Abnormal leukocyte galactocerebrosidase activity complicating a diagnosis of hereditary spastic paraplegia 15 (SPG-15)

被引：0

作者：

Davison, James E. ^{[1
]}

Beesley, Clare ^{[1
]}

Hurst, Jane A. ^{[1
]}

Wigley, Ralph ^{[1
]}

Anderson, Glenn ^{[1
]}

Cregeen, David ^{[2
]}

Green, Elizabeth ^{[2
]}

Jackson, Marie ^{[2
]}

Bhate, Sanjay ^{[1
]}

D'Arco, Felice ^{[1
]}

Cleary, Maureen A. ^{[1
]}

Heales, Simon R. ^{[1
]}

Harvey, Katie ^{[1
]}

Burke, Derek ^{[1
]}

机构：

[1] Great Ormond St Hosp Sick Children, London, England

[2] Viapath Analyt LLP, London, England

来源：

MOLECULAR GENETICS AND METABOLISM | 2017年 / 120卷 / 1-2期

关键词：

D O I：

10.1016/j.ymgme.2016.11.076

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：S39 / S39

页数：1

共 45 条

[41] Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome
Hanein, Sylvain
Martin, Elodie
Boukhris, Amir
Byrne, Paula
Goizet, Cyril
Hamri, Abdelmadjid
Benomar, Ali
Lossos, Alexander
Denora, Paola
Fernandez, Jose
Elleuch, Nizar
Forlani, Sylvie
Durr, Alexandra
Feki, Imed
Hutchinson, Michael
Santorelli, Filippo M.
Mhiri, Chokri
Brice, Alexis
Stevanin, Giovanni
AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (04) : 992 - 1002
[42] Chromosome 15q linked autosomal dominant hereditary spastic paraplegia: new mapping information and candidate gene analysis.
Rainier, SR
Jones, SM
Bui, M
Fink, JK
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 391 - 391
[43] Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population
Denora, Paola S.
Muglia, Maria
Casali, Carlo
Truchetto, Jeremy
Silvestri, Gabriella
Messina, Demetrio
Boukrhis, Amir
Magariello, Angela
Modoni, Anna
Masciullo, Marcella
Malandrini, Alessandro
Morelli, Maurizio
de Leva, Maria Fulvia
Villanova, Marcello
Giugni, Elisabetta
Citrigno, Luigi
Rizza, Teresa
Federico, Antonio
Pierallini, Alberto
Quattrone, Aldo
Filla, Alessandro
Brice, Alexis
Stevanin, Giovanni
Santorelli, Filippo M.
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, 277 (1-2) : 22 - 25
[44] Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis
Vinci, Mirella
Fichera, Marco
Musumeci, Sebastiano Antonino
Cali, Francesco
Vitello, Girolamo Aurelio
JOURNAL OF GENETICS, 2018, 97 (05) : 1469 - 1472
[45] Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis
Mirella Vinci
Marco Fichera
Sebastiano Antonino Musumeci
Francesco Cali
Girolamo Aurelio Vitello
Journal of Genetics, 2018, 97 : 1469 - 1472

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