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Items: 1 to 50 of 79

1.

ANO5 Muscle Disease.

Penttilä S, Vihola A, Palmio J, Udd B.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2012 Nov 29 [updated 2019 Aug 22].

2.

Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression.

Vihola A, Palmio J, Danielsson O, Penttilä S, Louiselle D, Pittman S, Weihl C, Udd B.

Neurol Genet. 2019 May 2;5(3):e337. doi: 10.1212/NXG.0000000000000337. eCollection 2019 Jun.

3.

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.

Palmio J, Leonard-Louis S, Sacconi S, Savarese M, Penttilä S, Semmler AL, Kress W, Mozaffar T, Lai T, Stojkovic T, Berardo A, Reisin R, Attarian S, Urtizberea A, Cobo AM, Maggi L, Kurbatov S, Nikitin S, Milisenda JC, Fatehi F, Raimondi M, Silveira F, Hackman P, Claeys KG, Udd B.

J Neurol. 2019 Mar;266(3):680-690. doi: 10.1007/s00415-019-09187-2. Epub 2019 Jan 21.

4.

First Observation of P-odd γ Asymmetry in Polarized Neutron Capture on Hydrogen.

Blyth D, Fry J, Fomin N, Alarcon R, Alonzi L, Askanazi E, Baeßler S, Balascuta S, Barrón-Palos L, Barzilov A, Bowman JD, Birge N, Calarco JR, Chupp TE, Cianciolo V, Coppola CE, Crawford CB, Craycraft K, Evans D, Fieseler C, Frlež E, Garishvili I, Gericke MTW, Gillis RC, Grammer KB, Greene GL, Hall J, Hamblen J, Hayes C, Iverson EB, Kabir ML, Kucuker S, Lauss B, Mahurin R, McCrea M, Maldonado-Velázquez M, Masuda Y, Mei J, Milburn R, Mueller PE, Musgrave M, Nann H, Novikov I, Parsons D, Penttilä SI, Počanić D, Ramirez-Morales A, Root M, Salas-Bacci A, Santra S, Schröder S, Scott E, Seo PN, Sharapov EI, Simmons F, Snow WM, Sprow A, Stewart J, Tang E, Tang Z, Tong X, Turkoglu DJ, Whitehead R, Wilburn WS; NPDGamma Collaboration.

Phys Rev Lett. 2018 Dec 14;121(24):242002. doi: 10.1103/PhysRevLett.121.242002.

PMID:
30608729
5.

Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy.

Jokela M, Baumann P, Huovinen S, Penttilä S, Udd B.

J Neuromuscul Dis. 2019;6(1):143-146. doi: 10.3233/JND-180350.

PMID:
30372688
6.

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.

7.

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
8.

Observation of coherent elastic neutrino-nucleus scattering.

Akimov D, Albert JB, An P, Awe C, Barbeau PS, Becker B, Belov V, Brown A, Bolozdynya A, Cabrera-Palmer B, Cervantes M, Collar JI, Cooper RJ, Cooper RL, Cuesta C, Dean DJ, Detwiler JA, Eberhardt A, Efremenko Y, Elliott SR, Erkela EM, Fabris L, Febbraro M, Fields NE, Fox W, Fu Z, Galindo-Uribarri A, Green MP, Hai M, Heath MR, Hedges S, Hornback D, Hossbach TW, Iverson EB, Kaufman LJ, Ki S, Klein SR, Khromov A, Konovalov A, Kremer M, Kumpan A, Leadbetter C, Li L, Lu W, Mann K, Markoff DM, Miller K, Moreno H, Mueller PE, Newby J, Orrell JL, Overman CT, Parno DS, Penttila S, Perumpilly G, Ray H, Raybern J, Reyna D, Rich GC, Rimal D, Rudik D, Scholberg K, Scholz BJ, Sinev G, Snow WM, Sosnovtsev V, Shakirov A, Suchyta S, Suh B, Tayloe R, Thornton RT, Tolstukhin I, Vanderwerp J, Varner RL, Virtue CJ, Wan Z, Yoo J, Yu CH, Zawada A, Zettlemoyer J, Zderic AM; COHERENT Collaboration.

Science. 2017 Sep 15;357(6356):1123-1126. doi: 10.1126/science.aao0990. Epub 2017 Aug 3.

PMID:
28775215
9.

Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathy.

Jokela M, Huovinen S, Palmio J, Saukkonen AM, Penttilä S, Udd B.

Neuromuscul Disord. 2017 Oct;27(10):962-963. doi: 10.1016/j.nmd.2017.06.014. Epub 2017 Jun 23. No abstract available.

