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Items: 1 to 50 of 242

1.

Valosin-containing protein-related myopathy and Meige syndrome: just a coincidence or not?

Papadopoulos C, Malfatti E, Anagnostou E, Savarese M, Udd B, Papadimas GK.

Muscle Nerve. 2019 Sep 11. doi: 10.1002/mus.26704. [Epub ahead of print] No abstract available.

PMID:
31509253
2.

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].

3.

New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy.

Al-Tahan S, Weiss L, Yu H, Tang S, Saporta M, Vihola A, Mozaffar T, Udd B, Kimonis V.

Neurol Genet. 2019 Jul 10;5(4):e349. doi: 10.1212/NXG.0000000000000349. eCollection 2019 Aug.

4.

Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy.

Cai S, Gao M, Xi J, Liu Z, Yue D, Wu H, Bi H, Li J, Liang Z, Zhao C, Udd B, Luo S, Lu J.

Neuromuscul Disord. 2019 Aug;29(8):628-633. doi: 10.1016/j.nmd.2019.06.005. Epub 2019 Jun 12.

PMID:
31350120
5.

HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes.

Berardo A, Lornage X, Johari M, Evangelista T, Cejas C, Barroso F, Dubrovsky A, Bui MT, Brochier G, Saccoliti M, Bohm J, Udd B, Laporte J, Romero NB, Taratuto AL.

J Neurol. 2019 Jul 2. doi: 10.1007/s00415-019-09437-3. [Epub ahead of print]

PMID:
31267206
6.

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.

7.

Involuntary movements, vocalizations and cognitive decline.

Sveinsson O, Udd B, Svenningsson P, Gassner C, Engström C, Laffita-Mesa J, Solders G, Hertegård S, Savitcheva I, Jung HH, Tolnay M, Frey BM, Paucar M.

Parkinsonism Relat Disord. 2019 May 29. pii: S1353-8020(19)30250-0. doi: 10.1016/j.parkreldis.2019.05.029. [Epub ahead of print] No abstract available.

PMID:
31153763
8.

1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018.

Udd B, Stenzel W, Oldfors A, Olivé M, Romero N, Lammens M, Kusters B, Sewry C, Goebel HH, Evangelista T.

Neuromuscul Disord. 2019 Jun;29(6):483-485. doi: 10.1016/j.nmd.2019.03.002. Epub 2019 Mar 15. No abstract available.

PMID:
31101462
9.

Oligogenic basis of sporadic ALS: The example of SOD1 p.Ala90Val mutation.

Kuuluvainen L, Kaivola K, Mönkäre S, Laaksovirta H, Jokela M, Udd B, Valori M, Pasanen P, Paetau A, Traynor BJ, Stone DJ, Schleutker J, Pöyhönen M, Tienari PJ, Myllykangas L.

Neurol Genet. 2019 Apr 23;5(3):e335. doi: 10.1212/NXG.0000000000000335. eCollection 2019 Jun.

10.

Salih Myopathy.

Hackman P, Savarese M, Carmignac V, Udd B, Salih MA.

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 Jan 12 [updated 2019 Apr 11].

11.

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy.

Jokela M, Lehtinen S, Palmio J, Saukkonen AM, Huovinen S, Vihola A, Udd B.

J Neurol. 2019 Jul;266(7):1649-1654. doi: 10.1007/s00415-019-09307-y. Epub 2019 Apr 8.

12.

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.

Olivé M, Engvall M, Ravenscroft G, Cabrera-Serrano M, Jiao H, Bortolotti CA, Pignataro M, Lambrughi M, Jiang H, Forrest ARR, Benseny-Cases N, Hofbauer S, Obinger C, Battistuzzi G, Bellei M, Borsari M, Di Rocco G, Viola HM, Hool LC, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges JJ, Malfatti E, Romero NB, Streichenberger N, Vial C, Claeys KG, Straathof CSM, Goris A, Freyer C, Lammens M, Bassez G, Kere J, Clemente P, Sejersen T, Udd B, Vidal N, Ferrer I, Edström L, Wedell A, Laing NG.

Nat Commun. 2019 Mar 27;10(1):1396. doi: 10.1038/s41467-019-09111-2.

13.

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
14.

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
15.

Clinical Reasoning: A 54-year-old man with dyspnea and muscle weakness.

Chertcoff A, Saucedo M, Bandeo L, Pantiu F, León Cejas L, Borsini E, Reisin R, Udd B.

Neurology. 2019 Mar 5;92(10):e1136-e1140. doi: 10.1212/WNL.0000000000007040. No abstract available.

PMID:
30833481
16.

Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4.

Elia N, Palmio J, Castañeda MS, Shieh PB, Quinonez M, Suominen T, Hanna MG, Männikkö R, Udd B, Cannon SC.

