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2. A novel phenotype of hereditary spastic paraplegia type 7 associated with a compound heterozygous mutation in paraplegin. Mahoney CJ; Dharmadasa T; Huynh W; Halpern JP; Vucic S; Mowat D; Kiernan MC Muscle Nerve; 2020 Jul; 62(1):E44-E45. PubMed ID: 32270516 [No Abstract] [Full Text] [Related]
3. Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene. Bhattacharjee S; Beauchamp N; Murray BE; Lynch T Neurosciences (Riyadh); 2017 Oct; 22(4):303-307. PubMed ID: 29057857 [TBL] [Abstract][Full Text] [Related]
4. Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. Tzoulis C; Denora PS; Santorelli FM; Bindoff LA J Neurol; 2008 Aug; 255(8):1142-4. PubMed ID: 18563470 [TBL] [Abstract][Full Text] [Related]
5. Novel homozygous SPG7 missense mutation in a Chinese hereditary spastic paraplegia family. Mao F; Bao M; Fan Y; Zhu M; Li X Acta Neurol Belg; 2020 Dec; 120(6):1453-1455. PubMed ID: 32002796 [No Abstract] [Full Text] [Related]
6. Early Onset Degenerative Parkinsonism - Consider SPG7 Mutation. Bhattacharjee S; Noushad M; Sadler M Neurol India; 2021; 69(4):1051-1052. PubMed ID: 34507444 [TBL] [Abstract][Full Text] [Related]
7. ''Eye of tiger sign" mimic in patients with spastic paraplegia gene 7 (SPG7) mutations. Rizzo G; Tonon C; Gramegna LL; Bassi MT; Lodi R; Liguori R Parkinsonism Relat Disord; 2020 Dec; 81():158-160. PubMed ID: 33157434 [No Abstract] [Full Text] [Related]
8. Hereditary spastic paraplegia: the pace quickens. Fink JK Ann Neurol; 2002 Jun; 51(6):669-72. PubMed ID: 12112070 [No Abstract] [Full Text] [Related]
14. Exome Sequencing Identifies a Mutation (Y740C) in Spastic Paraplegia 7 Gene Associated with Adult-Onset Primary Lateral Sclerosis in a Chinese Family. Liu Y; Xu J; Tao W; Fu C; Liu J; Yu R; Zhang X Eur Neurol; 2019; 81(1-2):87-93. PubMed ID: 31117107 [TBL] [Abstract][Full Text] [Related]
15. A Spanish family with a compound heterozygous mutation in SPG7: From uncertainty to clinical reality. Fernández-Moreno MC; Castro-Fernández C; Viloria-Peñas MM; Castilla-Guerra L Neurologia (Engl Ed); 2020; 35(9):694-696. PubMed ID: 32204931 [No Abstract] [Full Text] [Related]
16. Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia. Seo Y; Lim HT; Lee BJ; Han J Am J Med Genet A; 2023 Feb; 191(2):582-585. PubMed ID: 36367250 [TBL] [Abstract][Full Text] [Related]
17. Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia. Sambri I; Massa F; Gullo F; Meneghini S; Cassina L; Carraro M; Dina G; Quattrini A; Patanella L; Carissimo A; Iuliano A; Santorelli F; Codazzi F; Grohovaz F; Bernardi P; Becchetti A; Casari G EBioMedicine; 2020 Nov; 61():103050. PubMed ID: 33045469 [TBL] [Abstract][Full Text] [Related]
18. Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations. Baviera-Muñoz R; Campins-Romeu M; Carretero-Vilarroig L; Sastre-Bataller I; Martínez-Torres I; Vázquez-Costa JF; Muelas N; Sevilla T; Vílchez JJ; Aller E; Jaijo T; Bataller L; Espinós C J Neurol Sci; 2021 Oct; 429():118062. PubMed ID: 34500365 [TBL] [Abstract][Full Text] [Related]
19. Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia. Battini R; Fogli A; Borghetti D; Michelucci A; Perazza S; Baldinotti F; Conidi ME; Ferreri MI; Simi P; Cioni G Eur J Neurol; 2011 Jan; 18(1):150-7. PubMed ID: 20550563 [TBL] [Abstract][Full Text] [Related]
20. Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. Balicza P; Grosz Z; Gonzalez MA; Bencsik R; Pentelenyi K; Gal A; Varga E; Klivenyi P; Koller J; Züchner S; Molnar JM J Neurol Sci; 2016 May; 364():116-21. PubMed ID: 27084228 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]