Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 22

1.

Mutations in the J domain of DNAJB6 cause dominant distal myopathy.

Palmio J, Jonson PH, Inoue M, Sarparanta J, Bengoechea R, Savarese M, Vihola A, Jokela M, Nakagawa M, Noguchi S, Olivé M, Masingue M, Kerty E, Hackman P, Weihl CC, Nishino I, Udd B.

Neuromuscul Disord. 2019 Nov 19. pii: S0960-8966(19)31201-5. doi: 10.1016/j.nmd.2019.11.005. [Epub ahead of print]

PMID:
31955980
2.

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.

Savarese M, Palmio J, Poza JJ, Weinberg J, Olive M, Cobo AM, Vihola A, Jonson PH, Sarparanta J, García-Bragado F, Urtizberea JA, Hackman P, Udd B.

Ann Neurol. 2019 Jun;85(6):899-906. doi: 10.1002/ana.25470. Epub 2019 Apr 3.

PMID:
30900782
3.

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy.

Jokela M, Tasca G, Vihola A, Mercuri E, Jonson PH, Lehtinen S, Välipakka S, Pane M, Donati M, Johari M, Savarese M, Huovinen S, Isohanni P, Palmio J, Hartikainen P, Udd B.

Neurology. 2019 Apr 2;92(14):e1600-e1609. doi: 10.1212/WNL.0000000000007246. Epub 2019 Mar 6.

PMID:
30842289
4.

The complexity of titin splicing pattern in human adult skeletal muscles.

Savarese M, Jonson PH, Huovinen S, Paulin L, Auvinen P, Udd B, Hackman P.

Skelet Muscle. 2018 Mar 29;8(1):11. doi: 10.1186/s13395-018-0156-z.

5.

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

Lee Y, Jonson PH, Sarparanta J, Palmio J, Sarkar M, Vihola A, Evilä A, Suominen T, Penttilä S, Savarese M, Johari M, Minot MC, Hilton-Jones D, Maddison P, Chinnery P, Reimann J, Kornblum C, Kraya T, Zierz S, Sue C, Goebel H, Azfer A, Ralston SH, Hackman P, Bucelli RC, Taylor JP, Weihl CC, Udd B.

J Clin Invest. 2018 Mar 1;128(3):1164-1177. doi: 10.1172/JCI97103. Epub 2018 Feb 19.

6.

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.

Jonson PH, Palmio J, Johari M, Penttilä S, Evilä A, Nelson I, Bonne G, Wiart N, Meyer V, Boland A, Deleuze JF, Masson C, Stojkovic T, Chapon F, Romero NB, Solé G, Ferrer X, Ferreiro A, Hackman P, Richard I, Udd B.

Eur J Neurol. 2018 May;25(5):790-794. doi: 10.1111/ene.13598. Epub 2018 Mar 30.

PMID:
29437287
7.

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V.

JAMA Neurol. 2018 May 1;75(5):557-565. doi: 10.1001/jamaneurol.2017.4899. Erratum in: JAMA Neurol. 2018 Nov 1;75(11):1443.

8.

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

Evilä A, Palmio J, Vihola A, Savarese M, Tasca G, Penttilä S, Lehtinen S, Jonson PH, De Bleecker J, Rainer P, Auer-Grumbach M, Pouget J, Salort-Campana E, Vilchez JJ, Muelas N, Olive M, Hackman P, Udd B.

Mol Neurobiol. 2017 Nov;54(9):7212-7223. doi: 10.1007/s12035-016-0242-3. Epub 2016 Oct 29.

PMID:
27796757
9.

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

Ghaoui R, Palmio J, Brewer J, Lek M, Needham M, Evilä A, Hackman P, Jonson PH, Penttilä S, Vihola A, Huovinen S, Lindfors M, Davis RL, Waddell L, Kaur S, Yiannikas C, North K, Clarke N, MacArthur DG, Sue CM, Udd B.

