Loss-of-function of AMFR causes autosomal recessive hereditary spastic paraplegia by altering lipid metabolism

被引：0

作者：

Deng, Ruizhi ^{[1
,2
]}

Salsench, Eva Medico ^{[1
]}

Nikoncuk, Anita ^{[1
]}

Kuhn, Niko ^{[1
]}

Ramakrishnan, Reshmi ^{[3
]}

Lanko, Kristina ^{[1
]}

Sanderson, Leslie ^{[1
]}

van der Linde, Herma C. ^{[1
,5
]}

Yousefi, Soheil ^{[1
]}

Capo, Ivan ^{[4
]}

van den Herik, Evita Medici

van Slegtenhorst, Marjon ^{[1
]}

van Minkelen, Rick ^{[1
]}

Willemsen, Rob ^{[1
]}

de Valk, Walter ^{[1
,2
]}

Geeven, Geert ^{[1
,2
]}

Metcalfe, Kay ^{[6
]}

De Simone, Lenika ^{[7
]}

Kuntz, Nancy ^{[7
]}

Bouman, Arjan ^{[1
]}

Hoefsloot, Lies ^{[1
,2
]}

Zaki, Maha ^{[8
]}

Gleeson, Joseph ^{[9
,10
]}

Arold, Stefan T. ^{[3
,11
]}

Van Ham, Tjakko ^{[1
]}

Maroofian, Reza ^{[12
]}

Barakat, Stefan ^{[1
,2
]}

机构：

[1] Erasmus MC Univ, Clin Genet, Med Ctr, Rotterdam, Netherlands

[2] Erasmus MC Univ, Dept Clin Genet, Whole Genome Sequencing Implementat & Res Task Fo, Med Ctr, Rotterdam, Netherlands

[3] King Abdullah Univ Sci & Technol, Div Biol & Environm Sci & Engn BESE, Comp Biosci Res Ctr CBRC, Thuwal, Saudi Arabia

[4] Univ Novi Sad, Med Fac Novi Sad, Novi Sad, Serbia

[5] Erasmus MC Univ Med Ctr, Dept Neurol, Rotterdam, Netherlands

[6] Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, St Marys Hosp, Manchester, Lancs, England

[7] Ann & Robert H Lurie Childrens Hosp Chicago, Div Neurol, Div Genet, Chicago, IL USA

[8] Natl Res Ctr, Human Genet & Genome Res Div, Ctr Excellence Human Genet, Cairo, Egypt

[9] Univ Calif San Diego, Howard Hughes Med Inst, Dept Neurosci, Rady Childrens Inst Genom Med, San Diego, CA USA

[10] Univ Calif San Diego, Howard Hughes Med Inst, Dept Pediat, Rady Childrens Inst Genom Med, San Diego, CA USA

[11] Univ Montpellier, Ctr Biol Struct, Montpellier, France

[12] UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

PL2.4

引用

页码：4 / 5

页数：2