152 related articles for article (PubMed ID: 31769568)
1. In silico and in vitro effects of the I30T mutation on myelin protein zero instability in the cell membrane.
Ghanavatinejad F; Pourteymourfard-Tabrizi Z; Mahnam K; Doosti A; Mehri-Ghahfarrokhi A; Pourhadi M; Azimeh Hosseini S; Hashemzadeh Chaleshtori M; Soltanzadeh P; Jami MS
Cell Biol Int; 2020 Feb; 44(2):671-683. PubMed ID: 31769568
[TBL] [Abstract][Full Text] [Related]
2. Impact of I30T and I30M substitution in MPZ gene associated with Dejerine-Sottas syndrome type B (DSSB): A molecular modeling and dynamics.
Agrahari A; George Priya Doss C
J Theor Biol; 2015 Oct; 382():23-33. PubMed ID: 26135405
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation.
Eggers SD; Keswani SC; Melli G; Cornblath DR
Muscle Nerve; 2004 Jun; 29(6):867-9. PubMed ID: 15170620
[TBL] [Abstract][Full Text] [Related]
5. Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
Roa BB; Warner LE; Garcia CA; Russo D; Lovelace R; Chance PF; Lupski JR
Hum Mutat; 1996; 7(1):36-45. PubMed ID: 8664899
[TBL] [Abstract][Full Text] [Related]
6. Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B.
Matsuyama W; Nakagawa M; Takashima H; Osame M
Acta Neuropathol; 2002 May; 103(5):501-8. PubMed ID: 11935267
[TBL] [Abstract][Full Text] [Related]
7. Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.
Su Y; Brooks DG; Li L; Lepercq J; Trofatter JA; Ravetch JV; Lebo RV
Proc Natl Acad Sci U S A; 1993 Nov; 90(22):10856-60. PubMed ID: 7504284
[TBL] [Abstract][Full Text] [Related]
8. Upregulation of large myelin protein zero leads to Charcot-Marie-Tooth disease-like neuropathy in mice.
Otani Y; Ohno N; Cui J; Yamaguchi Y; Baba H
Commun Biol; 2020 Mar; 3(1):121. PubMed ID: 32170207
[TBL] [Abstract][Full Text] [Related]
9. Charcot-Marie-Tooth 1B caused by expansion of a familial myelin protein zero (MPZ) gene duplication.
Speevak MD; Farrell SA
Eur J Med Genet; 2013 Oct; 56(10):566-9. PubMed ID: 23811036
[TBL] [Abstract][Full Text] [Related]
10. Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations.
Kim HJ; Nam SH; Kwon HM; Lim SO; Park JH; Kim HS; Kim SB; Lee KS; Lee JE; Choi BO; Chung KW
Mol Genet Genomic Med; 2021 Jun; 9(6):e1678. PubMed ID: 33825325
[TBL] [Abstract][Full Text] [Related]
11. Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
Huehne K; Benes V; Thiel C; Kraus C; Kress W; Hoeltzenbein M; Ploner CJ; Kotzian J; Reis A; Rott HD; Rautenstrauss BW
Hum Mutat; 2003 Jan; 21(1):100. PubMed ID: 12497641
[TBL] [Abstract][Full Text] [Related]
12. Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease.
Nowakowski A; Kochański A
Acta Biochim Pol; 2004; 51(1):273-80. PubMed ID: 15094849
[TBL] [Abstract][Full Text] [Related]
13. Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.
Kochański A; Drac H; Jedrzejowska H; Hausmanowa-Petrusewicz I
Eur J Neurol; 2003 Sep; 10(5):547-9. PubMed ID: 12940837
[TBL] [Abstract][Full Text] [Related]
14. Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
Bremer J; Meinhardt A; Katona I; Senderek J; Kämmerer-Gassler EK; Roos A; Ferbert A; Schröder JM; Nikolin S; Nolte K; Sellhaus B; Popzhelyazkova K; Tacke F; Schara-Schmidt U; Neuen-Jacob E; de Groote CC; de Jonghe P; Timmerman V; Baets J; Weis J
Brain Pathol; 2024 Jan; 34(1):e13200. PubMed ID: 37581289
[TBL] [Abstract][Full Text] [Related]
15. Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
Grandis M; Vigo T; Passalacqua M; Jain M; Scazzola S; La Padula V; Brucal M; Benvenuto F; Nobbio L; Cadoni A; Mancardi GL; Kamholz J; Shy ME; Schenone A
Hum Mol Genet; 2008 Jul; 17(13):1877-89. PubMed ID: 18337304
[TBL] [Abstract][Full Text] [Related]
16. A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B.
Fabrizi GM; Ferrarini M; Cavallaro T; Jarre L; Polo A; Rizzuto N
Neurology; 2001 Jul; 57(1):101-5. PubMed ID: 11445635
[TBL] [Abstract][Full Text] [Related]
17. Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B.
Sabet A; Li J; Ghandour K; Pu Q; Wu X; Kamholz J; Shy ME; Cambi F
Neurology; 2006 Oct; 67(7):1141-6. PubMed ID: 17030746
[TBL] [Abstract][Full Text] [Related]
18. A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies.
Iida M; Koike H; Ando T; Sugiura M; Yamamoto M; Tanaka F; Sobue G
Neuromuscul Disord; 2012 Feb; 22(2):166-9. PubMed ID: 21940171
[TBL] [Abstract][Full Text] [Related]
19. MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis.
Choi BO; Kim SB; Kanwal S; Hyun YS; Park SW; Koo H; Yoo JH; Hyun JW; Park KD; Choi KG; Chung KW
Int J Mol Med; 2011 Sep; 28(3):389-96. PubMed ID: 21503568
[TBL] [Abstract][Full Text] [Related]
20. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
Hattori N; Yamamoto M; Yoshihara T; Koike H; Nakagawa M; Yoshikawa H; Ohnishi A; Hayasaka K; Onodera O; Baba M; Yasuda H; Saito T; Nakashima K; Kira J; Kaji R; Oka N; Sobue G;
Brain; 2003 Jan; 126(Pt 1):134-51. PubMed ID: 12477701
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
