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Items: 1 to 50 of 107

1.

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network.

Orphanet J Rare Dis. 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x.

2.

A water-filled garment to protect astronauts during interplanetary missions tested on board the ISS.

Baiocco G, Giraudo M, Bocchini L, Barbieri S, Locantore I, Brussolo E, Giacosa D, Meucci L, Steffenino S, Ballario A, Barresi B, Barresi R, Benassai M, Ravagnolo L, Narici L, Rizzo A, Carrubba E, Carubia F, Neri G, Crisconio M, Piccirillo S, Valentini G, Barbero S, Giacci M, Lobascio C, Ottolenghi A.

Life Sci Space Res (Amst). 2018 Aug;18:1-11. doi: 10.1016/j.lssr.2018.04.002. Epub 2018 Apr 26.

3.

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population.

Johnson K, De Ridder W, Töpf A, Bertoli M, Phillips L, De Jonghe P, Baets J, Deconinck T, Rakocevic Stojanovic V, Perić S, Durmus H, Jamal-Omidi S, Nafissi S, Mongini T, Łusakowska A, Busby M, Miller J, Norwood F, Hudson J, Barresi R, Lek M, MacArthur DG, Straub V.

J Neurol Neurosurg Psychiatry. 2019 Apr;90(4):490-493. doi: 10.1136/jnnp-2018-318288. Epub 2018 Jun 19. No abstract available.

4.

Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.

Sarkozy A, Torelli S, Mein R, Henderson M, Phadke R, Feng L, Sewry C, Ala P, Yau M, Bertoli M, Willis T, Hammans S, Manzur A, Sframeli M, Norwood F, Rakowicz W, Radunovic A, Vaidya SS, Parton M, Walker M, Marino S, Offiah C, Farrugia ME, Mamutse G, Marini-Bettolo C, Wraige E, Beeson D, Lochmüller H, Straub V, Bushby K, Barresi R, Muntoni F.

J Neurol Neurosurg Psychiatry. 2018 Jul;89(7):762-768. doi: 10.1136/jnnp-2017-316956. Epub 2018 Feb 3.

PMID:
29437916
5.

MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes.

Harris E, Marini-Bettolo C, Töpf A, Barresi R, Polvikoski T, Bailey G, Charlton R, Tellez J, MacArthur D, Guglieri M, Lochmüller H, Bushby K, Straub V.

Neuromuscul Disord. 2018 Jan;28(1):48-53. doi: 10.1016/j.nmd.2017.09.017. Epub 2017 Oct 12. Review.

PMID:
29128256
6.

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.

Harris E, Topf A, Barresi R, Hudson J, Powell H, Tellez J, Hicks D, Porter A, Bertoli M, Evangelista T, Marini-Betollo C, Magnússon Ó, Lek M, MacArthur D, Bushby K, Lochmüller H, Straub V.

Orphanet J Rare Dis. 2017 Sep 6;12(1):151. doi: 10.1186/s13023-017-0699-9.

7.

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
8.

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

Harris E, Burki U, Marini-Bettolo C, Neri M, Scotton C, Hudson J, Bertoli M, Evangelista T, Vroling B, Polvikoski T, Roberts M, Töpf A, Bushby K, McArthur D, Lochmüller H, Ferlini A, Straub V, Barresi R.

Neuromuscul Disord. 2017 Sep;27(9):861-872. doi: 10.1016/j.nmd.2017.05.002. Epub 2017 May 4.

PMID:
28624464
9.

Calpainopathy with macrophage-rich, regional inflammatory infiltrates.

Schutz PW, Scalco RS, Barresi R, Houlden H, Parton M, Holton JL.

Neuromuscul Disord. 2017 Aug;27(8):738-741. doi: 10.1016/j.nmd.2017.04.012. Epub 2017 Apr 27.

PMID:
28602176
10.

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.

Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araújo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J.

Am J Hum Genet. 2017 Mar 2;100(3):523-536. doi: 10.1016/j.ajhg.2017.01.024. Epub 2017 Feb 9.

11.

Demyelination patterns in a mathematical model of multiple sclerosis.

Lombardo MC, Barresi R, Bilotta E, Gargano F, Pantano P, Sammartino M.

