A novel AFG3L2 mutation in a Somalian patient with spinocerebellar ataxia type 28

被引：8

作者：

Qu, Jane ^{[1
]}

Wu, Connie K. ^{[1
]}

Zuzuarregui, Jose Rafael P. ^{[2
]}

Hohler, Anna D. ^{[2
]}

机构：

[1] Boston Univ, Sch Med, Boston, MA 02118 USA

[2] Boston Univ, Sch Med, Dept Neurol, Boston, MA 02118 USA

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2015年 / 358卷 / 1-2期

关键词：

Spinocerebellar ataxia; SCA28; AFG3L2; African descent; DOMINANT CEREBELLAR-ATAXIA; SLOW PROGRESSION; DELETION;

D O I：

10.1016/j.jns.2015.10.003

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：530 / 531

页数：2

共 50 条

[31] Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report [J].

Mizuno, Tomoko ;

Kashimada, Ayako ;

Nomura, Toshihiro ;

Moriyama, Kengo ;

Yokoyama, Haruna ;

Hasegawa, Setsuko ;

Takagi, Masatoshi ;

Mizutani, Shuki .

BRAIN & DEVELOPMENT, 2019, 41 (07) :630-633

[32] Early Symptoms in Spinocerebellar Ataxia Type 1, 2, 3, and 6 [J].

Globas, Christoph ;

du Montcel, Sophie Tezenas ;

Baliko, Laslo ;

Boesch, Syliva ;

Depondt, Chantal ;

DiDonato, Stefano ;

Durr, Alexandra ;

Filla, Alessandro ;

Klockgether, Thomas ;

Mariotti, Caterina ;

Melegh, Bela ;

Rakowicz, Maryla ;

Ribai, Pascale ;

Rola, Rafal ;

Schmitz-Hubsch, Tanja ;

Szymanski, Sandra ;

Timmann, Dagmar ;

Van de Warrenburg, Bart P. ;

Bauer, Peter ;

Schols, Ludger .

MOVEMENT DISORDERS, 2008, 23 (15) :2232-2238

[33] Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient [J].

Hiroyuki Morino ;

Ryosuke Miyamoto ;

Shizuo Ohnishi ;

Hirofumi Maruyama ;

Hideshi Kawakami .

BMC Neurology, 14

[34] Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient [J].

Morino, Hiroyuki ;

Miyamoto, Ryosuke ;

Ohnishi, Shizuo ;

Maruyama, Hirofumi ;

Kawakami, Hideshi .

BMC NEUROLOGY, 2014, 14

[35] Peripheral Neuropathy in Spinocerebellar Ataxia Type 1, 2, 3, and 6 [J].

Christoph Linnemann ;

Sophie Tezenas du Montcel ;

Maryla Rakowicz ;

Tanja Schmitz-Hübsch ;

Sandra Szymanski ;

Jose Berciano ;

Bart P. van de Warrenburg ;

Karine Pedersen ;

Chantal Depondt ;

Rafal Rola ;

Thomas Klockgether ;

Antonio García ;

Gurkan Mutlu ;

Ludger Schöls .

The Cerebellum, 2016, 15 :165-173

[36] Altered binaural hearing in pre-ataxic and ataxic mutation carriers of spinocerebellar ataxia type 3 [J].

Jacobi, Heike ;

Andermann, Martin ;

Faber, Jennifer ;

Baumann, Felicitas ;

Rupp, Andre .

CEREBELLUM, 2024, 23 (01) :172-180

[37] Altered binaural hearing in pre-ataxic and ataxic mutation carriers of spinocerebellar ataxia type 3 [J].

Heike Jacobi ;

Martin Andermann ;

Jennifer Faber ;

Felicitas Baumann ;

André Rupp .

The Cerebellum, 2024, 23 :172-180

[38] Pathoanatomy of Cerebellar Degeneration in Spinocerebellar Ataxia Type 2 (SCA2) and Type 3 (SCA3) [J].

W. Scherzed ;

E. R. Brunt ;

H. Heinsen ;

R. A. de Vos ;

K. Seidel ;

K. Bürk ;

L. Schöls ;

G. Auburger ;

D. Del Turco ;

T. Deller ;

H. W. Korf ;

W. F. den Dunnen ;

U. Rüb .

The Cerebellum, 2012, 11 :749-760

[39] Pathoanatomy of Cerebellar Degeneration in Spinocerebellar Ataxia Type 2 (SCA2) and Type 3 (SCA3) [J].

Scherzed, W. ;

Brunt, E. R. ;

Heinsen, H. ;

de Vos, R. A. ;

Seidel, K. ;

Buerk, K. ;

Schoels, L. ;

Auburger, G. ;

Del Turco, D. ;

Deller, T. ;

Korf, H. W. ;

den Dunnen, W. F. ;

Rueb, U. .

CEREBELLUM, 2012, 11 (03) :749-760

[40] On the distribution of intranuclear and cytoplasmic aggregates in the brainstem of patients with spinocerebellar ataxia type 2 and 3 [J].

Seidel, Kay ;

Siswanto, Sonny ;

Fredrich, Michaela ;

Bouzrou, Mohamed ;

den Dunnen, Wilfred F. A. ;

Oezerden, Inci ;

Korf, Horst-Werner ;

Melegh, Bela ;

de Vries, Jeroen J. ;

Brunt, Ewout R. ;

Auburger, Georg ;

Rueb, Udo .

BRAIN PATHOLOGY, 2017, 27 (03) :345-355

← 1 2 3 4 5 →