SCOPUS 정보 검색 플랫폼

Volumn 261, Issue 9, 2014, Pages 1825-1827

Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene

(6) Giannoccaro, Maria Pia a,b Liguori, Rocco a,b Arnoldi, Alessia c Donadio, Vincenzo b Avoni, Patrizia a,b Bassi, Maria Teresa c

a UNIVERSITY OF BOLOGNA (Italy)

b IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA (Italy)

c SCIENTIFIC INSTITUTE (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; SPG11 PROTEIN, HUMAN;

ADULT; CASE REPORT; CORPUS CALLOSUM; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; MALE; MIDDLE AGED; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ADULT; CORPUS CALLOSUM; DNA MUTATIONAL ANALYSIS; HETEROZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION, MISSENSE; PROTEINS; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84939881214 PISSN: 03405354 EISSN: 14321459 Source Type: Journal
DOI: 10.1007/s00415-014-7443-3 Document Type: Letter

Times cited : (13)

References (5)

1
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- Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
- PID: 18079167
- Stevanin G, Azzedine H, Denora P, On behalf of the SPATAX Consortium et al (2008) Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 131:772–784
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- Stevanin, G.¹ Azzedine, H.² Denora, P.³ On behalf of the SPATAX Consortium⁴

2
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- Forceps minor region signal abnormality “ears of the lynx”: an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15
- COI: 1:STN:280:DC%2BD1M7hs1WqtA%3D%3D, PID: 19040626
- Riverol M, Samaranch L, Pascual B et al (2009) Forceps minor region signal abnormality “ears of the lynx”: an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15. J Neuroimaging 19:52–60
- (2009) J Neuroimaging , vol.19 , pp. 52-60
- Riverol, M.¹ Samaranch, L.² Pascual, B.³

3
- 57449117098
- Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity
- COI: 1:STN:280:DC%2BD1M%2FjsFymuw%3D%3D, PID: 19087158
- Pippucci T, Panza E, Pompilii E et al (2009) Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity. Eur J Neurol 16:121–126
- (2009) Eur J Neurol , vol.16 , pp. 121-126
- Pippucci, T.¹ Panza, E.² Pompilii, E.³

4
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- Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation
- COI: 1:STN:280:DC%2BC38%2Fot1ektw%3D%3D, PID: 22175763
- Yoon WT, Lee WY, Lee ST, Ahn JY, Ki CS, Cho JW (2012) Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation. Eur J Neurol 19:e7–e8
- (2012) Eur J Neurol , vol.19 , pp. e7-e8
- Yoon, W.T.¹ Lee, W.Y.² Lee, S.T.³ Ahn, J.Y.⁴ Ki, C.S.⁵ Cho, J.W.⁶

5
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- Atypical hereditary spastic paraplegia mimicking multiple sclerosis associated with a novel SPG11 mutation
- COI: 1:STN:280:DC%2BC2cvosVWhsg%3D%3D, PID: 24571105
- Romagnolo A, Masera S, Mattioda A et al (2014) Atypical hereditary spastic paraplegia mimicking multiple sclerosis associated with a novel SPG11 mutation. Eur J Neurol 21:e14–e15
- (2014) Eur J Neurol , vol.21 , pp. e14-e15
- Romagnolo, A.¹ Masera, S.² Mattioda, A.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.