161 related articles for article (PubMed ID: 36947133)
1. Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
Rehbein T; Wu TT; Treidler S; Pareyson D; Lewis R; Yum SW; McCray BA; Ramchandren S; Burns J; Li J; Finkel RS; Scherer SS; Zuchner S; Shy ME; Reilly MM; Herrmann DN
Brain; 2023 Sep; 146(9):3826-3835. PubMed ID: 36947133
[TBL] [Abstract][Full Text] [Related]
2. [The application of scales and characteristics of disability in the common genotypes of Charcot-Marie-Tooth disease].
Liu X; Zhang RX; Liu L; Xie YZ; Lin ZQ; Zhao Q; Cao WQ; Zhu XY; Li XB
Zhonghua Yi Xue Za Zhi; 2021 Jan; 101(2):131-136. PubMed ID: 33455129
[No Abstract] [Full Text] [Related]
3. Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Fridman V; Sillau S; Bockhorst J; Smith K; Moroni I; Pagliano E; Pisciotta C; Piscosquito G; Laurá M; Muntoni F; Bacon C; Feely S; Grider T; Gutmann L; Shy R; Wilcox J; Herrmann DN; Li J; Ramchandren S; Sumner CJ; Lloyd TE; Day J; Siskind CE; Yum SW; Sadjadi R; Finkel RS; Scherer SS; Pareyson D; Reilly MM; Shy ME;
Ann Neurol; 2023 Mar; 93(3):563-576. PubMed ID: 36203352
[TBL] [Abstract][Full Text] [Related]
4. A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.
Fridman V; Sillau S; Acsadi G; Bacon C; Dooley K; Burns J; Day J; Feely S; Finkel RS; Grider T; Gutmann L; Herrmann DN; Kirk CA; Knause SA; Laurá M; Lewis RA; Li J; Lloyd TE; Moroni I; Muntoni F; Pagliano E; Pisciotta C; Piscosquito G; Ramchandren S; Saporta M; Sadjadi R; Shy RR; Siskind CE; Sumner CJ; Walk D; Wilcox J; Yum SW; Züchner S; Scherer SS; Pareyson D; Reilly MM; Shy ME;
Neurology; 2020 Mar; 94(9):e884-e896. PubMed ID: 32047073
[TBL] [Abstract][Full Text] [Related]
5. Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
Piscosquito G; Saveri P; Magri S; Ciano C; Gandioli C; Morbin M; Bella DD; Moroni I; Taroni F; Pareyson D
J Peripher Nerv Syst; 2016 Sep; 21(3):142-9. PubMed ID: 27231023
[TBL] [Abstract][Full Text] [Related]
6. The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy.
Houlden H; Laura M; Ginsberg L; Jungbluth H; Robb SA; Blake J; Robinson S; King RH; Reilly MM
Neuromuscul Disord; 2009 Apr; 19(4):264-9. PubMed ID: 19272779
[TBL] [Abstract][Full Text] [Related]
7. Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
Sanmaneechai O; Feely S; Scherer SS; Herrmann DN; Burns J; Muntoni F; Li J; Siskind CE; Day JW; Laura M; Sumner CJ; Lloyd TE; Ramchandren S; Shy RR; Grider T; Bacon C; Finkel RS; Yum SW; Moroni I; Piscosquito G; Pareyson D; Reilly MM; Shy ME;
Brain; 2015 Nov; 138(Pt 11):3180-92. PubMed ID: 26310628
[TBL] [Abstract][Full Text] [Related]
8. Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ; Skorupinska M; Laura M; Rossor AM; Pareyson D; Pisciotta C; Feely SME; Lloyd TE; Horvath R; Sadjadi R; Herrmann DN; Li J; Walk D; Yum SW; Lewis RA; Day J; Burns J; Finkel RS; Saporta MA; Ramchandren S; Weiss MD; Acsadi G; Fridman V; Muntoni F; Poh R; Polke JM; Zuchner S; Shy ME; Scherer SS; Reilly MM;
Brain; 2023 Oct; 146(10):4336-4349. PubMed ID: 37284795
[TBL] [Abstract][Full Text] [Related]
9. Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M; Feely SME; Polke JM; Skorupinska M; Perez L; Shy RR; Laura M; Morrow JM; Moroni I; Pisciotta C; Taroni F; Vujovic D; Lloyd TE; Acsadi G; Yum SW; Lewis RA; Finkel RS; Herrmann DN; Day JW; Li J; Saporta M; Sadjadi R; Walk D; Burns J; Muntoni F; Ramchandren S; Horvath R; Johnson NE; Züchner S; Pareyson D; Scherer SS; Rossor AM; Shy ME; Reilly MM;
Brain; 2020 Dec; 143(12):3589-3602. PubMed ID: 33415332
[TBL] [Abstract][Full Text] [Related]
10. Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.
