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Journal Abstract Search

182 related items for PubMed ID: 38928084

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  • 2. Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases.
    Zaman Q, Khan MA, Sahar K, Rehman G, Khan H, Rehman M, Najumuddin, Ahmad I, Tariq M, Muthaffar OY, Abdulkareem AA, Bibi F, Naseer MI, Faisal MS, Wasif N, Jelani M.
    Genes (Basel); 2023 Jan 27; 14(2):. PubMed ID: 36833258
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  • 5. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.
    Kamada S, Okawa S, Imota T, Sugawara M, Toyoshima I.
    J Neurol; 2008 Jun 27; 255(6):803-6. PubMed ID: 18484239
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  • 6. Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.
    Wang Z, Song Y, Wang X, Li X, Xu F, Si L, Dong Y, Yao T, Zhu J, Lai H, Li W, Lin F, Huang H, Wang C.
    Neurosci Lett; 2021 May 01; 752():135831. PubMed ID: 33746006
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  • 7. NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
    Berciano J, Peeters K, García A, López-Alburquerque T, Gallardo E, Hernández-Fabián A, Pelayo-Negro AL, De Vriendt E, Infante J, Jordanova A.
    J Neurol; 2016 Feb 01; 263(2):361-369. PubMed ID: 26645395
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  • 8. Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
    Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, Haack TB, Schöning M, Biskup S, Rudnik-Schöneborn S, Senderek J, Hoffmann KT, MacLeod P, Schwarz J, Bender B, Krüger S, Kreuz F, Bauer P, Schöls L.
    Orphanet J Rare Dis; 2013 Mar 15; 8():41. PubMed ID: 23497566
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  • 11. ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
    Vermeer S, Meijer RP, Pijl BJ, Timmermans J, Cruysberg JR, Bos MM, Schelhaas HJ, van de Warrenburg BP, Knoers NV, Scheffer H, Kremer B.
    Neurogenetics; 2008 Jul 15; 9(3):207-14. PubMed ID: 18465152
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  • 12. Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.
    Çakar A, İnci M, Özdağ Acarlı AN, Çomu S, Candayan A, Battaloğlu E, Tekgül Ş, Başak AN, Durmuş H, Parman Y.
    Acta Neurol Scand; 2022 May 15; 145(5):619-626. PubMed ID: 35130357
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  • 14. A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Samanci B, Gokalp EE, Bilgic B, Gurvit H, Artan S, Hanagasi HA.
    Neurol Sci; 2021 Jul 15; 42(7):2969-2973. PubMed ID: 33559790
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  • 15. ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India.
    Kuchay RAH, Mir YR, Zeng X, Hassan A, Musarrat J, Parwez I, Kernstock C, Traschütz A, Synofzik M.
    Cerebellum; 2019 Aug 15; 18(4):807-812. PubMed ID: 30963395
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  • 17. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.
    Burguêz D, Oliveira CM, Rockenbach MABC, Fussiger H, Vedolin LM, Winckler PB, Maestri MK, Finkelsztejn A, Santorelli FM, Jardim LB, Saute JAM.
    Arq Neuropsiquiatr; 2017 Jun 15; 75(6):339-344. PubMed ID: 28658401
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  • 18. Sacsinopathies: sacsin-related ataxia.
    Takiyama Y.
    Cerebellum; 2007 Jun 15; 6(4):353-9. PubMed ID: 17853117
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  • 19. Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Tzoulis C, Johansson S, Haukanes BI, Boman H, Knappskog PM, Bindoff LA.
    PLoS One; 2013 Jun 15; 8(6):e66145. PubMed ID: 23785480
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