Infantile Ascending Hereditary Spastic Paralysis with Extrapyramidal and Extraocular Manifestations Associated with a Novel ALS2 Mutation.

Govind Madhaw1, Niraj Kumar1, Divya M Radhakrishnan1,2, Ritu Shree1,3.   

Abstract

Entities:  

Keywords:  ALS2 gene; dystonia; infantile‐onset ascending hereditary spastic paralysis; oculomotor apraxia; pyramidal

Year:  2021        PMID： 35005076      PMCID： PMC8721836          DOI： 10.1002/mdc3.13372

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


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  7 in total

Review 1.  Wilson's disease.

Authors:  Ronald F Pfeiffer
Journal:  Handb Clin Neurol       Date:  2011

2.  Infantile onset of hereditary ascending spastic paralysis with bulbar involvement.

Authors:  T Lerman-Sagie; J Filiano; D W Smith; M Korson
Journal:  J Child Neurol       Date:  1996-01       Impact factor: 1.987

3.  Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.

Authors:  Mayada Helal; Neda Mazaheri; Bita Shalbafan; Reza Azizi Malamiri; Nafi Dilaver; Rebecca Buchert; Javad Mohammadiasl; Neda Golchin; Alireza Sedaghat; Mohammad Yahya Vahidi Mehrjardi; Tobias B Haack; Olaf Riess; Wendy K Chung; Hamid Galehdari; Gholamreza Shariati; Reza Maroofian
Journal:  Neurol Sci       Date:  2018-08-21       Impact factor: 3.307

4.  Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.

Authors:  Eleonore Eymard-Pierre; Gaetan Lesca; Sandra Dollet; Filippo Maria Santorelli; Matteo di Capua; Enrico Bertini; Odile Boespflug-Tanguy
Journal:  Am J Hum Genet       Date:  2002-07-26       Impact factor: 11.025

5.  ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

Authors:  Una-Marie Sheerin; Susanne A Schneider; Lucinda Carr; Guenther Deuschl; Franziska Hopfner; Maria Stamelou; Nicholas W Wood; Kailash P Bhatia
Journal:  Neurology       Date:  2014-02-21       Impact factor: 9.910

6.  A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.

Authors:  Saima Siddiqi; Jia Nee Foo; Anthony Vu; Saad Azim; David L Silver; Atika Mansoor; Stacey Kiat Hong Tay; Sumiya Abbasi; Asraf Hussain Hashmi; Jamal Janjua; Sumbal Khalid; E Shyong Tai; Gene W Yeo; Chiea Chuen Khor
Journal:  PLoS One       Date:  2014-12-04       Impact factor: 3.240

Review 7.  Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.

Authors:  Loretta Racis; Alessandra Tessa; Maura Pugliatti; Eugenia Storti; Virgilio Agnetti; Filippo M Santorelli
Journal:  Eur J Paediatr Neurol       Date:  2013-10-09       Impact factor: 3.140
  7 in total

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