PMID:
28694073
10.

Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.

Vihola A, Luque H, Savarese M, Penttilä S, Lindfors M, Leturcq F, Eymard B, Tasca G, Brais B, Conte T, Charton K, Richard I, Udd B.

Neuropathol Appl Neurobiol. 2018 Aug;44(5):441-448. doi: 10.1111/nan.12410. Epub 2017 Jun 6.

PMID:
28489263
11.

Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.

Balcin H, Palmio J, Penttilä S, Nennesmo I, Lindfors M, Solders G, Udd B.

Neuromuscul Disord. 2017 Jul;27(7):627-630. doi: 10.1016/j.nmd.2017.04.006. Epub 2017 Apr 18.

PMID:
28478914
12.

Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene.

Palmio J, Sandell S, Hanna MG, Männikkö R, Penttilä S, Udd B.

Neurology. 2017 Apr 18;88(16):1520-1527. doi: 10.1212/WNL.0000000000003846. Epub 2017 Mar 22.

13.

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.

Palmio J, Kärppä M, Baumann P, Penttilä S, Moilanen J, Udd B.

Clin Case Rep. 2016 Oct 26;4(12):1151-1156. eCollection 2016 Dec.

14.

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.

Rudolf G, Suominen T, Penttilä S, Hackman P, Evilä A, Lannes B, Echaniz-Laguna A, Bierry G, Tranchant C, Udd B.

J Neuromuscul Dis. 2016 May 27;3(2):275-281.

PMID:
27854214
15.

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients.

Penttilä S, Jokela M, Saukkonen AM, Toivanen J, Palmio J, Lähdesmäki J, Sandell S, Shcherbii M, Auranen M, Ylikallio E, Tyynismaa H, Udd B.

J Neurol Neurosurg Psychiatry. 2017 Mar;88(3):272-277. doi: 10.1136/jnnp-2016-314154. Epub 2016 Nov 3. No abstract available.

PMID:
27810918
16.

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
17.

Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation.

Alvarez VC, Penttilä ST, Salutto VL, Udd B, Mazia CG.

Neurol Genet. 2016 Oct 11;2(6):e109. eCollection 2016 Dec.

18.

Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders.

Jokela M, Huovinen S, Raheem O, Lindfors M, Palmio J, Penttilä S, Udd B.

PLoS One. 2016 Mar 21;11(3):e0151376. doi: 10.1371/journal.pone.0151376. eCollection 2016.

19.

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.

20.

Distal myopathies in Finnish patients.

Palmio J, Jokela M, Sandell S, Suominen T, Penttilä S, Udd B.

Duodecim. 2016;132(18):1635-44. Review.

PMID:
29188941
21.

Differential isoform expression and selective muscle involvement in muscular dystrophies.

Huovinen S, Penttilä S, Somervuo P, Keto J, Auvinen P, Vihola A, Huovinen S, Pelin K, Raheem O, Salenius J, Suominen T, Hackman P, Udd B.

Am J Pathol. 2015 Oct;185(10):2833-42. doi: 10.1016/j.ajpath.2015.06.018. Epub 2015 Aug 9.

PMID:
26269091
22.

Reply: To PMID 25428574.

Jokela M, Penttilä S, Udd B.

Ann Neurol. 2015 Nov;78(5):831-2. doi: 10.1002/ana.24465. Epub 2015 Aug 31. No abstract available.

PMID:
26095158
23.

Spontaneous activity in electromyography may differentiate certain benign lower motor neuron disease forms from amyotrophic lateral sclerosis.

Jokela ME, Jääskeläinen SK, Sandell S, Palmio J, Penttilä S, Saukkonen A, Soikkeli R, Udd B.

J Neurol Sci. 2015 Aug 15;355(1-2):143-6. doi: 10.1016/j.jns.2015.06.002. Epub 2015 Jun 3.

PMID:
26059445
24.

Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy.

Mercier S, Magot A, Caillon F, Isidor B, David A, Ferrer X, Vital A, Coquet M, Penttilä S, Udd B, Mussini JM, Pereon Y.

Muscle Nerve. 2015 Oct;52(4):673-80. doi: 10.1002/mus.24664. Epub 2015 Jun 3.

PMID:
25809233
25.

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

Penttilä S, Jokela M, Bouquin H, Saukkonen AM, Toivanen J, Udd B.

Ann Neurol. 2015 Jan;77(1):163-72. doi: 10.1002/ana.24319. Epub 2014 Dec 12.

PMID:
25428574
26.

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG.

