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Items: 1 to 50 of 217

1.

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.

Savarese M, Torella A, Musumeci O, Angelini C, Astrea G, Bello L, Bruno C, Comi GP, Di Fruscio G, Piluso G, Di Iorio G, Ergoli M, Esposito G, Fanin M, Farina O, Fiorillo C, Garofalo A, Giugliano T, Magri F, Minetti C, Moggio M, Passamano L, Pegoraro E, Picillo E, Sampaolo S, Santorelli FM, Semplicini C, Udd B, Toscano A, Politano L, Nigro V.

Neuromuscul Disord. 2018 Apr 9. pii: S0960-8966(17)31489-X. doi: 10.1016/j.nmd.2018.03.011. [Epub ahead of print]

PMID:
29880332
2.

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.

Sellier C, Cerro-Herreros E, Blatter M, Freyermuth F, Gaucherot A, Ruffenach F, Sarkar P, Puymirat J, Udd B, Day JW, Meola G, Bassez G, Fujimura H, Takahashi MP, Schoser B, Furling D, Artero R, Allain FHT, Llamusi B, Charlet-Berguerand N.

Nat Commun. 2018 May 22;9(1):2009. doi: 10.1038/s41467-018-04370-x.

3.

Novel valosin-containing protein mutations associated with multisystem proteinopathy.

Al-Tahan S, Al-Obeidi E, Yoshioka H, Lakatos A, Weiss L, Grafe M, Palmio J, Wicklund M, Harati Y, Omizo M, Udd B, Kimonis V.

Neuromuscul Disord. 2018 Jun;28(6):491-501. doi: 10.1016/j.nmd.2018.04.007. Epub 2018 Apr 17.

PMID:
29754758
4.

Congenital titinopathy: Comprehensive characterisation and pathogenic insights.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi HB, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

Ann Neurol. 2018 Apr 25. doi: 10.1002/ana.25241. [Epub ahead of print]

PMID:
29691892
5.

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.

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.

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.

PMID:
29435569
9.

Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough.

Tasca G, Udd B.

Neuromuscul Disord. 2018 Mar;28(3):268-276. doi: 10.1016/j.nmd.2017.12.002. Epub 2017 Dec 12. Review.

PMID:
29361395
10.

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.

Castiglioni C, Fattori F, Udd B, de Los Angeles Avaria M, Suarez B, D'Amico A, Malandrini A, Carrozzo R, Verrigni D, Bertini E, Tasca G.

Eur J Hum Genet. 2018 Mar;26(3):367-373. doi: 10.1038/s41431-017-0003-4. Epub 2018 Jan 22.

PMID:
29358615
11.

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
12.

Pain in SCN4A Mutated P.A1156T muscle sodium channelopathy-a postal survey.

Suokas K, Palmio J, Sandell S, Udd B, Hietaharju A.

Muscle Nerve. 2018 Jun;57(6):1014-1017. doi: 10.1002/mus.26050. Epub 2018 Jan 11.

PMID:
29272040
13.

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.

Rossi D, Palmio J, Evilä A, Galli L, Barone V, Caldwell TA, Policke RA, Aldkheil E, Berndsen CE, Wright NT, Malfatti E, Brochier G, Pierantozzi E, Jordanova A, Guergueltcheva V, Romero NB, Hackman P, Eymard B, Udd B, Sorrentino V.

PLoS One. 2017 Oct 26;12(10):e0186642. doi: 10.1371/journal.pone.0186642. eCollection 2017.

14.

MRI in sarcoglycanopathies: a large international cohort study.

Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C.

J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):72-77. doi: 10.1136/jnnp-2017-316736. Epub 2017 Sep 9.

PMID:
28889091
15.

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.

D'Amico A, Fattori F, Tasca G, Petrini S, Gualandi F, Bruselles A, D'Oria V, Verardo M, Carrozzo R, Niceta M, Udd B, Ferlini A, Tartaglia M, Bertini E.

Eur J Paediatr Neurol. 2017 Nov;21(6):873-883. doi: 10.1016/j.ejpn.2017.07.009. Epub 2017 Jul 22.

PMID:
28760337
16.

A 'second truncation' in TTN causes early onset recessive muscular dystrophy.

Harris E, Töpf A, Vihola A, Evilä A, Barresi R, Hudson J, Hackman P, Herron B, MacArthur D, Lochmüller H, Bushby K, Udd B, Straub V.

Neuromuscul Disord. 2017 Nov;27(11):1009-1017. doi: 10.1016/j.nmd.2017.06.013. Epub 2017 Jun 22.

PMID:
28716623
17.

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
18.

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. 2017 May 10. doi: 10.1111/nan.12410. [Epub ahead of print]

PMID:
28489263
19.

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
20.

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.

21.

Association study reveals novel risk loci for sporadic inclusion body myositis.

Johari M, Arumilli M, Palmio J, Savarese M, Tasca G, Mirabella M, Sandholm N, Lohi H, Hackman P, Udd B.

Eur J Neurol. 2017 Apr;24(4):572-577. doi: 10.1111/ene.13244. Epub 2017 Feb 24.

PMID:
28233382
22.

219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April-1 May 2016.

Hackman P, Udd B, Bönnemann CG, Ferreiro A; Titinopathy Database Consortium.

Neuromuscul Disord. 2017 Apr;27(4):396-407. doi: 10.1016/j.nmd.2017.01.009. Epub 2017 Jan 16. No abstract available.

PMID:
28214268
23.

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.

24.

[Finland: an ideally valued genetic heritage].

Udd B, Brignol TN, Andoni Urtizberea J.

