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Journal Abstract Search

302 related items for PubMed ID: 30963395

  • 21. Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers.
    Rezende Filho FM, Bremner F, Pedroso JL, de Andrade JBC, Marianelli BF, Lourenço CM, Marques-Júnior W, França MC, Kok F, Sallum JMF, Parkinson MH, Barsottini OG, Giunti P.
    Mov Disord; 2021 Sep; 36(9):2027-2035. PubMed ID: 33893680
    [Abstract] [Full Text] [Related]

  • 22. Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.
    Prodi E, Grisoli M, Panzeri M, Minati L, Fattori F, Erbetta A, Uziel G, D'Arrigo S, Tessa A, Ciano C, Santorelli FM, Savoiardo M, Mariotti C.
    Eur J Neurol; 2013 Jan; 20(1):138-46. PubMed ID: 22816526
    [Abstract] [Full Text] [Related]

  • 23. Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood.
    Sahin T, Karaarslan FT, Yilmaz R, Tekgül Ş, Başak AN, Akbostanci MC.
    Clin Neurol Neurosurg; 2021 Feb; 201():106423. PubMed ID: 33348119
    [No Abstract] [Full Text] [Related]

  • 24. A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
    Gregianin E, Vazza G, Scaramel E, Boaretto F, Vettori A, Leonardi E, Tosatto SC, Manara R, Pegoraro E, Mostacciuolo ML.
    Eur J Neurol; 2013 Nov; 20(11):1486-91. PubMed ID: 23800155
    [Abstract] [Full Text] [Related]

  • 25. Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder.
    Blumkin L, Bradshaw T, Michelson M, Kopler T, Dahari D, Lerman-Sagie T, Lev D, Chapple JP, Leshinsky-Silver E.
    Eur J Paediatr Neurol; 2015 Jul; 19(4):472-6. PubMed ID: 25819952
    [Abstract] [Full Text] [Related]

  • 26. Clinical and molecular studies in two new cases of ARSACS.
    Ricca I, Morani F, Bacci GM, Nesti C, Caputo R, Tessa A, Santorelli FM.
    Neurogenetics; 2019 Mar; 20(1):45-49. PubMed ID: 30680480
    [Abstract] [Full Text] [Related]

  • 27. Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity.
    Pi BK, Chung YH, Kim HS, Nam SH, Lee AJ, Nam DE, Park HJ, Kim SB, Chung KW, Choi BO.
    Int J Mol Sci; 2024 Jun 09; 25(12):. PubMed ID: 38928084
    [Abstract] [Full Text] [Related]

  • 28. 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 09; 8(6):e66145. PubMed ID: 23785480
    [Abstract] [Full Text] [Related]

  • 29. 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 09; 9(3):207-14. PubMed ID: 18465152
    [Abstract] [Full Text] [Related]

  • 30. 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 09; 145(5):619-626. PubMed ID: 35130357
    [Abstract] [Full Text] [Related]

  • 31. Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.
    Bagaria J, Bagyinszky E, An SSA.
    Int J Mol Sci; 2022 Jan 04; 23(1):. PubMed ID: 35008978
    [Abstract] [Full Text] [Related]

  • 32.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Vermeer S, van de Warrenburg BP, Kamsteeg EJ, Brais B, Synofzik M.
    ; 1993 Jan 04. PubMed ID: 20301432
    [Abstract] [Full Text] [Related]

  • 33. Diversity of ARSACS mutations in French-Canadians.
    Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupré N, Prévost C, Bouchard JP, Mathieu J, Brais B.
    Can J Neurol Sci; 2013 Jan 04; 40(1):61-6. PubMed ID: 23250129
    [Abstract] [Full Text] [Related]

  • 34. A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient.
    Liu L, Li XB, Zi XH, Shen L, Hu ZhM, Huang ShX, Yu DL, Li HB, Xia K, Tang BS, Zhang RX.
    J Neurol Sci; 2016 Mar 15; 362():111-4. PubMed ID: 26944128
    [Abstract] [Full Text] [Related]

  • 35. MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.
    Scaravilli A, Negroni D, Senatore C, Ugga L, Cosottini M, Ricca I, Bender B, Traschütz A, Başak AN, Vural A, van de Warrenburg BP, Durr A, La Piana R, Timmann D, PROSPAX Consortium, Schüle R, Synofzik M, Santorelli FM, Cocozza S.
    Mov Disord; 2024 Aug 15; 39(8):1343-1351. PubMed ID: 38847051
    [Abstract] [Full Text] [Related]

  • 36. Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Sánchez MG, Pérez JE, Pérez MR, Redondo AG.
    J Neurol Sci; 2015 Nov 15; 358(1-2):475-6. PubMed ID: 26344561
    [No Abstract] [Full Text] [Related]

  • 37. New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I.
    Ann Neurol; 2015 Dec 15; 78(6):871-86. PubMed ID: 26288984
    [Abstract] [Full Text] [Related]

  • 38. Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Vingolo EM, Di Fabio R, Salvatore S, Grieco G, Bertini E, Leuzzi V, Nesti C, Filla A, Tessa A, Pierelli F, Santorelli FM, Casali C.
    Eur J Neurol; 2011 Sep 15; 18(9):1187-90. PubMed ID: 21410841
    [Abstract] [Full Text] [Related]

  • 39. [Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay].
    Li S, Chen Y, Yuan X, Wei Q, Ou R, Gu X, Shang H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug 10; 35(4):507-510. PubMed ID: 30098244
    [Abstract] [Full Text] [Related]

  • 40. 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 10; 255(6):803-6. PubMed ID: 18484239
    [Abstract] [Full Text] [Related]

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