Neurology. 2016 Jan 26;86(4):391-8. doi: 10.1212/WNL.0000000000002324. Epub 2015 Dec 30. Erratum in: Neurology. 2016 Mar 15;86(11):1077.

10.

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.

Palmio J, Jonson PH, Evilä A, Auranen M, Straub V, Bushby K, Sarkozy A, Kiuru-Enari S, Sandell S, Pihko H, Hackman P, Udd B.

Neuromuscul Disord. 2015 Nov;25(11):835-42. doi: 10.1016/j.nmd.2015.07.014. Epub 2015 Jul 27.

PMID:
26338452
11.

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.

Charton K, Sarparanta J, Vihola A, Milic A, Jonson PH, Suel L, Luque H, Boumela I, Richard I, Udd B.

Hum Mol Genet. 2015 Jul 1;24(13):3718-31. doi: 10.1093/hmg/ddv116. Epub 2015 Apr 15.

PMID:
25877298
12.

Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions.

Screen M, Jonson PH, Raheem O, Palmio J, Laaksonen R, Lehtimäki T, Sirito M, Krahe R, Hackman P, Udd B.

Am J Pathol. 2014 Aug;184(8):2322-32. doi: 10.1016/j.ajpath.2014.04.013. Epub 2014 Jun 5.

13.

Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy.

Screen M, Raheem O, Holmlund-Hampf J, Jonson PH, Huovinen S, Hackman P, Udd B.

PLoS One. 2014 Mar 11;9(3):e90819. doi: 10.1371/journal.pone.0090819. eCollection 2014.

14.

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.

Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evilä A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Åhlberg G, Edström L, Udd B.

Ann Neurol. 2013 Apr;73(4):500-9. doi: 10.1002/ana.23831. Epub 2013 Feb 11.

PMID:
23401021
15.

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M, McDonald K, Stajich JM, Mahjneh I, Vihola A, Raheem O, Penttilä S, Lehtinen S, Huovinen S, Palmio J, Tasca G, Ricci E, Hackman P, Hauser M, Katsanis N, Udd B.

Nat Genet. 2012 Feb 26;44(4):450-5, S1-2. doi: 10.1038/ng.1103.

16.

Microbubbles of air may occur in the organs of hemodialysis patients.

Stegmayr B, Brännström T, Forsberg U, Jonson P, Stegmayr C, Hultdin J.

ASAIO J. 2012 Mar-Apr;58(2):177-9. doi: 10.1097/MAT.0b013e318245d0dd.

PMID:
22236622
17.

Identification of the first fungal NADP-GAPDH from Kluyveromyces lactis.

Verho R, Richard P, Jonson PH, Sundqvist L, Londesborough J, Penttilä M.

Biochemistry. 2002 Nov 19;41(46):13833-8.

PMID:
12427047
18.

A critical view on conservative mutations.

Jonson PH, Petersen SB.

Protein Eng. 2001 Jun;14(6):397-402.

PMID:
11477218
19.

What distinguishes an esterase from a lipase: a novel structural approach.

Fojan P, Jonson PH, Petersen MT, Petersen SB.

Biochimie. 2000 Nov;82(11):1033-41. Review.

PMID:
11099800
20.

Amino acid neighbours and detailed conformational analysis of cysteines in proteins.

Petersen MT, Jonson PH, Petersen SB.

Protein Eng. 1999 Jul;12(7):535-48.

PMID:
10436079
21.

Protein engineering the surface of enzymes.

Petersen SB, Jonson PH, Fojan P, Petersen EI, Petersen MT, Hansen S, Ishak RJ, Hough E.

J Biotechnol. 1998 Nov 18;66(1):11-26.

PMID:
9866858
22.

The origin of trypsin: evidence for multiple gene duplications in trypsins.

Baptista AM, Jonson PH, Hough E, Petersen SB.

J Mol Evol. 1998 Sep;47(3):353-62.

PMID:
9732462

Supplemental Content

Loading ...
Support Center