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2. Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families. Pashaei M; Davarzani A; Hajati R; Zamani B; Nafissi S; Larti F; Nilipour Y; Rohani M; Alavi A J Neurogenet; 2021; 35(2):84-94. PubMed ID: 33771085 [TBL] [Abstract][Full Text] [Related]
3. A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants. Kilic MA; Yildiz EP; Deniz A; Coskun O; Kurekci F; Avci R; Genc HM; Yesil G; Akbas S; Yesilyurt A; Kara B Pediatr Neurol; 2024 Mar; 152():189-195. PubMed ID: 38301322 [TBL] [Abstract][Full Text] [Related]
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8. Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in Yu AC; Chan AY; Au WC; Shen Y; Chan TF; Chan HE Cold Spring Harb Mol Case Stud; 2016 Nov; 2(6):a001248. PubMed ID: 27900367 [TBL] [Abstract][Full Text] [Related]
9. A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature. Chouery E; Mehawej C; Megarbane A Neurogenetics; 2022 Apr; 23(2):85-90. PubMed ID: 35041108 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. Klebe S; Stevanin G; Depienne C Rev Neurol (Paris); 2015; 171(6-7):505-30. PubMed ID: 26008818 [TBL] [Abstract][Full Text] [Related]
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13. Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families. Zulfiqar S; Tariq M; Ali Z; Fatima A; Klar J; Abdullah U; Ali A; Ramzan S; He S; Zhang J; Khan A; Shah S; Khan S; Makhdoom EH; Schuster J; Dahl N; Baig SM J Clin Neurosci; 2019 Sep; 67():19-23. PubMed ID: 31281085 [TBL] [Abstract][Full Text] [Related]
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20. MYO1H is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia. Selçuk E; Kırımtay K; Temizci B; Akarsu Ş; Everest E; Baslo MB; Demirkıran M; Yapıcı Z; Karabay A Mol Genet Genomics; 2022 Jul; 297(4):1141-1150. PubMed ID: 35704118 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]