White matter abnormalities in 15 subjects with SPG76
Author:
Funder
Spastic Paraplegia Foundation
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
https://link.springer.com/content/pdf/10.1007/s00415-023-11918-5.pdf
Reference28 articles.
1. Mackay-Sim A (2021) Hereditary spastic paraplegia: from genes, cells and networks to novel pathways for drug discovery. Brain Sci 11:403
2. Hirst J, Madeo M, Smets K, Edgar JR, Schols L, Li J, Yarrow A, Deconinck T, Baets J, Van Aken E, De Bleecker J, Datiles MB 3rd, Roda RH, Liepert J, Zuchner S, Mariotti C, De Jonghe P, Blackstone C, Kruer MC (2016) Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48). Neurol Genet 2:e98
3. Martin E, Schüle R, Smets K, Rastetter A, Boukhris A, Loureiro JL, Gonzalez MA, Mundwiller E, Deconinck T, Wessner M (2013) Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Am J Hum Genet 92:238–244
4. Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Sailer A, Liu G, Mistry PK, Cai H, Shrader G, Sassi C, Bouhlal Y, Houlden H, Hentati F, Amouri R, Singleton AB (2013) Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet 92:245–251
5. Shribman S, Reid E, Crosby AH, Houlden H, Warner TT (2019) Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches. Lancet Neurol 18:1136–1146
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