Lerat J; Magdelaine C; Lunati A; Dzugan H; Dejoie C; Rego M; Beze Beyrie P; Bieth E; Calvas P; Cintas P; Delaubrier A; Demurger F; Gilbert-Dussardier B; Goizet C; Journel H; Laffargue F; Magy L; Taithe F; Toutain A; Urtizberea JA; Sturtz F; Lia AS
J Neurol Sci; 2019 Nov; 406():116376. PubMed ID: 31634715
[TBL] [Abstract][Full Text] [Related]
11. Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients.
Sun B; He ZQ; Li YR; Bai JM; Wang HR; Wang HF; Cui F; Yang F; Huang XS
Acta Neurol Belg; 2022 Oct; 122(5):1169-1175. PubMed ID: 33587240
[TBL] [Abstract][Full Text] [Related]
12. Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.
Ichikawa K; Numasawa K; Takeshita S; Hashiguchi A; Takashima H
Pediatr Int; 2016 Nov; 58(11):1252-1254. PubMed ID: 27882734
[TBL] [Abstract][Full Text] [Related]
13. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.
Azzedine H; Ravisé N; Verny C; Gabrëels-Festen A; Lammens M; Grid D; Vallat JM; Durosier G; Senderek J; Nouioua S; Hamadouche T; Bouhouche A; Guilbot A; Stendel C; Ruberg M; Brice A; Birouk N; Dubourg O; Tazir M; LeGuern E
Neurology; 2006 Aug; 67(4):602-6. PubMed ID: 16924012
[TBL] [Abstract][Full Text] [Related]
14. Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.
Jerath NU; Mankodi A; Crawford TO; Grunseich C; Baloui H; Nnamdi-Emeratom C; Schindler AB; Heiman-Patterson T; Chrast R; Shy ME
Muscle Nerve; 2018 May; 57(5):749-755. PubMed ID: 28981955
[TBL] [Abstract][Full Text] [Related]
15. Genetic Landscape of
Shchagina O; Murtazina A; Chausova P; Orlova M; Dadali E; Kurbatov S; Kutsev S; Polyakov A
Front Genet; 2024; 15():1381915. PubMed ID: 38903759
[TBL] [Abstract][Full Text] [Related]
16. Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients.
Lee AJ; Nam SH; Park JM; Kanwal S; Choi YJ; Lee HJ; Lee KS; Lee JE; Park JS; Choi BO; Chung KW
J Hum Genet; 2019 Sep; 64(9):961-965. PubMed ID: 31227790
[TBL] [Abstract][Full Text] [Related]
17. SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
Arnaud E; Zenker J; de Preux Charles AS; Stendel C; Roos A; Médard JJ; Tricaud N; Kleine H; Luscher B; Weis J; Suter U; Senderek J; Chrast R
Proc Natl Acad Sci U S A; 2009 Oct; 106(41):17528-33. PubMed ID: 19805030
[TBL] [Abstract][Full Text] [Related]
18. Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.
Yuan JH; Hashiguchi A; Okamoto Y; Yoshimura A; Ando M; Shiomi K; Saito K; Takahashi M; Ichinose K; Ohmichi T; Ichikawa K; Tadashi A; Takigawa H; Shibayama H; Takashima H
J Hum Genet; 2018 Mar; 63(3):281-287. PubMed ID: 29321516
[TBL] [Abstract][Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
