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Items: 1 to 20 of 74

1.

A multiple sclerosis-like disorder in patients with OPA1 mutations.

Yu-Wai-Man P, Spyropoulos A, Duncan HJ, Guadagno JV, Chinnery PF.

Ann Clin Transl Neurol. 2016 Jul 19;3(9):723-9. doi: 10.1002/acn3.323. eCollection 2016 Sep.

2.

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).

Giorgio E, Robyr D, Spielmann M, Ferrero E, Di Gregorio E, Imperiale D, Vaula G, Stamoulis G, Santoni F, Atzori C, Gasparini L, Ferrera D, Canale C, Guipponi M, Pennacchio LA, Antonarakis SE, Brussino A, Brusco A.

Hum Mol Genet. 2015 Jun 1;24(11):3143-54. doi: 10.1093/hmg/ddv065. Epub 2015 Feb 20.

3.

ADLD: a novel graphical representation of protein sequences and its application.

Wang L, Peng H, Zheng J.

Comput Math Methods Med. 2014;2014:959753. doi: 10.1155/2014/959753. Epub 2014 Oct 30.

4.

Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms.

Schuster J, Sundblom J, Thuresson AC, Hassin-Baer S, Klopstock T, Dichgans M, Cohen OS, Raininko R, Melberg A, Dahl N.

Neurogenetics. 2011 Feb;12(1):65-72. doi: 10.1007/s10048-010-0269-y. Epub 2011 Jan 12.

PMID:
21225301
5.

Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies.

Padiath QS.

Nucleus. 2016 Nov;7(6):547-553. doi: 10.1080/19491034.2016.1260799. Review.

PMID:
27854160
6.

Calcium-insensitive splice variants of mammalian E1 subunit of 2-oxoglutarate dehydrogenase complex with tissue-specific patterns of expression.

Denton RM, Pullen TJ, Armstrong CT, Heesom KJ, Rutter GA.

Biochem J. 2016 May 1;473(9):1165-78. doi: 10.1042/BCJ20160135. Epub 2016 Mar 2.

PMID:
26936970
7.

A longitudinal study of a family with adult-onset autosomal dominant leukodystrophy: Clinical, autonomic and neuropsychological findings.

Terlizzi R, Calandra-Buonaura G, Zanigni S, Barletta G, Capellari S, Guaraldi P, Donadio V, Cason E, Contin M, Poda R, Tonon C, Sambati L, Gallassi R, Liguori R, Lodi R, Cortelli P.

Auton Neurosci. 2016 Feb;195:20-6. doi: 10.1016/j.autneu.2016.02.005. Epub 2016 Feb 8.

PMID:
26896090
8.

The -94Ins/DelATTG polymorphism in NFκB1 promoter modulates chronic hepatitis C and liver disease progression.

Fakhir FZ, Lkhider M, Badre W, Alaoui R, Pineau P, Ezzikouri S, Benjelloun S.

Infect Genet Evol. 2016 Apr;39:141-6. doi: 10.1016/j.meegid.2016.01.023. Epub 2016 Jan 28.

PMID:
26827631
9.

Defects of Lipid Synthesis Are Linked to the Age-Dependent Demyelination Caused by Lamin B1 Overexpression.

Rolyan H, Tyurina YY, Hernandez M, Amoscato AA, Sparvero LJ, Nmezi BC, Lu Y, Estécio MR, Lin K, Chen J, He RR, Gong P, Rigatti LH, Dupree J, Bayır H, Kagan VE, Casaccia P, Padiath QS.

J Neurosci. 2015 Aug 26;35(34):12002-17. doi: 10.1523/JNEUROSCI.1668-15.2015.

10.

Brain magnetic resonance metabolic and microstructural changes in adult-onset autosomal dominant leukodystrophy.

Zanigni S, Terlizzi R, Tonon C, Testa C, Manners DN, Capellari S, Gallassi R, Poda R, Gramegna LL, Calandra-Buonaura G, Sambati L, Cortelli P, Lodi R.

Brain Res Bull. 2015 Aug;117:24-31. doi: 10.1016/j.brainresbull.2015.07.002. Epub 2015 Jul 17.

PMID:
26189928
11.

LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course.

Finnsson J, Sundblom J, Dahl N, Melberg A, Raininko R.

Ann Neurol. 2015 Sep;78(3):412-25. doi: 10.1002/ana.24452. Epub 2015 Jul 27.

12.

MicroRNA: Key regulators of oligodendrocyte development and pathobiology.

Fitzpatrick JM, Anderson RC, McDermott KW.

Int J Biochem Cell Biol. 2015 Aug;65:134-8. doi: 10.1016/j.biocel.2015.05.021. Epub 2015 May 27. Review.

PMID:
26026282
13.

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S.

Hum Mol Genet. 2015 May 15;24(10):2746-56. doi: 10.1093/hmg/ddv034. Epub 2015 Jan 30.

14.

Update on several/certain adult-onset genetic leukoencephalopathies: clinical signs and molecular confirmation.

Di Donato I, Dotti MT, Federico A.

J Alzheimers Dis. 2014;42 Suppl 3:S27-35. doi: 10.3233/JAD-141026. Review.

PMID:
24958462
15.

Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts.

Ferrera D, Canale C, Marotta R, Mazzaro N, Gritti M, Mazzanti M, Capellari S, Cortelli P, Gasparini L.

FASEB J. 2014 Sep;28(9):3906-18. doi: 10.1096/fj.13-247635. Epub 2014 May 22.

16.

Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.

Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS.

Hum Mutat. 2013 Aug;34(8):1160-71. doi: 10.1002/humu.22348. Epub 2013 May 28. Erratum in: Hum Mutat. 2014 Jan;35(1):149.

17.

Lamin B1 fluctuations have differential effects on cellular proliferation and senescence.

Dreesen O, Chojnowski A, Ong PF, Zhao TY, Common JE, Lunny D, Lane EB, Lee SJ, Vardy LA, Stewart CL, Colman A.

J Cell Biol. 2013 Mar 4;200(5):605-17. doi: 10.1083/jcb.201206121. Epub 2013 Feb 25.

18.

Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant leukodystrophy.

Columbaro M, Mattioli E, Maraldi NM, Ortolani M, Gasparini L, D'Apice MR, Postorivo D, Nardone AM, Avnet S, Cortelli P, Liguori R, Lattanzi G.

Biochim Biophys Acta. 2013 Mar;1832(3):411-20. doi: 10.1016/j.bbadis.2012.12.006. Epub 2012 Dec 20. Erratum in: Biochim Biophys Acta. 2013 Dec;1832(12):2244.

19.

A patient with a rare leukodystrophy related to lamin B1 duplication.

Molloy A, Cotter O, van Spaendonk R, Sistermans E, Sweeney B.

Ir Med J. 2012 Jun;105(6):186-7.

PMID:
22973660
20.

Variability in the precore and core promoter regions of HBV strains in Morocco: characterization and impact on liver disease progression.

Kitab B, Essaid El Feydi A, Afifi R, Trepo C, Benazzouz M, Essamri W, Zoulim F, Chemin I, Alj HS, Ezzikouri S, Benjelloun S.

PLoS One. 2012;7(8):e42891. doi: 10.1371/journal.pone.0042891. Epub 2012 Aug 14.

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