PubMed for id: 381352

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15099588,32504494,31453851,30039206,26556829,19290556,17347251,12481988,11112660,20301462,38626530,38507752,38439593,38406380,38330802,38277988,37932750,37880116,37767851,37709208,37620092,37462082,37416774,37349768,37263801,37154411,37095481,37086482,37045466,36918063,36912213,36866531,36833258,36646944,36599231,36573955,36542484,36445400,36367250,36360174,36317462,36314052,36283405,36260368,36155026,36096339,35942667,35938454,35892334,35885985,35882622,35767146,35764747,35731353,35676594,35603692,35578252,35501818,35332675,35313342,35286755,35235001,35212467,35149926,35084689,35074613,35066644,35026838,34999962,34889507,34695041,34694653,34620845,34602496,34592985,34585293,34526651,34480178,34368935,34139237,34114613,34002422,33903021,33875678,33845123,33781010,33772159,33744096,33663550,33652783,33559681,33528728,33517539,33439395,33415332,33352696,33323309,33275839,33216037,33188503,33144514,33141444,33044027,33011895,32970693,32949214,32897397,32896048,32879996,32864185,32769066,32750061,32575532,32566668,32444983,32375900,32319184,32259893,32222928,32169097,32099069,32004679,31915829,31877298,31796088,31760652,31723605,31655922,31607425,31596031,31515523,31439721,31400136,31385551,31187503,31182267,31179332,31167812,31088288,31079202,30778901,30460542,30458563,30415211,30391088,30298599,30119932,30010796,30006059,30001929,29902268,29876741,29859652,29749055,29726929,29655802,29524657,29396836,29372391,29358615,29356829,29321670,29321516,29215088,29191368,29107646,29088354,29066004,28991683,28855494,28838288,28787085,28495047,28387217,28364294,28347615,28300918,28244113,28215760,28132977,28107443,28099929,28005197,27891608,27852232,27749956,27743887,27717189,27693510,27676246,27638887,27638584,27544499,27230853,27230413,27178001,27162350,27150940,27078024,26991897,26955893,26848201,26821934,26805434,26764296,26760849,26686676,26602803,26525999,26506339,26437932,26306937,26298607,26285866,26284655,26194197,26182879,26168012,26115766,26114802,26018082,26004199,25847151,25817015,25704603,25609251,25544507,25533284,25504045,25492866,25454638,25398950,25388615,25342199,25337607,25253658,25187576,25152455,24989667,24958874,24957499,24957169,24954637,24894446,24833716,24794856,24691552,24676440,24632473,24623383,24581871,24569606,24516392,24486887,24473200,24314034,24273072,24252552,24209434,24198383,24123118,24094759,23953109,23938035,23931822,23931819,23931818,23928520,23844677,23810770,23786967,23781959,23658157,23622380,23598833,23553667,23500070,23466821,23436002,23332916,23332420,23250602,23248352,23196619,23153686,23111195,23034915,22983956,22961002,22847626,22842231,22815638,22781092,22776096,22768177,22734908,22703880,22689534,22574173,22573508,22563492,22546700,22461884,22441213,22411234,22301809,22257990,22179783,22046428,22028665,22028385,22027213,22012984,21956898,21856732,21820098,21753178,21715711,21696388,21559443,21529868,21526202,21365284,21356581,21327736,21273291,21199105,21088113,21086197,20949505,20929675,20865121,20849849,20797691,20727515,20718791,20695019,20687496,20661613,20653033,20571287,20549748,20500450,20163430,20109528,20054783,20039949,20008656,20007460,20004763,19942244,19915464,19877753,19826499,19825739,19744353,19651702,19650351,19581584,19500985,19472223,19424285,19409425,19381883,19364063,19344448,19224311,19218615,19211312,19157208,19141356,19138334,19135335,18991200,18981035,18980795,18832141,18785627,18701682,18698610,18629520,18628786,18625865,18595793,18549403,18521183,18500759,18465152,18440926,18439928,18343091,18318003,18257469,18231710,18195151,18175081,18094336,18067136,18062449,18031467,17984592,17963182,17874344,17868079,17727637,17701904,17683097,17683082,17661726,17661097,17587580,17578852,17572665,17572444,17560790,17552452,17536044,17442057,17433678,17432174,17410579,17294068,17261814,17220882,17197623,17092472,17039978,17013586,17001820,16962235,16924012,16802286,16775372,16775368,16775366,16647881,16550933,16541790,16512846,16437560,16437557,16343542,16333315,16315274,16303566,16183296,16162938,16137181,16135556,16119880,16106622,16052206,16032995,15996403,15944907,15892292,15865282,15852396,15804048,15800456,15794183,15772096,15719054,15696785,15651351,15480834,15377708,15358725,15324608,15282162,15217094,15184631,15103691,15080965,15034475,15019704,14770181,14732628,14722615,14718689,14714215,14607793,14593639,14580665,14574644,14561495,14506070,12952942,12921235,12901697,12873855,12868504,12837694,12821518,12707075,12662317,12661946,12601710,12566285,12515823[uid]

