Literature DB >> 35001331

The First Korean Family of Spinocerebellar Ataxia 21 (ATX-TMEM240) with Facial Dystonic Phenotype.

Don Gueu Park1,2, Min Seung Kim1, Jung Han Yoon3.   

Abstract

Entities:  

Year:  2022        PMID： 35001331     DOI： 10.1007/s12311-022-01368-6

Source DB:  PubMed          Journal:  Cerebellum        ISSN： 1473-4222            Impact factor:   3.847


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  14 in total

1.  A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.

Authors:  Isabelle Vuillaume; David Devos; Susanna Schraen-Maschke; Christian Dina; Arnaud Lemainque; Francis Vasseur; Guy Bocquillon; Patrick Devos; Carole Kocinski; Christiane Marzys; Alain Destée; Bernard Sablonnière
Journal:  Ann Neurol       Date:  2002-11       Impact factor: 10.422

2.  The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240).

Authors:  Emma D Burdekin; Brent L Fogel; Shafali S Jeste; Julian Martinez; Jessica E Rexach; Charlotte DiStefano; Carly Hyde; Tabitha Safari; Rujuta B Wilson
Journal:  J Child Neurol       Date:  2020-07-24       Impact factor: 1.987

3.  Spinocerebellar ataxia type 21 (TMEM240) with tremor and dystonia.

Authors:  Carlos Henrique Ferreira Camargo; Aline K C Piva Silva; Renato P Munhoz; Salmo Raskin; Hélio Afonso Ghizoni Teive
Journal:  Eur J Neurol       Date:  2021-05-30       Impact factor: 6.089

4.  A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies.

Authors:  Hiroyuki Yahikozawa; Satoko Miyatake; Toshiaki Sakai; Takeshi Uehara; Mitsunori Yamada; Norinao Hanyu; Yasuhiro Futatsugi; Hiroshi Doi; Shigeru Koyano; Fumiaki Tanaka; Atsushi Suzuki; Naomichi Matsumoto; Kunihiro Yoshida
Journal:  Cerebellum       Date:  2018-10       Impact factor: 3.847

5.  The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.

Authors:  Andreas Traschütz; Judith van Gaalen; Mayke Oosterloo; Maaike Vreeburg; Erik-Jan Kamsteeg; Natalie Deininger; Olaf Rieß; Matthias Reimold; Tobias Haack; Ludger Schöls; Bart P van de Warrenburg; Matthis Synofzik
Journal:  Parkinsonism Relat Disord       Date:  2018-11-29       Impact factor: 4.891

6.  Clinical features and outcome of patients with autoimmune cerebellar ataxia evaluated with the Scale for the Assessment and Rating of Ataxia.

Authors:  Valentina Damato; Claudia Papi; Gregorio Spagni; Amelia Evoli; Gabriella Silvestri; Gianvito Masi; Eleonora Sabatelli; Lucia Campetella; Andrew McKeon; Francesca Andreetta; Vittorio Riso; Gabriele Monte; Marco Luigetti; Guido Primiano; Paolo Calabresi; Raffaele Iorio
Journal:  Eur J Neurol       Date:  2021-11-09       Impact factor: 6.288

7.  Clinical features and genetic analysis of a new form of spinocerebellar ataxia.

Authors:  D Devos; S Schraen-Maschke; I Vuillaume; K Dujardin; P Nazé; C Willoteaux; A Destée; B Sablonnière
Journal:  Neurology       Date:  2001-01-23       Impact factor: 9.910

8.  Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21).

Authors:  J Delplanque; D Devos; I Vuillaume; A De Becdelievre; E Vangelder; C A Maurage; K Dujardin; A Destée; B Sablonnière
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

9.  TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.

Authors:  Jérôme Delplanque; David Devos; Vincent Huin; Alexandre Genet; Olivier Sand; Caroline Moreau; Cyril Goizet; Perrine Charles; Mathieu Anheim; Marie Lorraine Monin; Luc Buée; Alain Destée; Guillaume Grolez; Christine Delmaire; Kathy Dujardin; Delphine Dellacherie; Alexis Brice; Giovanni Stevanin; Isabelle Strubi-Vuillaume; Alexandra Dürr; Bernard Sablonnière
Journal:  Brain       Date:  2014-07-28       Impact factor: 13.501

10.  Spinocerebellar ataxia type 21 exists in the Chinese Han population.

Authors:  Sheng Zeng; Junsheng Zeng; Miao He; Xianfeng Zeng; Yao Zhou; Zhen Liu; Kun Xia; Qian Pan; Hong Jiang; Lu Shen; Xinxiang Yan; Beisha Tang; Junling Wang
Journal:  Sci Rep       Date:  2016-01-27       Impact factor: 4.379
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