Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2

被引：0

作者：

Nyamkhishig Sambuughin

Lev G. Goldfarb

Tatiana M. Sivtseva

Tatiana K. Davydova

Vsevolod A. Vladimirtsev

Vladimir L. Osakovskiy

Al’bina P. Danilova

Raisa S. Nikitina

Anastasia N. Ylakhova

Margarita P. Diachkovskaya

Anna C. Sundborger

Neil M. Renwick

Fyodor A. Platonov

Jenny E. Hinshaw

Camilo Toro

机构：

[1] Uniformed Services University,Consortium for Health and Military Performance

[2] National Institute of Health,National Institute of Neurological Disorders and Stroke

[3] M.K. Ammosov North-Eastern Federal University,Institute of Health

[4] National Institutes of Health,National Institute of Diabetes and Digestive and Kidney Diseases

[5] Queen’s University,Department of Pathology and Molecular Medicine

[6] Kingston General Hospital,National Human Genome Research Institute

[7] National Institutes of Health,undefined

来源：

BMC Neurology | / 15卷

关键词：

Paraplegia; HSP; Dynamin; Neuropathy; Exome sequencing; Endocytosis;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

共 40 条

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Kozic, Dusko
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Aleksandra M. Pavlovic
Graziella Uziel
Dusko Kozic
Jelena Ostojic
Attilio Rovelli
Nadezda Sternic
Mladen Bjelan
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[29] Motor evoked potentials from the external anal sphincter in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p
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[30] A New Phenotype of TUBB4A Mutation in a Family With Adult-Onset Progressive Spastic Paraplegia and Isolated Hypomyelination Leukodystrophy: A Case Report and Literature Review
Hsieh, Pei-Chen
Yu, Pei Shan
Fan, Wen-Lang
Wang, Chun-Chieh
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Wu, Yih-Ru
JOURNAL OF MOVEMENT DISORDERS, 2024, 17 (01) : 94 - 98

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