These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
158 related articles for article (PubMed ID: 34118926)
1. Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction. Berti B; Longo G; Mari F; Doccini S; Piccolo I; Donati MA; Moro F; Guerrini R; Santorelli FM; Petruzzella V BMC Med Genomics; 2021 Jun; 14(1):157. PubMed ID: 34118926 [TBL] [Abstract][Full Text] [Related]
2. Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3. Maria Turco E; Maria Giada Giovenale A; Rotundo G; Mazzoni M; Zanfardino P; Frezza K; Torrente I; Mary Carletti R; Damiani D; Santorelli FM; Luigi Vescovi A; Petruzzella V; Rosati J Stem Cell Res; 2022 Dec; 65():102946. PubMed ID: 36272304 [TBL] [Abstract][Full Text] [Related]
3. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Azzedine H; Bolino A; Taïeb T; Birouk N; Di Duca M; Bouhouche A; Benamou S; Mrabet A; Hammadouche T; Chkili T; Gouider R; Ravazzolo R; Brice A; Laporte J; LeGuern E Am J Hum Genet; 2003 May; 72(5):1141-53. PubMed ID: 12687498 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. Nakhro K; Park JM; Hong YB; Park JH; Nam SH; Yoon BR; Yoo JH; Koo H; Jung SC; Kim HL; Kim JY; Choi KG; Choi BO; Chung KW Neurology; 2013 Jul; 81(2):165-73. PubMed ID: 23749797 [TBL] [Abstract][Full Text] [Related]
6. Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination. Mammel AE; Delgado KC; Chin AL; Condon AF; Hill JQ; Aicher SA; Wang Y; Fedorov LM; Robinson FL Hum Mol Genet; 2022 Apr; 31(8):1216-1229. PubMed ID: 34718573 [TBL] [Abstract][Full Text] [Related]
7. 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; 18(1):63-67. PubMed ID: 28005197 [TBL] [Abstract][Full Text] [Related]
8. A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres. Gang Q; Bettencourt C; Holton J; Lovejoy C; Chelban V; Oconnor E; Yuan Y; Reilly MM; Hanna M; Houlden H J Neurol; 2020 Sep; 267(9):2705-2712. PubMed ID: 32444983 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. Nicholson G; Lenk GM; Reddel SW; Grant AE; Towne CF; Ferguson CJ; Simpson E; Scheuerle A; Yasick M; Hoffman S; Blouin R; Brandt C; Coppola G; Biesecker LG; Batish SD; Meisler MH Brain; 2011 Jul; 134(Pt 7):1959-71. PubMed ID: 21705420 [TBL] [Abstract][Full Text] [Related]
12. [Review of the recent literature on hereditary neuropathies]. Birouk N Rev Neurol (Paris); 2014 Dec; 170(12):846-9. PubMed ID: 25459128 [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]
16. A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease. Hong YB; Lee JH; Park JM; Choi YR; Hyun YS; Yoon BR; Yoo JH; Koo H; Jung SC; Chung KW; Choi BO BMC Med Genet; 2013 Dec; 14():125. PubMed ID: 24314034 [TBL] [Abstract][Full Text] [Related]
17. Charcot-Marie-Tooth disease with pyramidal features due to a new mutation of EGR2 gene. Fusco C; Spagnoli C; Salerno GG; Pavlidis E; Frattini D; Pisani F; Bassi MT Acta Biomed; 2019 Jan; 90(1):104-107. PubMed ID: 30889162 [TBL] [Abstract][Full Text] [Related]
18. "Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies. Romani M; Mehawej C; Mazza T; Mégarbané A; Valente EM Neurol Genet; 2016 Apr; 2(2):e61. PubMed ID: 27123480 [TBL] [Abstract][Full Text] [Related]
19. 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 [TBL] [Abstract][Full Text] [Related]