Literature DB >> 21715708

Non-5q spinal muscular atrophies: the alphanumeric soup thickens.

Basil T Darras.   

Abstract

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Year:  2011        PMID： 21715708     DOI： 10.1212/WNL.0b013e3182267bd8

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  10 in total

1.  Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.

Authors:  Sini Penttilä; Manu Jokela; Peter Hackman; Anna Maija Saukkonen; Jari Toivanen; Bjarne Udd
Journal:  Eur J Hum Genet       Date:  2012-04-25       Impact factor: 4.246

2.  Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.

Authors:  Kristien Peeters; Ivan Litvinenko; Bob Asselbergh; Leonardo Almeida-Souza; Teodora Chamova; Thomas Geuens; Elke Ydens; Magdalena Zimoń; Joy Irobi; Els De Vriendt; Vicky De Winter; Tinne Ooms; Vincent Timmerman; Ivailo Tournev; Albena Jordanova
Journal:  Am J Hum Genet       Date:  2013-05-09       Impact factor: 11.025

3.  Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy.

Authors:  Wendy K M Liew; Peter B Kang
Journal:  Ther Adv Neurol Disord       Date:  2013-05       Impact factor: 6.570

Review 4.  Spinal muscular atrophy--recent therapeutic advances for an old challenge.

Authors:  Irene Faravelli; Monica Nizzardo; Giacomo P Comi; Stefania Corti
Journal:  Nat Rev Neurol       Date:  2015-05-19       Impact factor: 42.937

5.  A novel Xp11.22-22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy.

Authors:  Jingwei Liu; Kelai Wang; Baomin Li; Xiaofan Yang
Journal:  Mol Genet Genomic Med       Date:  2021-01-29       Impact factor: 2.183

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

Review 7.  Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase.

Authors:  Ekaterina S Vinogradova; Oleg S Nikonov; Ekaterina Yu Nikonova
Journal:  Biochemistry (Mosc)       Date:  2021-01       Impact factor: 2.487

8.  Early Infantile Onset Non-5q Spinal Muscular Atrophies: A Diagnostic Odyssey.

Authors:  Renu Suthar; Chandana Bhagwat; Pradip Paria; Divya Aggarwal; Namita Ravi Kumar; Debajyoti Chatterjee; Arushi G Saini; Suresh Kumar Angurana; Naveen Sankhyan
Journal:  Ann Indian Acad Neurol       Date:  2021-02-10       Impact factor: 1.383

9.  GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.

Authors:  Rebecca Markovitz; Rajarshi Ghosh; Molly E Kuo; William Hong; Jaehyung Lim; Saunder Bernes; Stephanie Manberg; Kathleen Crosby; Pranoot Tanpaiboon; Diana Bharucha-Goebel; Carsten Bonnemann; Carrie A Mohila; Elizabeth Mizerik; Suzanne Woodbury; Weimin Bi; Timothy Lotze; Anthony Antonellis; Rui Xiao; Lorraine Potocki
Journal:  Am J Med Genet A       Date:  2020-03-17       Impact factor: 2.578

Review 10.  Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.

Authors:  Kristien Peeters; Teodora Chamova; Albena Jordanova
Journal:  Brain       Date:  2014-06-25       Impact factor: 13.501
  10 in total

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