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Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3.

Berghoff C, Berghoff M, Leal A, Morera B, Barrantes R, Reis A, Neundörfer B, Rautenstrauss B, Del Valle G, Heuss D. Berghoff C, et al. Neuromuscul Disord. 2004 May;14(5):301-6. doi: 10.1016/j.nmd.2004.02.004. Neuromuscul Disord. 2004. PMID: 15099588

Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair.

Kalasova I, Hailstone R, Bublitz J, Bogantes J, Hofmann W, Leal A, Hanzlikova H, Caldecott KW. Kalasova I, et al. Nucleic Acids Res. 2020 Jul 9;48(12):6672-6684. doi: 10.1093/nar/gkaa489. Nucleic Acids Res. 2020. PMID: 32504494 Free PMC article.

Novel MFN2 Missense Mutation Induces Hereditary Axonal Motor and Sensory Neuropathy in a Saudi Arabian Family.

Al-Harbi TM, Abdulmana SO, Bashir S, Dridi W. Al-Harbi TM, et al. J Clin Neuromuscul Dis. 2019 Sep;21(1):25-29. doi: 10.1097/CND.0000000000000244. J Clin Neuromuscul Dis. 2019. PMID: 31453851

The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25.

Leal A, Bogantes-Ledezma S, Ekici AB, Uebe S, Thiel CT, Sticht H, Berghoff M, Berghoff C, Morera B, Meisterernst M, Reis A. Leal A, et al. Neurogenetics. 2018 Dec;19(4):215-225. doi: 10.1007/s10048-018-0555-7. Epub 2018 Jul 24. Neurogenetics. 2018. PMID: 30039206 Free PMC article.

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. Montecchiani C, et al. Brain. 2016 Jan;139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10. Brain. 2016. PMID: 26556829 Free PMC article.

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.

Leal A, Huehne K, Bauer F, Sticht H, Berger P, Suter U, Morera B, Del Valle G, Lupski JR, Ekici A, Pasutto F, Endele S, Barrantes R, Berghoff C, Berghoff M, Neundörfer B, Heuss D, Dorn T, Young P, Santolin L, Uhlmann T, Meisterernst M, Sereda MW, Sereda M, Stassart RM, Meyer zu Horste G, Nave KA, Reis A, Rautenstrauss B. Leal A, et al. Neurogenetics. 2009 Oct;10(4):275-87. doi: 10.1007/s10048-009-0183-3. Epub 2009 Mar 17. Neurogenetics. 2009. PMID: 19290556 Free PMC article.

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E. Bouhouche A, et al. Brain. 2007 Apr;130(Pt 4):1062-75. doi: 10.1093/brain/awm014. Epub 2007 Mar 8. Brain. 2007. PMID: 17347251

A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.

Georgiou DM, Zidar J, Korosec M, Middleton LT, Kyriakides T, Christodoulou K. Georgiou DM, et al. Neurogenetics. 2002 Oct;4(2):93-6. doi: 10.1007/s10048-002-0138-4. Neurogenetics. 2002. PMID: 12481988

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

Leal A, Morera B, Del Valle G, Heuss D, Kayser C, Berghoff M, Villegas R, Hernández E, Méndez M, Hennies HC, Neundörfer B, Barrantes R, Reis A, Rautenstrauss B. Leal A, et al. Am J Hum Genet. 2001 Jan;68(1):269-74. doi: 10.1086/316934. Epub 2000 Dec 7. Am J Hum Genet. 2001. PMID: 11112660 Free PMC article.

Charcot-Marie-Tooth Neuropathy Type 2 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.

Bird TD. Bird TD. 1998 Sep 24 [updated 2016 Apr 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1998 Sep 24 [updated 2016 Apr 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301462 Free Books & Documents. Review.

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