J Math Biol. 2017 Aug;75(2):373-417. doi: 10.1007/s00285-016-1087-0. Epub 2016 Dec 30.

PMID:
28039494
12.

Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.

Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmüller H, Brais B, Laporte J, Tétreault M.

Brain. 2017 Jan;140(1):37-48. doi: 10.1093/brain/aww257. Epub 2016 Nov 5.

13.

Dysferlin mutations and mitochondrial dysfunction.

Vincent AE, Rosa HS, Alston CL, Grady JP, Rygiel KA, Rocha MC, Barresi R, Taylor RW, Turnbull DM.

Neuromuscul Disord. 2016 Nov;26(11):782-788. doi: 10.1016/j.nmd.2016.08.008. Epub 2016 Aug 29.

14.

Mitochondrial dysfunction in myofibrillar myopathy.

Vincent AE, Grady JP, Rocha MC, Alston CL, Rygiel KA, Barresi R, Taylor RW, Turnbull DM.

Neuromuscul Disord. 2016 Oct;26(10):691-701. doi: 10.1016/j.nmd.2016.08.004. Epub 2016 Aug 10.

15.

Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study.

Steele HE, Harris E, Barresi R, Marsh J, Beattie A, Bourke JP, Straub V, Chinnery PF.

Neurology. 2016 Sep 6;87(10):1031-5. doi: 10.1212/WNL.0000000000003064. Epub 2016 Aug 10.

16.

Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion.

Willis TA, Wood CL, Hudson J, Polvikoski T, Barresi R, Lochmüller H, Bushby K, Straub V.

Clin Genet. 2016 Aug;90(2):166-70. doi: 10.1111/cge.12695. Epub 2016 Jan 8.

PMID:
27409453
17.

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.

Scalco RS, Gardiner AR, Pitceathly RD, Hilton-Jones D, Schapira AH, Turner C, Parton M, Desikan M, Barresi R, Marsh J, Manzur AY, Childs AM, Feng L, Murphy E, Lamont PJ, Ravenscroft G, Wallefeld W, Davis MR, Laing NG, Holton JL, Fialho D, Bushby K, Hanna MG, Phadke R, Jungbluth H, Houlden H, Quinlivan R.

Neuromuscul Disord. 2016 Aug;26(8):504-10. doi: 10.1016/j.nmd.2016.05.006. Epub 2016 May 11.

18.

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.

Vissing J, Barresi R, Witting N, Van Ghelue M, Gammelgaard L, Bindoff LA, Straub V, Lochmüller H, Hudson J, Wahl CM, Arnardottir S, Dahlbom K, Jonsrud C, Duno M.

Brain. 2016 Aug;139(Pt 8):2154-63. doi: 10.1093/brain/aww133. Epub 2016 Jun 3.

PMID:
27259757
19.

The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility.

Mitzelfelt KA, Limphong P, Choi MJ, Kondrat FD, Lai S, Kolander KD, Kwok WM, Dai Q, Grzybowski MN, Zhang H, Taylor GM, Lui Q, Thao MT, Hudson JA, Barresi R, Bushby K, Jungbluth H, Wraige E, Geurts AM, Benesch JL, Riedel M, Christians ES, Minella AC, Benjamin IJ.

J Biol Chem. 2016 Jul 15;291(29):14939-53. doi: 10.1074/jbc.M116.730481. Epub 2016 May 19.

20.

HIV-1 RNA quantification in CRF02_AG HIV-1 infection: too easy to make mistakes.

Tatarelli P, Taramasso L, Di Biagio A, Sticchi L, Nigro N, Barresi R, Viscoli C, Bruzzone B.

New Microbiol. 2016 Apr;39(2):150-2.

21.

First external quality assurance program of the Italian HLA-B*57:01 Network assessing the performance of clinical virology laboratories in HLA-B*57:01 testing.

Meini G, Dello Russo C, Allice T, Barresi R, D'Arrigo R, Falasca F, Lipsi MR, Paolucci S, Zanussi S, Antonetti R, Baldanti F, Basaglia G, Bruzzone B, Polilli E, Ghisetti V, Pucillo LP, Turriziani O, Pirazzoli A, Navarra P, Zazzi M.

