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Items: 45

1.

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.

Sainio MT, Ylikallio E, Mäenpää L, Lahtela J, Mattila P, Auranen M, Palmio J, Tyynismaa H.

Neurol Genet. 2018 Jun 5;4(3):e244. doi: 10.1212/NXG.0000000000000244. eCollection 2018 Jun.

2.

Focal atrophy of the unilateral masticatory muscles caused by pure trigeminal motor neuropathy: case report.

Kämppi A, Kämppi L, Kemppainen P, Kanerva M, Toppila J, Auranen M.

Clin Case Rep. 2018 Mar 30;6(5):939-943. doi: 10.1002/ccr3.1495. eCollection 2018 May.

3.

CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.

Brockmann SJ, Freischmidt A, Oeckl P, Müller K, Ponna SK, Helferich AM, Paone C, Reinders J, Kojer K, Orth M, Jokela M, Auranen M, Udd B, Hermann A, Danzer KM, Lichtner P, Walther P, Ludolph AC, Andersen PM, Otto M, Kursula P, Just S, Weishaupt JH.

Hum Mol Genet. 2018 Feb 15;27(4):706-715. doi: 10.1093/hmg/ddx436.

PMID:
29315381
4.

Diagnostics and current care of myasthenia gravis.

Atula S, Pfau K, Salmi T, Sihvo E, Haapio M, Saarela M, Auranen M.

Duodecim. 2017;133(11):1053-62. Review.

PMID:
29243896
5.

Adrenomyeloneuropathy due to mutation in the ABCD1 gene as underlying factor in spastic paraparesis.

Ylikallio E, Rahikkala E, Keski-Filppula R, Auranen M, Tyynismaa H.

Duodecim. 2017;133(7):683-7.

PMID:
29243459
6.

Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C.

Auranen M, Toppila J, Suriyanarayanan S, Lone MA, Paetau A, Tyynismaa H, Hornemann T, Ylikallio E.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a002212. doi: 10.1101/mcs.a002212. Print 2017 Nov.

7.

Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy.

Auranen M, Paetau A, Piirilä P, Pohju A, Salmi T, Lamminen A, Löfberg M, Mosegaard S, Olsen RK, Tyni T.

Neuromuscul Disord. 2017 Jun;27(6):581-584. doi: 10.1016/j.nmd.2017.03.003. Epub 2017 Mar 9.

PMID:
28433476
8.

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.

Cooper HM, Yang Y, Ylikallio E, Khairullin R, Woldegebriel R, Lin KL, Euro L, Palin E, Wolf A, Trokovic R, Isohanni P, Kaakkola S, Auranen M, Lönnqvist T, Wanrooij S, Tyynismaa H.

Hum Mol Genet. 2017 Apr 15;26(8):1432-1443. doi: 10.1093/hmg/ddx042.

9.

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.

Ylikallio E, Auranen M, Mahjneh I, Lamminen A, Kousi M, Träskelin AL, Muurinen T, Löfberg M, Salmi T, Paetau A, Lehesjoki AE, Piirilä P, Kiuru-Enari S.

J Neuromuscul Dis. 2016 Nov 29;3(4):475-485.

PMID:
27911336
10.

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
11.

Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patients.

Ahola S, Auranen M, Isohanni P, Niemisalo S, Urho N, Buzkova J, Velagapudi V, Lundbom N, Hakkarainen A, Muurinen T, Piirilä P, Pietiläinen KH, Suomalainen A.

EMBO Mol Med. 2016 Nov 2;8(11):1234-1247. doi: 10.15252/emmm.201606592. Print 2016 Nov.

12.

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders.

Lehtonen JM, Forsström S, Bottani E, Viscomi C, Baris OR, Isoniemi H, Höckerstedt K, Österlund P, Hurme M, Jylhävä J, Leppä S, Markkula R, Heliö T, Mombelli G, Uusimaa J, Laaksonen R, Laaksovirta H, Auranen M, Zeviani M, Smeitink J, Wiesner RJ, Nakada K, Isohanni P, Suomalainen A.

Neurology. 2016 Nov 29;87(22):2290-2299. Epub 2016 Oct 28.

13.

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease.

Piirilä P, Similä ME, Palmio J, Wuorimaa T, Ylikallio E, Sandell S, Haapalahti P, Uotila L, Tyynismaa H, Udd B, Auranen M.

Front Neurol. 2016 May 30;7:82. doi: 10.3389/fneur.2016.00082. eCollection 2016.

14.

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.

Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H.

Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006.

15.

Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.

Kelly JJ, Esseltine JL, Shao Q, Jabs EW, Sampson J, Auranen M, Bai D, Laird DW.

Mol Biol Cell. 2016 Jul 15;27(14):2172-85. doi: 10.1091/mbc.E16-01-0062. Epub 2016 May 25.

16.

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M, Laurense-Bik MEY, Raz V, van Ostaijen-Ten Dam MM, Hansson KBM, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM.

Am J Hum Genet. 2016 May 5;98(5):1020-1029. doi: 10.1016/j.ajhg.2016.03.013.

17.

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry.

Auranen M, Palmio J, Ylikallio E, Huovinen S, Paetau A, Sandell S, Haapasalo H, Viitaniemi K, Piirilä P, Tyynismaa H, Udd B.

Neurol Genet. 2015 Jun 4;1(1):e7. doi: 10.1212/NXG.0000000000000007. eCollection 2015 Jun.

18.

CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease.

Auranen M, Ylikallio E, Shcherbii M, Paetau A, Kiuru-Enari S, Toppila JP, Tyynismaa H.

Neurol Genet. 2015 Mar 26;1(1):e1. doi: 10.1212/NXG.0000000000000003. eCollection 2015 Jun.

19.

Myotonia in ion channel diseases of muscle.

Partanen J, Isohanni P, Auranen M.

Duodecim. 2016;132(19):1810-4.

PMID:
29188980
20.

Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress.

Ylikallio E, Konovalova S, Dhungana Y, Hilander T, Junna N, Partanen JV, Toppila JP, Auranen M, Tyynismaa H.

BBA Clin. 2015 Mar 11;3:233-42. doi: 10.1016/j.bbacli.2015.03.002. eCollection 2015 Jun.

21.

The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.

Suriyanarayanan S, Auranen M, Toppila J, Paetau A, Shcherbii M, Palin E, Wei Y, Lohioja T, Schlotter-Weigel B, Schön U, Abicht A, Rautenstrauss B, Tyynismaa H, Walter MC, Hornemann T, Ylikallio E.

Neuromolecular Med. 2016 Mar;18(1):81-90. doi: 10.1007/s12017-015-8379-1. Epub 2015 Nov 16.

PMID:
26573920
22.

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
23.

Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.

Pasanen P, Myllykangas L, Pöyhönen M, Kiuru-Enari S, Tienari PJ, Laaksovirta H, Toppila J, Ylikallio E, Tyynismaa H, Auranen M.

Acta Neurol Scand. 2016 May;133(5):361-6. doi: 10.1111/ane.12470. Epub 2015 Jul 30.

PMID:
26224640
24.

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.

Ylikallio E, Kim D, Isohanni P, Auranen M, Kim E, Lönnqvist T, Tyynismaa H.

Eur J Hum Genet. 2015 Oct;23(10):1427-30. doi: 10.1038/ejhg.2014.297. Epub 2015 Jan 14.

25.

Screening for late-onset Pompe disease in Finland.

Palmio J, Auranen M, Kiuru-Enari S, Löfberg M, Bodamer O, Udd B.

Neuromuscul Disord. 2014 Nov;24(11):982-5. doi: 10.1016/j.nmd.2014.06.438. Epub 2014 Jun 28.

PMID:
25047669
26.

Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3.

Khan NA, Auranen M, Paetau I, Pirinen E, Euro L, Forsström S, Pasila L, Velagapudi V, Carroll CJ, Auwerx J, Suomalainen A.

EMBO Mol Med. 2014 Jun;6(6):721-31. doi: 10.1002/emmm.201403943.

27.

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

Ylikallio E, Johari M, Konovalova S, Moilanen JS, Kiuru-Enari S, Auranen M, Pajunen L, Tyynismaa H.

Eur J Hum Genet. 2014 Apr;22(4):522-7. doi: 10.1038/ejhg.2013.190. Epub 2013 Aug 21.

28.

Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.

Auranen M, Ylikallio E, Toppila J, Somer M, Kiuru-Enari S, Tyynismaa H.

Neurogenetics. 2013 May;14(2):123-32. doi: 10.1007/s10048-013-0358-9. Epub 2013 Mar 3.

PMID:
23456260
29.

Hartia-lantiodystrofioiden molekyyligenetiikka Suomessa.

Raheem O, Suominen T, Hackman P, Vihola A, Auranen M, Kalimo H, Mahjneh I, Kärppä M, Haapasalo H, Udd B.

