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Journal Abstract Search

402 related items for PubMed ID: 32860341

  • 21. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
    Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S, PREPARE Consortium, Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J.
    Mov Disord; 2022 Jun; 37(6):1175-1186. PubMed ID: 35150594
    [Abstract] [Full Text] [Related]

  • 22. A novel GBA2 gene missense mutation in spastic ataxia.
    Votsi C, Zamba-Papanicolaou E, Middleton LT, Pantzaris M, Christodoulou K.
    Ann Hum Genet; 2014 Jan; 78(1):13-22. PubMed ID: 24252062
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  • 25. Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families.
    Azeem A, Ahmed AN, Khan N, Voutsina N, Ullah I, Ubeyratna N, Yasin M, Baple EL, Crosby AH, Rawlins LE, Saleha S.
    BMC Neurol; 2024 Sep 20; 24(1):354. PubMed ID: 39304850
    [Abstract] [Full Text] [Related]

  • 26. Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.
    Chen J, Zhao Z, Shen H, Bing Q, Li N, Guo X, Hu J.
    BMC Neurol; 2022 May 16; 22(1):180. PubMed ID: 35578252
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  • 27. Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
    Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK, Genomics England Research Consortium, Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H.
    Genet Med; 2022 Oct 16; 24(10):2079-2090. PubMed ID: 35986737
    [Abstract] [Full Text] [Related]

  • 28. Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.
    Kim A, Kumar KR, Davis RL, Mallawaarachchi AC, Gayevskiy V, Minoche AE, Walls Z, Kim HJ, Jang M, Cowley MJ, Choi JH, Shin C, Sue CM, Jeon B.
    Cerebellum; 2019 Aug 16; 18(4):781-790. PubMed ID: 31104286
    [Abstract] [Full Text] [Related]

  • 29. Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.
    Nielsen JE, Johnsen B, Koefoed P, Scheuer KH, Grønbech-Jensen M, Law I, Krabbe K, Nørremølle A, Eiberg H, Søndergård H, Dam M, Rehfeld JF, Krarup C, Paulson OB, Hasholt L, Sørensen SA.
    Eur J Neurol; 2004 Dec 16; 11(12):817-24. PubMed ID: 15667412
    [Abstract] [Full Text] [Related]

  • 30. Hereditary spastic paraplegia: new insights into clinical variability and spasticity-ataxia phenotype, and novel mutations.
    Sahin I, Saat H.
    Acta Neurol Belg; 2022 Dec 16; 122(6):1529-1535. PubMed ID: 34420199
    [Abstract] [Full Text] [Related]

  • 31. POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
    Di Donato I, Gallo A, Ricca I, Fini N, Silvestri G, Gurrieri F, Cirillo M, Cerase A, Natale G, Matrone F, Riso V, Melone MAB, Tessa A, De Michele G, Federico A, Filla A, Dotti MT, Santorelli FM.
    Neurol Sci; 2022 Feb 16; 43(2):1071-1077. PubMed ID: 34296356
    [Abstract] [Full Text] [Related]

  • 32. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
    Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schöls L, Lima-Martínez MM, Farooq A, Schüle R, Stevanin G, Marques W, Züchner S.
    Brain; 2014 Jan 16; 137(Pt 1):69-77. PubMed ID: 24355708
    [Abstract] [Full Text] [Related]

  • 33. A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.
    Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B.
    Brain; 2006 Sep 16; 129(Pt 9):2332-40. PubMed ID: 16672289
    [Abstract] [Full Text] [Related]

  • 34. SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group.
    Pedroso JL, de Souza PV, Pinto WB, Braga-Neto P, Albuquerque MV, Saraiva-Pereira ML, Jardim LB, Barsottini OG.
    Parkinsonism Relat Disord; 2015 Oct 16; 21(10):1243-6. PubMed ID: 26231471
    [Abstract] [Full Text] [Related]

  • 35. Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
    Zhang X, Zhang L, Wu Y, Li G, Chen S, Xia Y, Li H.
    BMC Neurol; 2018 Nov 29; 18(1):196. PubMed ID: 30497413
    [Abstract] [Full Text] [Related]

  • 36. Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.
    Koh K, Ishiura H, Beppu M, Shimazaki H, Ichinose Y, Mitsui J, Kuwabara S, Tsuji S, Takiyama Y, Japan Spastic Paraplegia Research Consortium.
    J Hum Genet; 2018 Sep 29; 63(9):1009-1013. PubMed ID: 29915212
    [Abstract] [Full Text] [Related]

  • 37. A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
    Torella A, Ricca I, Piluso G, Galatolo D, De Michele G, Zanobio M, Trovato R, De Michele G, Zeuli R, Pane C, Cocozza S, Saccà F, Santorelli FM, Nigro V, Filla A.
    J Neurol; 2023 Oct 29; 270(10):5057-5063. PubMed ID: 37418012
    [Abstract] [Full Text] [Related]

  • 38. White matter abnormalities in 15 subjects with SPG76.
    Alkhalifa A, Chen S, Hasiloglu ZI, Filosto M, Cali E, Houlden H, Sgobbi de Souza P, Alavi A, Goizet C, Stevanin G, Taithe F, Nicita F, Vasco G, Tozza S, Cocozza S, Carboni N, Figus A, Wu J, Basak AN, Brais B, Rouleau G, La Piana R.
    J Neurol; 2023 Dec 29; 270(12):5784-5792. PubMed ID: 37578488
    [Abstract] [Full Text] [Related]

  • 39. 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 29; 21(6):1073-1084. PubMed ID: 34782953
    [Abstract] [Full Text] [Related]

  • 40. A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
    Rydning SL, Wedding IM, Koht J, Chawla M, Øye AM, Sheng Y, Vigeland MD, Selmer KK, Tallaksen CM.
    Eur J Neurol; 2016 Apr 29; 23(4):763-71. PubMed ID: 26756429
    [Abstract] [Full Text] [Related]

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