Mixed Cerebellar Ataxia in a Patient with a Novel FAT2 Gene Variant Associated with SCA45

被引：0

作者：

Richmond, A.

Nashatizadeh, M.

Townley, R.

机构：

来源：

MOVEMENT DISORDERS | 2024年 / 39卷

关键词：

D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

1292

引用

页码：S601 / S602

页数：2

共 6 条

[1] A Patient with Late-Onset Cerebellar Ataxia and a Novel FAT2 Gene Variant Concerning for Spinocerebellar Ataxia Type 45: A Case Report [J].

Ameri, Andrew ;

Rosenbaum, Marc ;

Kirby, Alana .

NEUROLOGY, 2023, 100 (17)

[2] Think of SCA45 in Late-Onset Familial Ataxias: The First Report from the Indian Subcontinent with a Novel Variant [J].

Ganguly, Jacky ;

Mukherjee, Soumava ;

Basu, Purba ;

Mondal, Banashree ;

Chatterjee, Koustav ;

Roy, Akash ;

Pande, Priyadarshini ;

Kumar, Hrishikesh .

MOVEMENT DISORDERS CLINICAL PRACTICE, 2022, 9 (08) :1140-1143

[3] Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia [J].

Nibbeling, Esther A. R. ;

Duarri, Anna ;

Verschuuren-Bemelmans, Corien C. ;

Fokkens, Michiel R. ;

Karjalainen, Juha M. ;

Smeets, Cleo J. L. M. ;

de Boer-Bergsma, Jelkje J. ;

van der Vries, Gerben ;

Dooijes, Dennis ;

Bampi, Giovana B. ;

van Diemen, Cleo ;

Brunt, Ewout ;

Ippel, Elly ;

Kremer, Berry ;

Vlak, Monique ;

Adir, Noam ;

Wijmenga, Cisca ;

van de Warrenburg, Bart P. C. ;

Franke, Lude ;

Sinke, Richard J. ;

Verbeek, Dineke S. .

BRAIN, 2017, 140 :2860-2878

[4] Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS [J].

Rafehi, Haloom ;

Szmulewicz, David J. ;

Bennett, Mark F. ;

Sobreira, Nara L. M. ;

Pope, Kate ;

Smith, Katherine R. ;

Gillies, Greta ;

Diakumis, Peter ;

Dolzhenko, Egor ;

Eberle, Michael A. ;

Garcia Barcina, Maria ;

Breen, David P. ;

Chancellor, Andrew M. ;

Cremer, Phillip D. ;

Delatycki, Martin B. ;

Fogel, Brent L. ;

Hackett, Anna ;

Halmagyi, G. Michael ;

Kapetanovic, Solange ;

Lang, Anthony ;

Mossman, Stuart ;

Mu, Weiyi ;

Patrikios, Peter ;

Perlman, Susan L. ;

Rosemergy, Ian ;

Storey, Elsdon ;

Watson, Shaun R. D. ;

Wilson, Michael A. ;

Zee, David S. ;

Valle, David ;

Amor, David J. ;

Bahlo, Melanie ;

Lockhart, Paul J. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2019, 105 (01) :151-165

[5] Autosomal dominant cerebellar ataxias: a systematic review of clinical features [J].

Rossi, M. ;

Perez-Lloret, S. ;

Doldan, L. ;

Cerquetti, D. ;

Balej, J. ;

Millar Vernetti, P. ;

Hawkes, M. ;

Cammarota, A. ;

Merello, M. .

EUROPEAN JOURNAL OF NEUROLOGY, 2014, 21 (04) :607-615

[6] Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia? [J].

Silva, Thiago Tonholo Y. ;

Rosa, Augusto B. R. ;

Quaio, Caio R. ;

Verbeek, Dineke ;

Pedroso, Jose Luiz ;

Barsottini, Orlando .

NEUROLOGY-GENETICS, 2021, 7 (03) :e581

← 1 →