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

[21] Compound heterozygous mutation of AFG3L2 causes autosomal recessive spinocerebellar ataxia through mitochondrial impairment and MICU1 mediated Ca2+ overload
Li, Hongyu
Ma, Qingwen
Xue, Yan
Cai, Linlin
Bao, Liwen
Hong, Lei
Zeng, Yitao
Huang, Shu-Zhen
Finnell, Richard H.
Zeng, Fanyi
SCIENCE CHINA-LIFE SCIENCES, 2025, 68 (02) : 484 - 501
[22] AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients
Colucci, Fabiana
Neri, Marcella
Fortunato, Fernanda
Ferlini, Alessandra
Carrozzo, Rosalba
Torraco, Alessandra
Lamantea, Eleonora
Legati, Andrea
Tecilla, Ginevra
Pugliatti, Maura
Sensi, Mariachiara
CEREBELLUM, 2023, 22 (06): : 1313 - 1319
[23] SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy
Kirsten Svenstrup
Troels Tolstrup Nielsen
Frederik Aidt
Nina Rostgaard
Morten Duno
Flemming Wibrand
Tua Vinther-Jensen
Ian Law
John Vissing
Peter Roos
Lena Elisabeth Hjermind
Jørgen Erik Nielsen
The Cerebellum, 2017, 16 : 62 - 67
[24] AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients
Fabiana Colucci
Marcella Neri
Fernanda Fortunato
Alessandra Ferlini
Rosalba Carrozzo
Alessandra Torraco
Eleonora Lamantea
Andrea Legati
Ginevra Tecilla
Maura Pugliatti
Mariachiara Sensi
The Cerebellum, 2023, 22 : 1313 - 1319
[25] SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy
Svenstrup, Kirsten
Nielsen, Troels Tolstrup
Aidt, Frederik
Rostgaard, Nina
Duno, Morten
Wibrand, Flemming
Vinther-Jensen, Tua
Law, Ian
Vissing, John
Roos, Peter
Hjermind, Lena Elisabeth
Nielsen, Jorgen Erik
CEREBELLUM, 2017, 16 (01): : 62 - 67
[26] A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability
Charif, Majida
Roubertie, Agathe
Salime, Sara
Mamouni, Sonia
Goizet, Cyril
Hamel, Christian P.
Lenaers, Guy
FRONTIERS IN GENETICS, 2015, 6
[27] Identification and characterization of AFG3L2, a novel paraplegin-related gene
Banfi, S
Bassi, MT
Andolfi, G
Marchitiello, A
Zanotta, S
Ballabio, A
Casari, G
Franco, B
GENOMICS, 1999, 59 (01) : 51 - 58
[28] Spastic ataxia and pseudo eye-of-the-tiger sign in a familiy with a novel compound heterozygous AFG3L2 mutations
Calandra, C.
Buda, G.
Vishnopolska, S.
Oliveri, J.
Olivieri, F.
Biagioli, G.
Miquelini, L.
Pellene, A.
Marti, M.
MOVEMENT DISORDERS, 2019, 34 : S167 - S168
[29] The mitochondrial protease AFG3L2 is essential for axonal development
Maltecca, Francesca
Aghaie, Asadollah
Schroeder, David G.
Cassina, Laura
Taylor, Benjamin A.
Phillips, Sandra J.
Malaguti, Mariachiara
Previtali, Stefano
Guenet, Jean-Louis
Quattrini, Angelo
Cox, Gregory A.
Casari, Giorgio
JOURNAL OF NEUROSCIENCE, 2008, 28 (11): : 2827 - 2836
[30] Mutation screening of AFG3L2 in Indian cerebellar ataxia patients: an early onset cerebellar ataxia with digenic mutations in AAAproteases ideintified through whole exome sequencing
Faruq, M.
Kumari, R.
Suroliya, V.
Srivastava, A. K.
MOVEMENT DISORDERS, 2015, 30 : S358 - S358

← 1 2 3 4 5 →