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Journal Abstract Search

157 related items for PubMed ID: 36260368

  • 1. Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
    Cipriani S, Guerrero-Valero M, Tozza S, Zhao E, Vollmer V, Beijer D, Danzi M, Rivellini C, Lazarevic D, Pipitone GB, Grosz BR, Lamperti C, Marzoli SB, Carrera P, Devoto M, Pisciotta C, Pareyson D, Kennerson M, Previtali SC, Zuchner S, Scherer SS, Manganelli F, Bähler M, Bolino A.
    Eur J Neurol; 2023 Feb; 30(2):511-526. PubMed ID: 36260368
    [Abstract] [Full Text] [Related]

  • 2. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
    De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N.
    Am J Hum Genet; 2002 Mar; 70(3):726-36. PubMed ID: 11799477
    [Abstract] [Full Text] [Related]

  • 3. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ.
    Acta Neurol Scand Suppl; 2012 Mar; (193):iv-22. PubMed ID: 23106488
    [Abstract] [Full Text] [Related]

  • 4. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
    Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F, Espinós C.
    Brain; 2016 Jan; 139(Pt 1):62-72. PubMed ID: 26497905
    [Abstract] [Full Text] [Related]

  • 5. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
    Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A.
    Brain; 2016 Jan; 139(Pt 1):73-85. PubMed ID: 26556829
    [Abstract] [Full Text] [Related]

  • 6. Expanding the spectrum of genes responsible for hereditary motor neuropathies.
    Previtali SC, Zhao E, Lazarevic D, Pipitone GB, Fabrizi GM, Manganelli F, Mazzeo A, Pareyson D, Schenone A, Taroni F, Vita G, Bellone E, Ferrarini M, Garibaldi M, Magri S, Padua L, Pennisi E, Pisciotta C, Riva N, Scaioli V, Scarlato M, Tozza S, Geroldi A, Jordanova A, Ferrari M, Molineris I, Reilly MM, Comi G, Carrera P, Devoto M, Bolino A.
    J Neurol Neurosurg Psychiatry; 2019 Oct; 90(10):1171-1179. PubMed ID: 31167812
    [Abstract] [Full Text] [Related]

  • 7. Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.
    Ylikallio E, Johari M, Konovalova S, Moilanen JS, Kiuru-Enari S, Auranen M, Pajunen L, Tyynismaa H.
    Eur J Hum Genet; 2014 Apr; 22(4):522-7. PubMed ID: 23963299
    [Abstract] [Full Text] [Related]

  • 8. 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; 22(3):191-199. PubMed ID: 28660751
    [Abstract] [Full Text] [Related]

  • 9. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
    Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Hölker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B.
    Am J Hum Genet; 2020 Oct 01; 107(4):763-777. PubMed ID: 32937143
    [Abstract] [Full Text] [Related]

  • 10. Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2.
    Bian X, Lin P, Li J, Long F, Duan R, Yuan Q, Li Y, Gao F, Gao S, Wei S, Li X, Sun W, Gong Y, Yan C, Liu Q.
    Neurodegener Dis; 2018 Oct 01; 18(2-3):74-83. PubMed ID: 29587262
    [Abstract] [Full Text] [Related]

  • 11. Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
    Berciano J, García A, Gallardo E, Peeters K, Pelayo-Negro AL, Álvarez-Paradelo S, Gazulla J, Martínez-Tames M, Infante J, Jordanova A.
    J Neurol; 2017 Aug 01; 264(8):1655-1677. PubMed ID: 28364294
    [Abstract] [Full Text] [Related]

  • 12. Characterization of genotype-phenotype correlation with MORC2 mutated Axonal Charcot-Marie-Tooth disease in a cohort of Chinese patients.
    Duan X, Liu X, Wang G, Gu W, Xu M, Hao Y, Dong M, Sun Q, Sun S, Chen Y, Wang W, Li J, Zhang Y, Cao Z, Fan D, Wang R, Da Y.
    Orphanet J Rare Dis; 2021 May 31; 16(1):244. PubMed ID: 34059105
    [Abstract] [Full Text] [Related]

  • 13. Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
    Taioli F, Cabrini I, Cavallaro T, Acler M, Fabrizi GM.
    Brain; 2011 Feb 31; 134(Pt 2):608-17. PubMed ID: 21252112
    [Abstract] [Full Text] [Related]

  • 14. Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.
    Yoshimura A, Yuan JH, Hashiguchi A, Hiramatsu Y, Ando M, Higuchi Y, Nakamura T, Okamoto Y, Matsumura K, Hamano T, Sawaura N, Shimatani Y, Kumada S, Okumura Y, Miyahara J, Yamaguchi Y, Kitamura S, Haginoya K, Mitsui J, Ishiura H, Tsuji S, Takashima H.
    Clin Genet; 2017 Sep 31; 92(3):274-280. PubMed ID: 28244113
    [Abstract] [Full Text] [Related]

  • 15. Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth disease.
    Magri S, Danti FR, Balistreri F, Baratta S, Ciano C, Pagliano E, Taroni F, Moroni I.
    J Peripher Nerv Syst; 2020 Dec 31; 25(4):429-432. PubMed ID: 32815244
    [Abstract] [Full Text] [Related]

  • 16. A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene.
    Tozza S, Magri S, Pennisi EM, Schirinzi E, Pisciotta C, Balistreri F, Severi D, Ricci G, Siciliano G, Taroni F, Santoro L, Manganelli F.
    J Peripher Nerv Syst; 2019 Jun 31; 24(2):219-223. PubMed ID: 30843326
    [Abstract] [Full Text] [Related]

  • 17. DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.
    Hong YB, Kang J, Kim JH, Lee J, Kwak G, Hyun YS, Nam SH, Hong HD, Choi YR, Jung SC, Koo H, Lee JE, Choi BO, Chung KW.
    Hum Mutat; 2016 May 31; 37(5):473-80. PubMed ID: 26786738
    [Abstract] [Full Text] [Related]

  • 18. Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.
    Khani M, Taheri H, Shamshiri H, Moazzeni H, Hardy J, Bras JT, InanlooRahatloo K, Alavi A, Nafissi S, Elahi E.
    J Neurol; 2021 Feb 31; 268(2):640-650. PubMed ID: 32897397
    [Abstract] [Full Text] [Related]

  • 19. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
    Claeys KG, Züchner S, Kennerson M, Berciano J, Garcia A, Verhoeven K, Storey E, Merory JR, Bienfait HM, Lammens M, Nelis E, Baets J, De Vriendt E, Berneman ZN, De Veuster I, Vance JM, Nicholson G, Timmerman V, De Jonghe P.
    Brain; 2009 Jul 31; 132(Pt 7):1741-52. PubMed ID: 19502294
    [Abstract] [Full Text] [Related]

  • 20. SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.
    Manole A, Horga A, Gamez J, Raguer N, Salvado M, San Millán B, Navarro C, Pittmann A, Reilly MM, Houlden H.
    Neurogenetics; 2017 Jan 31; 18(1):63-67. PubMed ID: 28005197
    [Abstract] [Full Text] [Related]

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