Duodecim. 2006;122(17):2130-6. Finnish. No abstract available.

PMID:
17115630
30.

Pitt-Hopkins syndrome in two patients and further definition of the phenotype.

Peippo MM, Simola KO, Valanne LK, Larsen AT, Kähkönen M, Auranen MP, Ignatius J.

Clin Dysmorphol. 2006 Apr;15(2):47-54.

PMID:
16531728
31.

Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families.

Ylisaukko-oja T, Alarcón M, Cantor RM, Auranen M, Vanhala R, Kempas E, von Wendt L, Järvelä I, Geschwind DH, Peltonen L.

Ann Neurol. 2006 Jan;59(1):145-55.

PMID:
16288458
32.

Analysis of four neuroligin genes as candidates for autism.

Ylisaukko-oja T, Rehnström K, Auranen M, Vanhala R, Alen R, Kempas E, Ellonen P, Turunen JA, Makkonen I, Riikonen R, Nieminen-von Wendt T, von Wendt L, Peltonen L, Järvelä I.

Eur J Hum Genet. 2005 Dec;13(12):1285-92.

33.

Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients.

Hackman P, Juvonen V, Sarparanta J, Penttinen M, Aärimaa T, Uusitalo M, Auranen M, Pihko H, Alén R, Junes M, Lönnqvist T, Kalimo H, Udd B.

Muscle Nerve. 2005 Feb;31(2):199-204.

PMID:
15736300
34.

Evidence for allelic association on chromosome 3q25-27 in families with autism spectrum disorders originating from a subisolate of Finland.

Auranen M, Varilo T, Alen R, Vanhala R, Ayers K, Kempas E, Ylisaukko-Oja T, Peltonen L, Järvelä I.

Mol Psychiatry. 2003 Oct;8(10):879-84.

PMID:
14515138
35.

Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy.

Minassian BA, Aiyar R, Alic S, Banwell B, Villanova M, Fardeau M, Mandell JW, Juel VC, Rafii M, Auranen M, Kalimo H.

Neurology. 2002 Aug 27;59(4):596-601.

PMID:
12196656
36.

A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27.

Auranen M, Vanhala R, Varilo T, Ayers K, Kempas E, Ylisaukko-Oja T, Sinsheimer JS, Peltonen L, Järvelä I.

Am J Hum Genet. 2002 Oct;71(4):777-90. Epub 2002 Aug 21.

37.

[First gene connected to autism spectrum disorders has been found].

Auranen M, Vanhala R, Järvelä I.

Duodecim. 2000;116(20):2185-7. Finnish. No abstract available.

PMID:
12017623
38.

Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21.

Auranen M, Ala-Mello S, Turunen JA, Järvelä I.

Kidney Int. 2001 Oct;60(4):1225-32.

39.

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene.

Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, Voit T, Labeit S, Somer H, Peltonen L, Beckmann JS, Udd B.

Neurology. 2001 Apr 10;56(7):869-77.

PMID:
11294923
40.

MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.

Auranen M, Vanhala R, Vosman M, Levander M, Varilo T, Hietala M, Riikonen R, Peltonen L, Järvelä I.

Neurology. 2001 Mar 13;56(5):611-7.

PMID:
11245712
41.

Analysis of autism susceptibility gene loci on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q in Finnish multiplex families.

Auranen M, Nieminen T, Majuri S, Vanhala R, Peltonen L, Järvelä I.

Mol Psychiatry. 2000 May;5(3):320-2.

PMID:
10889536
42.

X-linked vacuolar myopathies: two separate loci and refined genetic mapping.

Auranen M, Villanova M, Muntoni F, Fardeau M, Scherer SW, Kalino H, Minassian BA.

Ann Neurol. 2000 May;47(5):666-9.

PMID:
10805342
43.

Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease.

Auranen M, Rapola J, Pihko H, Haltia M, Leivo I, Soinila S, Virtanen I, Kalimo H, Anderson LV, Santavuori P, Somer H.

Neuromuscul Disord. 2000 Jan;10(1):16-23.

PMID:
10677859
44.

Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.

Höglund P, Auranen M, Socha J, Popinska K, Nazer H, Rajaram U, Al Sanie A, Al-Ghanim M, Holmberg C, de la Chapelle A, Kere J.

Am J Hum Genet. 1998 Sep;63(3):760-8.

45.

[Gene errors in muscular diseases].

Somer H, Auranen M.

Duodecim. 1997;113(18):1795-802. Review. Finnish. No abstract available.

PMID:
10892072

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