Hum Mutat. 2014 Jul;35(7):868-79. doi: 10.1002/humu.22553. Epub 2014 May 21.

27.

Atypical phenotypes in titinopathies explained by second titin mutations.

Evilä A, Vihola A, Sarparanta J, Raheem O, Palmio J, Sandell S, Eymard B, Illa I, Rojas-Garcia R, Hankiewicz K, Negrão L, Löppönen T, Nokelainen P, Kärppä M, Penttilä S, Screen M, Suominen T, Richard I, Hackman P, Udd B.

Ann Neurol. 2014 Feb;75(2):230-40. doi: 10.1002/ana.24102. Epub 2014 Feb 24.

PMID:
24395473
28.

Late-onset spinal motor neuronopathy - a common form of dominant SMA.

Penttilä S, Jokela M, Huovinen S, Saukkonen AM, Toivanen J, Lindberg C, Baumann P, Udd B.

Neuromuscul Disord. 2014 Mar;24(3):259-68. doi: 10.1016/j.nmd.2013.11.010. Epub 2013 Nov 26.

PMID:
24360573
29.

[The expanding spectrum of LGMD--recently discovered disease genes are important also in Finnish patients].

Jokela M, Palmio J, Sandell S, Penttilä S, Suominen T, Udd B.

Duodecim. 2013;129(19):2011-20. Finnish.

PMID:
24218732
30.

An unusual phenotype of late-onset desminopathy.

Palmio J, Penttilä S, Huovinen S, Haapasalo H, Udd B.

Neuromuscul Disord. 2013 Nov;23(11):922-3. doi: 10.1016/j.nmd.2013.06.374. Epub 2013 Jul 30. No abstract available.

PMID:
23911073
31.

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.

Raheem O, Penttilä S, Suominen T, Kaakinen M, Burge J, Haworth A, Sud R, Schorge S, Haapasalo H, Sandell S, Metsikkö K, Hanna M, Udd B.

Neurology. 2012 Nov 27;79(22):2194-200. doi: 10.1212/WNL.0b013e31827595e2. Epub 2012 Nov 14.

32.

TARDBP mutations are not a frequent cause of ALS in Finnish patients.

Mentula HK, Tuovinen L, Penttilä S, Suominen T, Udd B, Palmio J.

Acta Myol. 2012 Oct;31(2):134-8.

33.

Camptocormia as presenting sign in myofibrillar myopathy.

Renard D, Castelnovo G, Fernandez C, De Paula AM, Penttilä S, Suominen T, Udd B.

Neuromuscul Disord. 2012 Nov;22(11):987-9. doi: 10.1016/j.nmd.2012.06.004. Epub 2012 Jun 28.

PMID:
22749474
34.

Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.

Penttilä S, Jokela M, Hackman P, Maija Saukkonen A, Toivanen J, Udd B.

Eur J Hum Genet. 2012 Nov;20(11):1193-6. doi: 10.1038/ejhg.2012.76. Epub 2012 Apr 25.

35.

New phenotype and pathology features in MYH7-related distal myopathy.

Tasca G, Ricci E, Penttilä S, Monforte M, Giglio V, Ottaviani P, Camastra G, Silvestri G, Udd B.

Neuromuscul Disord. 2012 Jul;22(7):640-7. doi: 10.1016/j.nmd.2012.03.003. Epub 2012 Apr 20.

PMID:
22521714
36.

Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.

Cardani R, Giagnacovo M, Botta A, Rinaldi F, Morgante A, Udd B, Raheem O, Penttilä S, Suominen T, Renna LV, Sansone V, Bugiardini E, Novelli G, Meola G.

J Neurol. 2012 Oct;259(10):2090-9. doi: 10.1007/s00415-012-6462-1. Epub 2012 Mar 10.

PMID:
22407275
37.

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

Penttilä S, Palmio J, Suominen T, Raheem O, Evilä A, Muelas Gomez N, Tasca G, Waddell LB, Clarke NF, Barboi A, Hackman P, Udd B.

Neurology. 2012 Mar 20;78(12):897-903. doi: 10.1212/WNL.0b013e31824c4682. Epub 2012 Mar 7. Erratum in: Neurology. 2013 Jan 8;80(2):226.

PMID:
22402862
38.

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.

39.

Normal muscle MRI does not preclude increased connective tissue in muscle of recessive myotonia congenita.

Hilbert P, Frank S, Raheem O, Suominen T, Penttilä S, Udd B, Fischer D.

Acta Neurol Scand. 2011 Aug;124(2):146-7; author reply 148. doi: 10.1111/j.1600-0404.2011.01486.x. No abstract available.

