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Journal Abstract Search

136 related items for PubMed ID: 38847051

  • 1. 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; 39(8):1343-1351. PubMed ID: 38847051
    [Abstract] [Full Text] [Related]

  • 2. An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study.
    Scaravilli A, Gabusi I, Mari G, Battocchio M, Bosticardo S, Schiavi S, Bender B, Kessler C, Brais B, La Piana R, van de Warrenburg BP, Cosottini M, Timmann D, PROSPAX Consortium, Daducci A, Schüle R, Synofzik M, Santorelli FM, Cocozza S.
    J Neurol; 2024 Aug; 271(8):5468-5477. PubMed ID: 38880819
    [Abstract] [Full Text] [Related]

  • 3. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) in a Thai Patient: The Classic Clinical Manifestations, Funduscopic Feature, and Brain Imaging Findings with a Novel Mutation in the SACS Gene.
    Srikajon J, Pitakpatapee Y, Limwongse C, Chirapapaisan N, Srivanitchapoom P.
    Tremor Other Hyperkinet Mov (N Y); 2020 Jun 08; 10():1. PubMed ID: 32775015
    [Abstract] [Full Text] [Related]

  • 4. 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 08; 36(9):2027-2035. PubMed ID: 33893680
    [Abstract] [Full Text] [Related]

  • 5. Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.
    Ashrafi MR, Mohammadi P, Tavasoli AR, Heidari M, Hosseinpour S, Rasulinejad M, Rohani M, Akbari MG, Malamiri RA, Badv RS, Fathi D, Dehnavi AZ, Savad S, Rabbani A, Synofzik M, Mahdieh N, Rezaei Z.
    Cerebellum; 2023 Aug 08; 22(4):640-650. PubMed ID: 35731353
    [Abstract] [Full Text] [Related]

  • 6. 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 08; 75(6):339-344. PubMed ID: 28658401
    [Abstract] [Full Text] [Related]

  • 7. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.
    Krygier M, Konkel A, Schinwelski M, Rydzanicz M, Walczak A, Sildatke-Bauer M, Płoski R, Sławek J.
    Neurol Neurochir Pol; 2017 Jun 08; 51(6):481-485. PubMed ID: 28843771
    [Abstract] [Full Text] [Related]

  • 8. Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients.
    Divya KP, Cherian A, Dhing HK, Kumar S, Thomas B, Faruq M.
    Acta Neurol Belg; 2024 Apr 08; 124(2):475-484. PubMed ID: 37898963
    [Abstract] [Full Text] [Related]

  • 9. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.
    Aida I, Ozawa T, Fujinaka H, Goto K, Ohta K, Nakajima T.
    Intern Med; 2021 Dec 15; 60(24):3963-3967. PubMed ID: 34121011
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Spastic ataxias.
    Bereznyakova O, Dupré N.
    Handb Clin Neurol; 2018 Mar 15; 155():191-203. PubMed ID: 29891058
    [Abstract] [Full Text] [Related]

  • 12. Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Parkinson MH, Bartmann AP, Clayton LMS, Nethisinghe S, Pfundt R, Chapple JP, Reilly MM, Manji H, Wood NJ, Bremner F, Giunti P.
    Brain; 2018 Apr 01; 141(4):989-999. PubMed ID: 29538656
    [Abstract] [Full Text] [Related]

  • 13. Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS.
    Rezende Filho FM, Parkinson MH, Pedroso JL, Poh R, Faber I, Lourenço CM, Júnior WM, França Junior MC, Kok F, Sallum JMF, Giunti P, Barsottini OGP.
    Parkinsonism Relat Disord; 2019 May 01; 62():148-155. PubMed ID: 30638817
    [Abstract] [Full Text] [Related]

  • 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 01; 42(7):2969-2973. PubMed ID: 33559790
    [Abstract] [Full Text] [Related]

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  • 16. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family.
    Pedroso JL, Braga-Neto P, Abrahão A, Rivero RL, Abdalla C, Abdala N, Barsottini OG.
    Arq Neuropsiquiatr; 2011 Jul 01; 69(2B):288-91. PubMed ID: 21625752
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 18(4):807-812. PubMed ID: 30963395
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  • 19. Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
    Vogel AP, Rommel N, Oettinger A, Stoll LH, Kraus EM, Gagnon C, Horger M, Krumm P, Timmann D, Storey E, Schöls L, Synofzik M.
    J Neurol; 2018 Sep 01; 265(9):2060-2070. PubMed ID: 29968200
    [Abstract] [Full Text] [Related]

  • 20. Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Chamova T, Ivanova N, Cherninkova S, Koleva M, Zlatareva D, Bojinova V, Mihova K, Georgiev M, Ferdinandov D, Bichev S, Kaneva R, Mitev V, Jordanova A, Tournev I.
    Mol Genet Genomic Med; 2024 Jul 01; 12(7):e2483. PubMed ID: 39044368
    [Abstract] [Full Text] [Related]

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