These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

182 related items for PubMed ID: 38928084

  • 21. 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]

  • 22. [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]

  • 23. Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Takiyama Y.
    Neuropathology; 2006 Aug 10; 26(4):368-75. PubMed ID: 16961075
    [Abstract] [Full Text] [Related]

  • 24. A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.
    Hong YB, Lee JH, Park JM, Choi YR, Hyun YS, Yoon BR, Yoo JH, Koo H, Jung SC, Chung KW, Choi BO.
    BMC Med Genet; 2013 Dec 05; 14():125. PubMed ID: 24314034
    [Abstract] [Full Text] [Related]

  • 25. A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.
    Breckpot J, Takiyama Y, Thienpont B, Van Vooren S, Vermeesch JR, Ortibus E, Devriendt K.
    Eur J Hum Genet; 2008 Sep 05; 16(9):1050-4. PubMed ID: 18398442
    [Abstract] [Full Text] [Related]

  • 26. Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.
    Kim HJ, Hong YB, Park JM, Choi YR, Kim YJ, Yoon BR, Koo H, Yoo JH, Kim SB, Park M, Chung KW, Choi BO.
    Orphanet J Rare Dis; 2013 Jul 12; 8():104. PubMed ID: 23844677
    [Abstract] [Full Text] [Related]

  • 27. Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.
    Grieco GS, Malandrini A, Comanducci G, Leuzzi V, Valoppi M, Tessa A, Palmeri S, Benedetti L, Pierallini A, Gambelli S, Federico A, Pierelli F, Bertini E, Casali C, Santorelli FM.
    Neurology; 2004 Jan 13; 62(1):103-6. PubMed ID: 14718707
    [Abstract] [Full Text] [Related]

  • 28. BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease.
    Kim SJ, Nam SH, Kanwal S, Nam DE, Yoo DH, Chae JH, Suh YL, Chung KW, Choi BO.
    Genes Genomics; 2018 Dec 13; 40(12):1269-1277. PubMed ID: 30145633
    [Abstract] [Full Text] [Related]

  • 29. 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]

  • 30. 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 01; 78(6):871-86. PubMed ID: 26288984
    [Abstract] [Full Text] [Related]

  • 31. 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 01; 22(4):640-650. PubMed ID: 35731353
    [Abstract] [Full Text] [Related]

  • 32.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 33.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 34.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 35.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 36. A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.
    Xiromerisiou G, Dadouli K, Marogianni C, Provatas A, Ntellas P, Rikos D, Stathis P, Georgouli D, Loules G, Zamanakou M, Hadjigeorgiou GM.
    J Mol Neurosci; 2020 Jan 01; 70(1):131-141. PubMed ID: 31701440
    [Abstract] [Full Text] [Related]

  • 37. 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]

  • 38. Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.
    Ando M, Hashiguchi A, Okamoto Y, Yoshimura A, Hiramatsu Y, Yuan J, Higuchi Y, Mitsui J, Ishiura H, Umemura A, Maruyama K, Matsushige T, Morishita S, Nakagawa M, Tsuji S, Takashima H.
    J Peripher Nerv Syst; 2017 Sep 01; 22(3):191-199. PubMed ID: 28660751
    [Abstract] [Full Text] [Related]

  • 39.
    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 Sep 01. PubMed ID: 20301432
    [Abstract] [Full Text] [Related]

  • 40. Mutations in SACS cause atypical and late-onset forms of ARSACS.
    Baets J, Deconinck T, Smets K, Goossens D, Van den Bergh P, Dahan K, Schmedding E, Santens P, Rasic VM, Van Damme P, Robberecht W, De Meirleir L, Michielsens B, Del-Favero J, Jordanova A, De Jonghe P.
    Neurology; 2010 Sep 28; 75(13):1181-8. PubMed ID: 20876471
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 10.