PMID:
21732919
40.

Late-onset lower motor neuronopathy: a new autosomal dominant disorder.

Jokela M, Penttilä S, Huovinen S, Hackman P, Saukkonen AM, Toivanen J, Udd B.

Neurology. 2011 Jul 26;77(4):334-40. doi: 10.1212/WNL.0b013e3182267b71. Epub 2011 Jun 29.

PMID:
21715705
41.

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family.

Palmio J, Sandell S, Suominen T, Penttilä S, Raheem O, Hackman P, Huovinen S, Haapasalo H, Udd B.

Neuromuscul Disord. 2011 Aug;21(8):551-5. doi: 10.1016/j.nmd.2011.05.008.

PMID:
21684747
42.

Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.

Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schöffler W, van der Ven PFM, Fürst DO, Song J, Djinović-Carugo K, Penttilä S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG.

Am J Hum Genet. 2011 Jun 10;88(6):729-740. doi: 10.1016/j.ajhg.2011.04.021. Epub 2011 May 27.

43.

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient.

Dubourg O, Maisonobe T, Behin A, Suominen T, Raheem O, Penttilä S, Parton M, Eymard B, Dahl A, Udd B.

J Neurol. 2011 Jun;258(6):1157-63. doi: 10.1007/s00415-011-5900-9. Epub 2011 Jan 30.

PMID:
21279644
44.

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.

Pollazzon M, Suominen T, Penttilä S, Malandrini A, Carluccio MA, Mondelli M, Marozza A, Federico A, Renieri A, Hackman P, Dotti MT, Udd B.

J Neurol. 2010 Apr;257(4):575-9. doi: 10.1007/s00415-009-5372-3. Epub 2009 Nov 13.

PMID:
19911250
45.

Neutron beam effects on spin-exchange-polarized 3He.

Sharma M, Babcock E, Andersen KH, Barrón-Palos L, Becker M, Boag S, Chen WC, Chupp TE, Danagoulian A, Gentile TR, Klein A, Penttila S, Petoukhov A, Soldner T, Tardiff ER, Walker TG, Wilburn WS.

Phys Rev Lett. 2008 Aug 22;101(8):083002. Epub 2008 Aug 20.

PMID:
18764610
46.

Detector Development for the abBA Experiment.

Seo PN, Bowman JD, Mitchell GS, Penttila SI, Wilburn WS.

J Res Natl Inst Stand Technol. 2005 Aug 1;110(4):427-9. doi: 10.6028/jres.110.065. Print 2005 Jul-Aug.

47.

Measurement of Neutron Decay Parameters-The abBA Experiment.

Wilburn WS, Bowman JD, Mitchell GS, O'Donnell JM, Penttila SI, Seo PN, Calarco JR, Hersmann FW, Chupp TE, Cianciolo TV, Rykaczewski KP, Young GR, De Souza RT, Snow WM, Desai D, Greene GL, Grzywacz RK, Frlez E, Pocanic D, Gentile TR, Gudkov V, Jones GL.

J Res Natl Inst Stand Technol. 2005 Aug 1;110(4):389-93. doi: 10.6028/jres.110.058. Print 2005 Jul-Aug.

48.

On the Measurement of the Neutron Lifetime Using Ultracold Neutrons in a Vacuum Quadrupole Trap.

Bowman JD, Penttila SI.

J Res Natl Inst Stand Technol. 2005 Aug 1;110(4):361-6. doi: 10.6028/jres.110.054. Print 2005 Jul-Aug.

49.

Precision Neutron Polarimetry for Neutron Beta Decay.

Penttila SI, Bowman JD.

J Res Natl Inst Stand Technol. 2005 Jun 1;110(3):309-13. Print 2005 May-Jun.

50.

Commissioning of the NPDGamma Detector Array: Counting Statistics in Current Mode Operation and Parity Violation in the Capture of Cold Neutrons on B 4 C and (27) Al.

Gericke MT, Bowman JD, Carlini RD, Chupp TE, Coulter KP, Dabaghyan M, Desai D, Freedman SJ, Gentile TR, Gillis RC, Greene GL, Hersman FW, Ino T, Ishimoto S, Jones GL, Lauss B, Leuschner MB, Losowski B, Mahurin R, Masuda Y, Mitchell GS, Muto S, Nann H, Page SA, Penttila SI, Ramsay WD, Santra S, Seo PN, Sharapov EI, Smith TB, Snow WM, Wilburn WS, Yuan V, Zhu H.

J Res Natl Inst Stand Technol. 2005 Jun 1;110(3):215-9. Print 2005 May-Jun.

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