Neurology. 2019 Mar 26;92(13):e1405-e1415. doi: 10.1212/WNL.0000000000007185. Epub 2019 Mar 1.

17.

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.

Kiiski KJ, Lehtokari VL, Vihola AK, Laitila JM, Huovinen S, Sagath LJ, Evilä AE, Paetau AE, Sewry CA, Hackman PB, Pelin KB, Wallgren-Pettersson C, Udd B.

Neuromuscul Disord. 2019 Feb;29(2):97-107. doi: 10.1016/j.nmd.2018.12.007. Epub 2018 Dec 20.

PMID:
30679003
18.

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.

19.

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.

Sainio MT, Välipakka S, Rinaldi B, Lapatto H, Paetau A, Ojanen S, Brilhante V, Jokela M, Huovinen S, Auranen M, Palmio J, Friant S, Ylikallio E, Udd B, Tyynismaa H.

J Neurol. 2019 Feb;266(2):353-360. doi: 10.1007/s00415-018-9137-8. Epub 2018 Dec 4.

20.

234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8-10 December 2017.

Weihl CC, Udd B, Hanna M; ENMC workshop study group.

Neuromuscul Disord. 2018 Dec;28(12):1022-1030. doi: 10.1016/j.nmd.2018.09.004. Epub 2018 Sep 25. No abstract available.

21.

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
22.

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies.

Ávila-Polo R, Malfatti E, Lornage X, Cheraud C, Nelson I, Nectoux J, Böhm J, Schneider R, Hedberg-Oldfors C, Eymard B, Monges S, Lubieniecki F, Brochier G, Thao Bui M, Madelaine A, Labasse C, Beuvin M, Lacène E, Boland A, Deleuze JF, Thompson J, Richard I, Taratuto AL, Udd B, Leturcq F, Bonne G, Oldfors A, Laporte J, Romero NB.

J Neuropathol Exp Neurol. 2018 Dec 1;77(12):1101-1114. doi: 10.1093/jnen/nly095.

PMID:
30365001
23.

WITHDRAWN: Novel Xp21.1 deletion associated with unusual features in a large McLeod syndrome kindred.

Sveinsson O, Udd B, Svenningsson P, Gassner C, Engström C, Laffita-Mesa JM, Solders G, Hertegård S, Savitcheva I, Jung HH, Tolnay M, Frey BM, Paucar M.

Parkinsonism Relat Disord. 2018 Oct 8. pii: S1353-8020(18)30399-7. doi: 10.1016/j.parkreldis.2018.09.014. [Epub ahead of print] No abstract available.

PMID:
30305234
24.

Copy number variation analysis increases the diagnostic yield in muscle diseases.

Välipakka S, Savarese M, Johari M, Sagath L, Arumilli M, Kiiski K, Sáenz A, de Munain AL, Cobo AM, Pelin K, Udd B, Hackman P.

Neurol Genet. 2017 Dec 11;3(6):e204. doi: 10.1212/NXG.0000000000000204. eCollection 2017 Dec.

25.

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases.

Genin EC, Bannwarth S, Lespinasse F, Ortega-Vila B, Fragaki K, Itoh K, Villa E, Lacas-Gervais S, Jokela M, Auranen M, Ylikallio E, Mauri-Crouzet A, Tyynismaa H, Vihola A, Augé G, Cochaud C, Sesaki H, Ricci JE, Udd B, Vives-Bauza C, Paquis-Flucklinger V.

Neurobiol Dis. 2018 Nov;119:159-171. doi: 10.1016/j.nbd.2018.07.027. Epub 2018 Aug 6.

PMID:
30092269
26.

229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.

Straub V, Murphy A, Udd B; LGMD workshop study group.

Neuromuscul Disord. 2018 Aug;28(8):702-710. doi: 10.1016/j.nmd.2018.05.007. Epub 2018 May 24. No abstract available.

PMID:
30055862
27.

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders.

Sagath L, Lehtokari VL, Välipakka S, Udd B, Wallgren-Pettersson C, Pelin K, Kiiski K.

J Neuromuscul Dis. 2018;5(3):307-314. doi: 10.3233/JND-170298.

28.

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 Jul;28(7):586-591. doi: 10.1016/j.nmd.2018.03.011. Epub 2018 Apr 9.

PMID:
29880332
29.

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.

30.

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
31.

Congenital Titinopathy: Comprehensive characterization 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 H, 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 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.

32.

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.

33.

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.

34.

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
35.

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.

36.

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
37.

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.

38.

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
39.

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
40.

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.

41.

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
42.

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
43.

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
44.

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
45.

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
46.

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
47.

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.

48.

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
49.

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
50.

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.

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