Literature DB >> 34307757

Cerebellar Ataxia in Adults with SQSTM1-Associated Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Spectrum of Disorders.

Biswamohan Mishra1, Roopa Rajan1, Anu Gupta1, Mohammed Faruq2, Uzma Shamim2, Shaista Parveen2, Ajay Garg1, Madhavi Tripathi1, Venugopalan Y Vishnu1, Mamta Bhushan Singh1, Rohit Bhatia1, Padma Srivastava1.   

Abstract

Entities:  

Keywords:  SQSTM1; Sequestosome; amyotrophic lateral sclerosis; frontotemporal dementia; p62

Year:  2021        PMID： 34307757      PMCID： PMC8287176          DOI： 10.1002/mdc3.13218

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


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  7 in total

1.  Neuronal and glial inclusions in frontotemporal dementia with or without motor neuron disease are immunopositive for p62.

Authors:  Tetsuaki Arai; Takashi Nonaka; Masato Hasegawa; Haruhiko Akiyama; Mari Yoshida; Yosio Hashizume; Kuniaki Tsuchiya; Tatsuro Oda; Kenji Ikeda
Journal:  Neurosci Lett       Date:  2003-05-15       Impact factor: 3.046

2.  Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.

Authors:  Valentina Muto; Elisabetta Flex; Zachary Kupchinsky; Guido Primiano; Hamid Galehdari; Mohammadreza Dehghani; Serena Cecchetti; Giovanna Carpentieri; Teresa Rizza; Neda Mazaheri; Alireza Sedaghat; Mohammad Yahya Vahidi Mehrjardi; Alice Traversa; Michela Di Nottia; Maria M Kousi; Yalda Jamshidi; Andrea Ciolfi; Viviana Caputo; Reza Azizi Malamiri; Francesca Pantaleoni; Simone Martinelli; Aaron R Jeffries; Jawaher Zeighami; Amir Sherafat; Daniela Di Giuda; Gholam Reza Shariati; Rosalba Carrozzo; Nicholas Katsanis; Reza Maroofian; Serenella Servidei; Marco Tartaglia
Journal:  Neurology       Date:  2018-06-29       Impact factor: 9.910

3.  SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

Authors:  Elisa Rubino; Innocenzo Rainero; Adriano Chiò; Ekaterina Rogaeva; Daniela Galimberti; Pierpaola Fenoglio; Yakov Grinberg; Giancarlo Isaia; Andrea Calvo; Salvatore Gentile; Amalia Cecilia Bruni; Peter Henry St George-Hyslop; Elio Scarpini; Salvatore Gallone; Lorenzo Pinessi
Journal:  Neurology       Date:  2012-09-12       Impact factor: 9.910

4.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

5.  SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

Authors:  Isabelle Le Ber; Agnès Camuzat; Rita Guerreiro; Kawtar Bouya-Ahmed; Jose Bras; Gael Nicolas; Audrey Gabelle; Mira Didic; Anne De Septenville; Stéphanie Millecamps; Timothée Lenglet; Morwena Latouche; Edor Kabashi; Dominique Campion; Didier Hannequin; John Hardy; Alexis Brice
Journal:  JAMA Neurol       Date:  2013-11       Impact factor: 18.302

6.  Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

Authors:  Tobias B Haack; Erika Ignatius; Javier Calvo-Garrido; Arcangela Iuso; Pirjo Isohanni; Camilla Maffezzini; Tuula Lönnqvist; Anu Suomalainen; Matteo Gorza; Laura S Kremer; Elisabeth Graf; Monika Hartig; Riccardo Berutti; Martin Paucar; Per Svenningsson; Henrik Stranneheim; Göran Brandberg; Anna Wedell; Manju A Kurian; Susan A Hayflick; Paola Venco; Valeria Tiranti; Tim M Strom; Martin Dichgans; Rita Horvath; Elke Holinski-Feder; Christoph Freyer; Thomas Meitinger; Holger Prokisch; Jan Senderek; Anna Wredenberg; Christopher J Carroll; Thomas Klopstock
Journal:  Am J Hum Genet       Date:  2016-08-18       Impact factor: 11.025

Review 7.  The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

Authors:  Yevgeniya A Abramzon; Pietro Fratta; Bryan J Traynor; Ruth Chia
Journal:  Front Neurosci       Date:  2020-02-05       Impact factor: 4.677
  7 in total

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