J Clin Virol. 2016 May;78:1-3. doi: 10.1016/j.jcv.2016.02.020. Epub 2016 Feb 23.

PMID:
26946153
22.

Sodium nitrate alleviates functional muscle ischaemia in patients with Becker muscular dystrophy.

Nelson MD, Rosenberry R, Barresi R, Tsimerinov EI, Rader F, Tang X, Mason O, Schwartz A, Stabler T, Shidban S, Mobaligh N, Hogan S, Elashoff R, Allen JD, Victor RG.

J Physiol. 2015 Dec 1;593(23):5183-200. doi: 10.1113/JP271252. Epub 2015 Nov 2.

23.

Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK.

Figueroa-Bonaparte S, Hudson J, Barresi R, Polvikoski T, Williams T, Töpf A, Harris E, Hilton-Jones D, Petty R, Willis TA, Longman C, Dougan CF, Parton MJ, Hanna MG, Quinlivan R, Farrugia ME, Guglieri M, Bushby K, Straub V, Lochmüller H, Evangelista T.

J Neurol Neurosurg Psychiatry. 2016 Jun;87(6):680-1. doi: 10.1136/jnnp-2015-310362. Epub 2015 Jun 23. No abstract available.

24.

Prevalence of HIV-1 Subtypes and Drug Resistance-Associated Mutations in HIV-1-Positive Treatment-Naive Pregnant Women in Pointe Noire, Republic of the Congo (Kento-Mwana Project).

Bruzzone B, Saladini F, Sticchi L, Mayinda Mboungou FA, Barresi R, Caligiuri P, Calzi A, Zazzi M, Icardi G, Viscoli C, Bisio F.

AIDS Res Hum Retroviruses. 2015 Aug;31(8):837-40. doi: 10.1089/AID.2015.0105. Epub 2015 Jun 2.

PMID:
25970260
25.

Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G.

Barresi R, Morris C, Hudson J, Curtis E, Pickthall C, Bushby K, Davies NP, Straub V.

Neuromuscul Disord. 2015 Apr;25(4):349-52. doi: 10.1016/j.nmd.2014.12.006. Epub 2014 Dec 24.

PMID:
25724973
26.

Feasibility and reproducibility of HIV-1 genotype resistance test in very-low-level viremia.

Bruzzone B, Di Biagio A, Sticchi L, Barresi R, Saladini F, Icardi G, Setti M.

Antimicrob Agents Chemother. 2014 Dec;58(12):7620-1. doi: 10.1128/AAC.03771-14. No abstract available.

27.

A new monoclonal antibody DAG-6F4 against human alpha-dystroglycan reveals reduced core protein in some, but not all, dystroglycanopathy patients.

Humphrey EL, Lacey E, Le LT, Feng L, Sciandra F, Morris CR, Hewitt JE, Holt I, Brancaccio A, Barresi R, Sewry CA, Brown SC, Morris GE.

Neuromuscul Disord. 2015 Jan;25(1):32-42. doi: 10.1016/j.nmd.2014.09.005. Epub 2014 Sep 16.

PMID:
25387694
28.

Dystrophin quantification: Biological and translational research implications.

Anthony K, Arechavala-Gomeza V, Taylor LE, Vulin A, Kaminoh Y, Torelli S, Feng L, Janghra N, Bonne G, Beuvin M, Barresi R, Henderson M, Laval S, Lourbakos A, Campion G, Straub V, Voit T, Sewry CA, Morgan JE, Flanigan KM, Muntoni F.

Neurology. 2014 Nov 25;83(22):2062-9. doi: 10.1212/WNL.0000000000001025. Epub 2014 Oct 29.

29.

A 29-year-old man with difficulty climbing the stairs.

Brady S, Barresi R, Charlton R, Turner C, Holton JL.

Brain Pathol. 2014 Sep;24(5):549-50. doi: 10.1111/bpa.12202. No abstract available.

PMID:
25323671
30.

Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy.

Haberlova J, Mitrović Z, Zarković K, Lovrić D, Barić V, Berlengi L, Bilić K, Fumić K, Kranz K, Huebner A, von der Hagen M, Barresi R, Bushby K, Straub V, Barić I, Lochmüller H.