Med Sci (Paris). 2016 Nov;32 Hors série n°2:52-54. Epub 2016 Nov 21. French. No abstract available.

25.

Increasing Role of Titin Mutations in Neuromuscular Disorders.

Savarese M, Sarparanta J, Vihola A, Udd B, Hackman P.

J Neuromuscul Dis. 2016 Aug 30;3(3):293-308. Review.

26.

GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology.

Papadimas GK, Evilä A, Papadopoulos C, Kararizou E, Manta P, Udd B.

J Neuromuscul Dis. 2016 May 27;3(2):283-288.

PMID:
27854221
27.

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
28.

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
29.

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
30.

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.

31.

Myofibrillar and distal myopathies.

Palmio J, Udd B.

Rev Neurol (Paris). 2016 Oct;172(10):587-593. doi: 10.1016/j.neurol.2016.07.019. Epub 2016 Sep 13. Review.

PMID:
27638134
32.

Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.

Tasca G, Fattori F, Monforte M, Hedberg-Oldfors C, Sabatelli M, Udd B, Boldrini R, Bertini E, Ricci E, Oldfors A.

J Neurol. 2016 Oct;263(10):2133-5. doi: 10.1007/s00415-016-8268-z. Epub 2016 Aug 20. No abstract available.

PMID:
27544502
33.

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.

34.

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sampaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V.

Neurology. 2016 Jul 5;87(1):71-6. doi: 10.1212/WNL.0000000000002800. Epub 2016 Jun 8. Erratum in: Neurology. 2018 Jun 5;90(23):1084.

35.

Evolving neuromuscular phenotype in a patient with a heterozygous CHCHD10 p.G66V mutation.

Jokela ME, Joutsa J, Udd B.

J Neurol. 2016 Jul;263(7):1461-2. doi: 10.1007/s00415-016-8134-z. Epub 2016 May 13. No abstract available.

PMID:
27177996
36.

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.

37.

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.

38.

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.

Freyermuth F, Rau F, Kokunai Y, Linke T, Sellier C, Nakamori M, Kino Y, Arandel L, Jollet A, Thibault C, Philipps M, Vicaire S, Jost B, Udd B, Day JW, Duboc D, Wahbi K, Matsumura T, Fujimura H, Mochizuki H, Deryckere F, Kimura T, Nukina N, Ishiura S, Lacroix V, Campan-Fournier A, Navratil V, Chautard E, Auboeuf D, Horie M, Imoto K, Lee KY, Swanson MS, Lopez de Munain A, Inada S, Itoh H, Nakazawa K, Ashihara T, Wang E, Zimmer T, Furling D, Takahashi MP, Charlet-Berguerand N.

Nat Commun. 2016 Apr 11;7:11067. doi: 10.1038/ncomms11067.

39.

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.

40.

Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.

Sandell S, Huovinen S, Palmio J, Raheem O, Lindfors M, Zhao F, Haapasalo H, Udd B.

Acta Neuropathol Commun. 2016 Feb 5;4:9. doi: 10.1186/s40478-016-0276-9.

41.

Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy.

Pareyson D, Fratta P, Pradat PF, Sorarù G, Finsterer J, Vissing J, Jokela ME, Udd B, Ludolph AC, Sagnelli A, Weydt P.

J Mol Neurosci. 2016 Mar;58(3):394-400. doi: 10.1007/s12031-015-0704-5. Epub 2016 Jan 7.

PMID:
26744358
42.

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.

43.

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
44.

Targeted next-generation sequencing assay for detection of mutations in primary myopathies.

Evilä A, Arumilli M, Udd B, Hackman P.

Neuromuscul Disord. 2016 Jan;26(1):7-15. doi: 10.1016/j.nmd.2015.10.003. Epub 2015 Nov 25.

PMID:
26627873
45.

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.

De Cid R, Ben Yaou R, Roudaut C, Charton K, Baulande S, Leturcq F, Romero NB, Malfatti E, Beuvin M, Vihola A, Criqui A, Nelson I, Nectoux J, Ben Aim L, Caloustian C, Olaso R, Udd B, Bonne G, Eymard B, Richard I.

Neurology. 2015 Dec 15;85(24):2126-35. doi: 10.1212/WNL.0000000000002200. Epub 2015 Nov 18.

46.

Diagnostic Clinical, Electrodiagnostic and Muscle Pathology Features of Spinal and Bulbar Muscular Atrophy.

Jokela ME, Udd B.

J Mol Neurosci. 2016 Mar;58(3):330-4. doi: 10.1007/s12031-015-0684-5. Epub 2015 Nov 16. Review.

PMID:
26572533
47.

Myofibrillar myopathies: State of the art, present and future challenges.

Béhin A, Salort-Campana E, Wahbi K, Richard P, Carlier RY, Carlier P, Laforêt P, Stojkovic T, Maisonobe T, Verschueren A, Franques J, Attarian S, Maues de Paula A, Figarella-Branger D, Bécane HM, Nelson I, Duboc D, Bonne G, Vicart P, Udd B, Romero N, Pouget J, Eymard B.

Rev Neurol (Paris). 2015 Oct;171(10):715-29. doi: 10.1016/j.neurol.2015.06.002. Epub 2015 Sep 3. Review.

PMID:
26342832
48.

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
49.

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
50.

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.

Bucelli RC, Arhzaouy K, Pestronk A, Pittman SK, Rojas L, Sue CM, Evilä A, Hackman P, Udd B, Harms MB, Weihl CC.

Neurology. 2015 Aug 25;85(8):665-74. doi: 10.1212/WNL.0000000000001864. Epub 2015 Jul 24.

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