151 related articles for article (PubMed ID: 30992180)
1. Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family.
Ikenberg E; Reilich P; Abicht A; Heller C; Schoser B; Walter MC
Neuromuscul Disord; 2019 May; 29(5):392-397. PubMed ID: 30992180
[TBL] [Abstract][Full Text] [Related]
2. Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3' UTR in NEFH.
Nam DE; Jung SC; Yoo DH; Choi SS; Seo SY; Kim GH; Kim SJ; Nam SH; Choi BO; Chung KW
J Peripher Nerv Syst; 2017 Sep; 22(3):200-207. PubMed ID: 28544463
[TBL] [Abstract][Full Text] [Related]
3. Charcot-Marie-Tooth disease type 2CC due to
Pipis M; Cortese A; Polke JM; Poh R; Vandrovcova J; Laura M; Skorupinska M; Jacquier A; Juntas-Morales R; Latour P; Petiot P; Sole G; Fromes Y; Shah S; Blake J; Choi BO; Chung KW; Stojkovic T; Rossor AM; Reilly MM
J Neurol Neurosurg Psychiatry; 2022 Jan; 93(1):48-56. PubMed ID: 34518334
[TBL] [Abstract][Full Text] [Related]
4. Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFH.
Aruta F; Severi D; Iovino A; Spina E; Barghigiani M; Ruggiero L; Iodice R; Santorelli FM; Manganelli F; Tozza S
J Peripher Nerv Syst; 2021 Jun; 26(2):231-234. PubMed ID: 33987933
[TBL] [Abstract][Full Text] [Related]
5. Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death.
Jacquier A; Delorme C; Belotti E; Juntas-Morales R; Solé G; Dubourg O; Giroux M; Maurage CA; Castellani V; Rebelo A; Abrams A; Züchner S; Stojkovic T; Schaeffer L; Latour P
Acta Neuropathol Commun; 2017 Jul; 5(1):55. PubMed ID: 28709447
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
Berciano J; Peeters K; García A; López-Alburquerque T; Gallardo E; Hernández-Fabián A; Pelayo-Negro AL; De Vriendt E; Infante J; Jordanova A
J Neurol; 2016 Feb; 263(2):361-369. PubMed ID: 26645395
[TBL] [Abstract][Full Text] [Related]
8. An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.
Ando M; Higuchi Y; Okamoto Y; Yuan J; Yoshimura A; Takei J; Taniguchi T; Hiramatsu Y; Sakiyama Y; Hashiguchi A; Matsuura E; Nakagawa H; Sonoda K; Yamashita T; Tamura A; Terasawa H; Mitsui J; Ishiura H; Tsuji S; Takashima H
J Hum Genet; 2022 Jul; 67(7):399-403. PubMed ID: 35091664
[TBL] [Abstract][Full Text] [Related]
9. The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.
Züchner S; Vorgerd M; Sindern E; Schröder JM
Neuromuscul Disord; 2004 Feb; 14(2):147-57. PubMed ID: 14733962
[TBL] [Abstract][Full Text] [Related]
10. A novel missense pathogenic variant in NEFH causing rare Charcot-Marie-Tooth neuropathy type 2CC.
Yan J; Qiao L; Peng H; Liu A; Wu J; Huang J
Neurol Sci; 2021 Feb; 42(2):757-763. PubMed ID: 32780247
[TBL] [Abstract][Full Text] [Related]
11. Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E.
Elbracht M; Senderek J; Schara U; Nolte K; Klopstock T; Roos A; Reimann J; Zerres K; Weis J; Rudnik-Schöneborn S
Clin Neuropathol; 2014; 33(5):335-43. PubMed ID: 24887401
[TBL] [Abstract][Full Text] [Related]
12. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Miltenberger-Miltenyi G; Janecke AR; Wanschitz JV; Timmerman V; Windpassinger C; Auer-Grumbach M; Löscher WN
Arch Neurol; 2007 Jul; 64(7):966-70. PubMed ID: 17620486
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot-Marie-Tooth disease.
Fu J; Yuan Y
Neuromuscul Disord; 2018 Jan; 28(1):44-47. PubMed ID: 29191368
[TBL] [Abstract][Full Text] [Related]
15. Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.
Doppler K; Kunstmann E; Krüger S; Sommer C
Muscle Nerve; 2017 May; 55(5):752-755. PubMed ID: 27649278
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport.
Pérez-Ollé R; López-Toledano MA; Goryunov D; Cabrera-Poch N; Stefanis L; Brown K; Liem RK
J Neurochem; 2005 May; 93(4):861-74. PubMed ID: 15857389
[TBL] [Abstract][Full Text] [Related]
18. Muscle spindle alterations precede onset of sensorimotor deficits in Charcot-Marie-Tooth type 2E.
Villalón E; Jones MR; Sibigtroth C; Zino SJ; Dale JM; Landayan DS; Shen H; Cornelison DD; Garcia ML
Genes Brain Behav; 2017 Feb; 16(2):260-270. PubMed ID: 27643807
[TBL] [Abstract][Full Text] [Related]
19. Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot-Marie-Tooth disease type 2K.
Fu J; Dai S; Lu Y; Wu R; Wang Z; Yuan Y; Lv H
Neuromuscul Disord; 2017 Aug; 27(8):760-765. PubMed ID: 28495047
[TBL] [Abstract][Full Text] [Related]
20. Genetic and clinical characteristics of
Horga A; Laurà M; Jaunmuktane Z; Jerath NU; Gonzalez MA; Polke JM; Poh R; Blake JC; Liu YT; Wiethoff S; Bettencourt C; Lunn MP; Manji H; Hanna MG; Houlden H; Brandner S; Züchner S; Shy M; Reilly MM
J Neurol Neurosurg Psychiatry; 2017 Jul; 88(7):575-585. PubMed ID: 28501821
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