Neuromuscul Disord. 2014 Nov;24(11):990-2. doi: 10.1016/j.nmd.2014.06.440. Epub 2014 Jul 3.

PMID:
25088310
31.

Genotypic determination of HIV tropism in a cohort of patients perinatally infected with HIV-1 and exposed to antiretroviral therapy.

Di Biagio A, Parisini A, Bruzzone B, Prinapori R, Lauriola M, Paolucci S, Signori A, Barresi R, Icardi G, Calderisi S, Meini G, Dentone C, Cenderello G, Guerra M, Maccabruni A, Rusconi S, Viscoli C.

HIV Clin Trials. 2014 Jan-Feb;15(1):45-50. doi: 10.1310/hct1501-45.

PMID:
24518213
32.

Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping.

Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Janghra N, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F.

JAMA Neurol. 2014 Jan;71(1):32-40. doi: 10.1001/jamaneurol.2013.4908.

PMID:
24217213
33.

Genotypic testing on HIV-1 DNA as a tool to assess HIV-1 co-receptor usage in clinical practice: results from the DIVA study group.

Svicher V, Alteri C, Montano M, Nori A, D'Arrigo R, Andreoni M, Angarano G, Antinori A, Antonelli G, Allice T, Bagnarelli P, Baldanti F, Bertoli A, Borderi M, Boeri E, Bon I, Bruzzone B, Barresi R, Calderisi S, Callegaro AP, Capobianchi MR, Gargiulo F, Castelli F, Cauda R, Ceccherini-Silberstein F, Clementi M, Chirianni A, Colafigli M, D'Arminio Monforte A, De Luca A, Di Biagio A, Di Nicuolo G, Di Perri G, Di Santo F, Fadda G, Galli M, Gennari W, Ghisetti V, Costantini A, Gori A, Gulminetti R, Leoncini F, Maffongelli G, Maggiolo F, Maserati R, Mazzotta F, Meini G, Micheli V, Monno L, Mussini C, Nozza S, Paolucci S, Palù G, Parisi S, Parruti G, Pignataro AR, Quirino T, Re MC, Rizzardini G, Sanguinetti M, Santangelo R, Scaggiante R, Sterrantino G, Turriziani O, Vatteroni ML, Viscoli C, Vullo V, Zazzi M, Lazzarin A, Perno CF.

Infection. 2014 Feb;42(1):61-71. doi: 10.1007/s15010-013-0510-3. Epub 2013 Oct 22.

34.

Exon skipping and gene transfer restore dystrophin expression in human induced pluripotent stem cells-cardiomyocytes harboring DMD mutations.

Dick E, Kalra S, Anderson D, George V, Ritso M, Laval SH, Barresi R, Aartsma-Rus A, Lochmüller H, Denning C.

Stem Cells Dev. 2013 Oct 15;22(20):2714-24. doi: 10.1089/scd.2013.0135. Epub 2013 Jul 5.

35.

Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis.

Harris E, Laval S, Hudson J, Barresi R, De Waele L, Straub V, Lochmüller H, Bushby K, Sarkozy A.

PLoS Curr. 2013 May 21;5. pii: ecurrents.md.37f840ca67f5e722945ecf755f40487e. doi: 10.1371/currents.md.37f840ca67f5e722945ecf755f40487e.

36.

Exon skipping and gene transfer restore dystrophin expression in hiPSC-cardiomyocytes harbouring DMD mutations.

Dick E, Kalra S, Anderson D, George V, Ritson M, Laval S, Barresi R, Aartsma-Rus A, Lochmuller H, Denning C.

Stem Cells Dev. 2013 Jun 21. [Epub ahead of print]

PMID:
23786351
37.

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H.

Hum Mutat. 2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342. Epub 2013 Jun 12.

PMID:
23606453
38.

Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities.

Henderson M, De Waele L, Hudson J, Eagle M, Sewry C, Marsh J, Charlton R, He L, Blakely EL, Horrocks I, Stewart W, Taylor RW, Longman C, Bushby K, Barresi R.

Acta Neuropathol. 2013 Jun;125(6):917-9. doi: 10.1007/s00401-013-1113-x. Epub 2013 Apr 11. No abstract available.

