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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

451 related items for PubMed ID: 30572172

  • 21. Focal dystonia in a case of SYNE1 spastic-ataxia: Expanding the phenotypic spectrum.
    Holla VV, Surisetti BK, Prasad S, Pal PK.
    Parkinsonism Relat Disord; 2021 Jun; 87():22-24. PubMed ID: 33933852
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  • 22. Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
    Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botía JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I, SYNAPSE Study GroupSee Document S1 for list of collaborators., Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H.
    Am J Hum Genet; 2017 Jun 01; 100(6):969-977. PubMed ID: 28575651
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  • 24. Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.
    Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuk A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupré N, Suchowersky O, Bolduc FV, Parker JA, Dion PA, Drapeau P, Rouleau GA, Ouled Amar Bencheikh B.
    Am J Hum Genet; 2016 May 05; 98(5):1038-1046. PubMed ID: 27153400
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  • 25. Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases.
    Xia ZC, Liu ZH, Zhou XX, Liu Z, Wang JL, Hu ZM, Tan JQ, Shen L, Jiang H, Tang BS, Lei LF.
    J Neurol Sci; 2020 Apr 15; 411():116691. PubMed ID: 31982778
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  • 26. Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
    Thal DR, Züchner S, Gierer S, Schulte C, Schöls L, Schüle R, Synofzik M.
    Int J Mol Sci; 2015 Oct 21; 16(10):25050-66. PubMed ID: 26506339
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  • 28. Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.
    Lorea CF, Tenório RB, Koenig M, Huebner A, Koehler K, Devos D, Guissart C, Saute JAM.
    Cerebellum; 2020 Jun 21; 19(3):465-468. PubMed ID: 32146693
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  • 29. SYNE1-ataxia: Novel genotypic and phenotypic findings.
    Indelicato E, Nachbauer W, Fauth C, Krabichler B, Schossig A, Eigentler A, Dichtl W, Wenning G, Wagner M, Fanciulli A, Janecke A, Boesch S.
    Parkinsonism Relat Disord; 2019 May 21; 62():210-214. PubMed ID: 30573412
    [Abstract] [Full Text] [Related]

  • 30. A Diagnostic Approach to Spastic ataxia Syndromes.
    Pedroso JL, Vale TC, França Junior MC, Kauffman MA, Teive H, Barsottini OGP, Munhoz RP.
    Cerebellum; 2022 Dec 21; 21(6):1073-1084. PubMed ID: 34782953
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  • 32. VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis.
    Hausman-Kedem M, Ben-Shachar S, Menascu S, Geva K, Sagie L, Fattal-Valevski A.
    Neurogenetics; 2019 Oct 21; 20(4):187-195. PubMed ID: 31418091
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  • 33. Intrafamilial variable spastic paraplegia/ataxia/ALS phenotype linked to a novel KIF5A mutation.
    Faruq M, Kumar D, Wadhwa S, Shamim U, Mathur A, Parveen S, Garg A, Srivastava AK.
    Clin Genet; 2019 Sep 21; 96(3):271-273. PubMed ID: 31286494
    [No Abstract] [Full Text] [Related]

  • 34. Spastic ataxias.
    Bereznyakova O, Dupré N.
    Handb Clin Neurol; 2018 Sep 21; 155():191-203. PubMed ID: 29891058
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  • 35. Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.
    de Freitas JL, Rezende Filho FM, Sallum JMF, França MC, Pedroso JL, Barsottini OGP.
    J Neurol Sci; 2020 Feb 15; 409():116620. PubMed ID: 31865189
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  • 38. Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.
    Malekkou A, Samarani M, Drousiotou A, Votsi C, Sonnino S, Pantzaris M, Chiricozzi E, Zamba-Papanicolaou E, Aureli M, Loberto N, Christodoulou K.
    Int J Mol Sci; 2018 Oct 10; 19(10):. PubMed ID: 30308956
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  • 40. KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.
    Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, Gaussen M, Meyer V, Durr A, Brice A, Benomar A, Stevanin G, Schuelke M, Edvardson S.
    J Med Genet; 2014 Feb 10; 51(2):137-42. PubMed ID: 24319291
    [Abstract] [Full Text] [Related]

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