Refined SPG11 locus in autosomal recessive hereditary spastic paraplegia with thin corpus callosum

被引：0
|
作者：
Montagna, G
Valente, EM
Bertini, E
Brancati, F
Santorelli, FM
Dallapiccola, B
Casali, C
机构：
[1] Bambino Gesu Pediat Hosp, Rome, Italy
[2] CSS Mendel, Rome, Italy
[3] Univ Roma La Sapienza, Inst Neurol, I-00185 Rome, Italy
[4] Univ Roma La Sapienza, Inst Genet, I-00185 Rome, Italy
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2002年 / 10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：
引用
收藏
页码：272 / 272
页数：1
相关论文
共 50 条
  • [41] Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum
    Crimella, C.
    Arnoldi, A.
    Crippa, F.
    Mostacciuolo, M. L.
    Boaretto, F.
    Sironi, M.
    D'Angelo, M. Grazia
    Manzoni, S.
    Piccinini, L.
    Turconi, A. C.
    Toscano, A.
    Musumeci, O.
    Benedetti, S.
    Fazio, R.
    Bresolin, N.
    Daga, A.
    Martinuzzi, A.
    Bassi, M. T.
    JOURNAL OF MEDICAL GENETICS, 2009, 46 (05) : 345 - 351
  • [42] Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia
    Zhao, Wei
    Zhu, Qing-Yan
    Zhang, Jia-Tang
    Liu, Hui
    Wang, Li-Juan
    Chen, Zhi-Qiang
    Guan, Li-Ping
    Huang, Xu-Sheng
    Yang, Ling
    Yu, Sheng-Yuan
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2013, 335 (1-2) : 112 - 117
  • [43] A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy
    Al-Yahyaee, S
    Al-Gazali, LI
    De Jonghe, P
    Al-Barwany, H
    Al-Kindi, M
    De Vriendt, E
    Chand, P
    Koul, R
    Jacob, PC
    Gururaj, A
    Sztriha, L
    Parrado, A
    Van Broeckhoven, C
    Bayoumi, RA
    NEUROLOGY, 2006, 66 (08) : 1230 - 1234
  • [44] Quantification of dysarthrοphonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutation
    Kostas Konstantopoulos
    Eleni Zamba-Papanicolaou
    Kyproula Christodoulou
    Neurological Sciences, 2018, 39 : 1547 - 1550
  • [45] Quantification of dysarthrοphonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutation
    Konstantopoulos, Kostas
    Zamba-Papanicolaou, Eleni
    Christodoulou, Kyproula
    NEUROLOGICAL SCIENCES, 2018, 39 (09) : 1547 - 1550
  • [46] Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene
    Maria Pia Giannoccaro
    Rocco Liguori
    Alessia Arnoldi
    Vincenzo Donadio
    Patrizia Avoni
    Maria Teresa Bassi
    Journal of Neurology, 2014, 261 : 1825 - 1827
  • [47] Mild cognitive impairment in novel SPG11 mutation-related sporadic hereditary spastic paraplegia with thin corpus callosum: case series
    Chuan Li
    Qi Yan
    Feng-ju Duan
    Chao Zhao
    Zhuo Zhang
    Ying Du
    Wei Zhang
    BMC Neurology, 21
  • [48] Hereditary spastic paraplegia with a thin corpus callosum
    Somasundaram, Sivaraman
    Raghavendra, Seetharam
    Singh, Atampreet
    Kesavadas, Chandrasekharan
    Nair, Muraleedharan
    PEDIATRIC RADIOLOGY, 2007, 37 (05) : 503 - 505
  • [49] Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene
    Giannoccaro, Maria Pia
    Liguori, Rocco
    Arnoldi, Alessia
    Donadio, Vincenzo
    Avoni, Patrizia
    Bassi, Maria Teresa
    JOURNAL OF NEUROLOGY, 2014, 261 (09) : 1825 - 1827
  • [50] Hereditary spastic paraplegia with a thin corpus callosum
    Sivaraman Somasundaram
    Seetharam Raghavendra
    Atampreet Singh
    Chandrasekharan Kesavadas
    Muraleedharan Nair
    Pediatric Radiology, 2007, 37 : 503 - 505
12345