173 related articles for article (PubMed ID: 31020813)
1. Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.
Cassini TA; Duncan L; Rives LC; Newman JH; Phillips JA; Koziura ME; Brault J; Hamid R; Cogan J;
Mol Genet Genomic Med; 2019 Jun; 7(6):e00676. PubMed ID: 31020813
[TBL] [Abstract][Full Text] [Related]
2. Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.
Wagner JD; Huang L; Tetreault M; Majewski J; Boycott KM; Bulman DE; ; Dyment DA; McMillan HJ
Neuromuscul Disord; 2015 Oct; 25(10):794-9. PubMed ID: 26298607
[TBL] [Abstract][Full Text] [Related]
3. IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients.
Liu L; Li X; Hu Z; Mao X; Zi X; Xia K; Tang B; Zhang R
Neuromuscul Disord; 2017 Feb; 27(2):193-199. PubMed ID: 28065684
[TBL] [Abstract][Full Text] [Related]
4. Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
Taioli F; Cabrini I; Cavallaro T; Acler M; Fabrizi GM
Brain; 2011 Feb; 134(Pt 2):608-17. PubMed ID: 21252112
[TBL] [Abstract][Full Text] [Related]
5. WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.
Masingue M; Perrot J; Carlier RY; Piguet-Lacroix G; Latour P; Stojkovic T
Neurogenetics; 2018 May; 19(2):67-76. PubMed ID: 29396836
[TBL] [Abstract][Full Text] [Related]
6. Clinical and genetic features of Charcot-Marie-Tooth disease patients with IGHMBP2 mutations.
Lei L; Zhiqiang L; Xiaobo L; Zhengmao H; Shunxiang H; Huadong Z; Beisha T; Ruxu Z
Neuromuscul Disord; 2022 Jul; 32(7):564-571. PubMed ID: 35660062
[TBL] [Abstract][Full Text] [Related]
7. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Cottenie E; Kochanski A; Jordanova A; Bansagi B; Zimon M; Horga A; Jaunmuktane Z; Saveri P; Rasic VM; Baets J; Bartsakoulia M; Ploski R; Teterycz P; Nikolic M; Quinlivan R; Laura M; Sweeney MG; Taroni F; Lunn MP; Moroni I; Gonzalez M; Hanna MG; Bettencourt C; Chabrol E; Franke A; von Au K; Schilhabel M; Kabzińska D; Hausmanowa-Petrusewicz I; Brandner S; Lim SC; Song H; Choi BO; Horvath R; Chung KW; Zuchner S; Pareyson D; Harms M; Reilly MM; Houlden H
Am J Hum Genet; 2014 Nov; 95(5):590-601. PubMed ID: 25439726
[TBL] [Abstract][Full Text] [Related]
8. 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
[TBL] [Abstract][Full Text] [Related]
9. A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.
Grosz BR; Parmar JM; Ellis M; Bryen S; Simons C; Reis ALM; Stevanovski I; Deveson IW; Nicholson G; Laing N; Wallis M; Ravenscroft G; Kumar KR; Vucic S; Kennerson ML
J Peripher Nerv Syst; 2024 Jun; 29(2):262-274. PubMed ID: 38860315
[TBL] [Abstract][Full Text] [Related]
10. A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.
Pravinbabu P; Holla VV; Phulpagar P; Kamble N; Netravathi M; Yadav R; Pal PK; Muthusamy B
Neurol Sci; 2022 Jul; 43(7):4463-4472. PubMed ID: 35149926
[TBL] [Abstract][Full Text] [Related]
11. Genotype-phenotype correlations of AR-CMT2S in a cohort of axonal Charcot-Marie-Tooth patients from Central South China.
Liu L; Zeng S; Li X; Xie Y; Xu K; Yang H; Huang S; Zhao H; Zhang R
J Peripher Nerv Syst; 2024 Jun; 29(2):243-251. PubMed ID: 38772550
[TBL] [Abstract][Full Text] [Related]
12. Genetic epidemiology of Charcot-Marie-Tooth disease.
Braathen GJ
Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
[TBL] [Abstract][Full Text] [Related]
13. 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
[TBL] [Abstract][Full Text] [Related]
14. Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1.
Bodle EE; Zhu W; Velez-Bartolomei F; Tesi-Rocha A; Liu P; Bernstein JA
Pediatr Neurol; 2021 Jan; 114():16-20. PubMed ID: 33189025
[TBL] [Abstract][Full Text] [Related]
15. Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes.
Michaelidou K; Tsiverdis I; Erimaki S; Papadimitriou D; Amoiridis G; Papadimitriou A; Mitsias P; Zaganas I
Mol Genet Genomic Med; 2020 Apr; 8(4):e1141. PubMed ID: 32022442
[TBL] [Abstract][Full Text] [Related]
16. Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case.
Kulshrestha R; Forrester N; Antoniadi T; Willis T; Sethuraman SK; Samuels M
Neuromuscul Disord; 2018 Dec; 28(12):1016-1021. PubMed ID: 30409445
[TBL] [Abstract][Full Text] [Related]
17. Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease.
Flusser H; Halperin D; Kadir R; Shorer Z; Shelef I; Birk OS
Clin Genet; 2018 Nov; 94(5):473-479. PubMed ID: 30039846
[TBL] [Abstract][Full Text] [Related]
18. 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; 18(2-3):74-83. PubMed ID: 29587262
[TBL] [Abstract][Full Text] [Related]
19. Clinical diversity caused by novel IGHMBP2 variants.
Yuan JH; Hashiguchi A; Yoshimura A; Yaguchi H; Tsuzaki K; Ikeda A; Wada-Isoe K; Ando M; Nakamura T; Higuchi Y; Hiramatsu Y; Okamoto Y; Takashima H
J Hum Genet; 2017 Jun; 62(6):599-604. PubMed ID: 28202949
[TBL] [Abstract][Full Text] [Related]
20. Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
Mortreux J; Bacquet J; Boyer A; Alazard E; Bellance R; Giguet-Valard AG; Cerino M; Krahn M; Audic F; Chabrol B; Laugel V; Desvignes JP; Béroud C; Nguyen K; Verschueren A; Lévy N; Attarian S; Delague V; Missirian C; Bonello-Palot N
J Hum Genet; 2020 Mar; 65(3):313-323. PubMed ID: 31852984
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