PMID:
23575897
39.

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.

Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer JB, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HC, Horvath R, Straub V, Bushby K, Lochmüller H, Chinnery PF, Sarkozy A.

J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):331-8. doi: 10.1136/jnnp-2012-304728. Epub 2013 Mar 13.

40.

Muscular dystrophy in dysferlin-deficient mouse models.

Hornsey MA, Laval SH, Barresi R, Lochmüller H, Bushby K.

Neuromuscul Disord. 2013 May;23(5):377-87. doi: 10.1016/j.nmd.2013.02.004. Epub 2013 Mar 7. Review.

PMID:
23473732
41.

Tadalafil alleviates muscle ischemia in patients with Becker muscular dystrophy.

Martin EA, Barresi R, Byrne BJ, Tsimerinov EI, Scott BL, Walker AE, Gurudevan SV, Anene F, Elashoff RM, Thomas GD, Victor RG.

Sci Transl Med. 2012 Nov 28;4(162):162ra155. doi: 10.1126/scitranslmed.3004327.

42.

Titin mutation segregates with hereditary myopathy with early respiratory failure.

Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evilä A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF.

Brain. 2012 Jun;135(Pt 6):1695-713. doi: 10.1093/brain/aws102. Epub 2012 May 9.

43.

Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency.

Wood AJ, Müller JS, Jepson CD, Laval SH, Lochmüller H, Bushby K, Barresi R, Straub V.

Hum Mol Genet. 2011 Dec 15;20(24):4879-90. doi: 10.1093/hmg/ddr426. Epub 2011 Sep 15.

PMID:
21926082
44.

From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.

Barresi R.

Skelet Muscle. 2011 Jun 24;1(1):24. doi: 10.1186/2044-5040-1-24.

45.

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.

Sarkozy A, Windpassinger C, Hudson J, Dougan CF, Lecky B, Hilton-Jones D, Eagle M, Charlton R, Barresi R, Lochmüller H, Bushby K, Straub V.

Eur J Hum Genet. 2011 Oct;19(10):1038-44. doi: 10.1038/ejhg.2011.84. Epub 2011 Jun 1.

46.

Progressive dysphagia in limb-girdle muscular dystrophy type 2B.

Walsh R, Hill F, Breslin N, Connolly S, Brett FM, Charlton R, Barresi R, McCabe DJ.

Muscle Nerve. 2011 May;43(5):761-4. doi: 10.1002/mus.22041.

PMID:
21484829
47.

Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies.

Lo HP, Bertini E, Mirabella M, Domazetovska A, Dale RC, Petrini S, D'Amico A, Valente EM, Barresi R, Roberts M, Tozzi G, Tasca G, Cooper ST, Straub V, North KN.

Neuromuscul Disord. 2011 Mar;21(3):194-203. doi: 10.1016/j.nmd.2010.11.015. Epub 2011 Feb 4.

PMID:
21295981
48.

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.

Hicks D, Sarkozy A, Muelas N, Köehler K, Huebner A, Hudson G, Chinnery PF, Barresi R, Eagle M, Polvikoski T, Bailey G, Miller J, Radunovic A, Hughes PJ, Roberts R, Krause S, Walter MC, Laval SH, Straub V, Lochmüller H, Bushby K.

Brain. 2011 Jan;134(Pt 1):171-182. doi: 10.1093/brain/awq294.

49.

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.

Forrest KM, Al-Sarraj S, Sewry C, Buk S, Tan SV, Pitt M, Durward A, McDougall M, Irving M, Hanna MG, Matthews E, Sarkozy A, Hudson J, Barresi R, Bushby K, Jungbluth H, Wraige E.

Neuromuscul Disord. 2011 Jan;21(1):37-40. doi: 10.1016/j.nmd.2010.11.003. Epub 2010 Dec 3.

PMID:
21130652
50.

Calpainopathy presenting as foot drop in a 41 year old.

Burke G, Hillier C, Cole J, Sampson M, Bridges L, Bushby K, Barresi R, Hammans SR.

Neuromuscul Disord. 2010 Jun;20(6):407-10. doi: 10.1016/j.nmd.2010.04.006.

PMID:
20580976

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