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Items: 1 to 50 of 93

1.

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.

Owen D, Töpf A, Preethish-Kumar V, Lorenzoni PJ, Vroling B, Scola RH, Dias-Tosta E, Geraldo A, Polavarapu K, Nashi S, Cox D, Evangelista T, Dawson J, Thompson R, Senderek J, Laurie S, Beltran S, Gut M, Gut I, Nalini A, Lochmüller H.

Am J Med Genet A. 2018 Apr 28. doi: 10.1002/ajmg.a.38707. [Epub ahead of print]

PMID:
29704306
2.

Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome.

Alrohaif H, Töpf A, Evangelista T, Lek M, McArthur D, Lochmüller H.

Neurol Genet. 2018 Mar 19;4(2):e226. doi: 10.1212/NXG.0000000000000226. eCollection 2018 Apr. No abstract available.

3.

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.

McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmüller H.

J Neurol. 2018 Jan;265(1):194-203. doi: 10.1007/s00415-017-8689-3. Epub 2017 Nov 30.

4.

Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis.

Badrising UA, Tsonaka R, Hiller M, Niks EH, Evangelista T, Lochmüller H, Verschuuren JJ, Aartsma-Rus A, Spitali P.

J Neuromuscul Dis. 2017;4(4):327-335. doi: 10.3233/JND-170234.

PMID:
29172005
5.

Molecular characterization of congenital myasthenic syndromes in Spain.

Natera-de Benito D, Töpf A, Vilchez JJ, González-Quereda L, Domínguez-Carral J, Díaz-Manera J, Ortez C, Bestué M, Gallano P, Dusl M, Abicht A, Müller JS, Senderek J, García-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodríguez Cruz PM, Camacho A, Jiménez E, Miranda-Herrero MC, Santana-Artiles A, García-Campos O, Dominguez-Rubio R, Olivé M, Colomer J, Beeson D, Lochmüller H, Nascimento A.

Neuromuscul Disord. 2017 Dec;27(12):1087-1098. doi: 10.1016/j.nmd.2017.08.003. Epub 2017 Aug 18.

PMID:
29054425
6.

Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.

Morís G, Wood L, FernáNdez-Torrón R, González Coraspe JA, Turner C, Hilton-Jones D, Norwood F, Willis T, Parton M, Rogers M, Hammans S, Roberts M, Househam E, Williams M, Lochmüller H, Evangelista T.

Muscle Nerve. 2018 Mar;57(3):380-387. doi: 10.1002/mus.25991. Epub 2017 Nov 7.

7.

Co-presentation of adult-onset systemic lupus erythematosus and nemaline myopathy.

Hindocha A, Klimiuk P, Roberts M, Pal P, Evangelista T, Lochmüller H, Chinoy H.

Rheumatology (Oxford). 2017 Nov 1;56(11):2034-2035. doi: 10.1093/rheumatology/kex252. No abstract available.

PMID:
28977494
8.

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.

9.

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
10.

Screening for Pompe disease in a Portuguese high risk population.

Almeida V, Conceição I, Fineza I, Coelho T, Silveira F, Santos M, Valverde A, Geraldo A, Maré R, Aguiar TC, Mendonça C, Martins J, Medeiros L, Barroso C, Vieira JP, Moreno T, Negrão L, Dias MS, Lacerda L, Evangelista T.

Neuromuscul Disord. 2017 Aug;27(8):777-781. doi: 10.1016/j.nmd.2017.03.010. Epub 2017 Mar 29.

PMID:
28554557
11.

Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy.

Moreira S, Wood L, Smith D, Marini-Bettolo C, Guglieri M, McMacken G, Bailey G, Mayhew A, Muni-Lofra R, Eglon G, Williams M, Straub V, Lochmüller H, Evangelista T.

J Neurol. 2017 Jun;264(6):1271-1280. doi: 10.1007/s00415-017-8525-9. Epub 2017 May 26.

12.

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes.

Azuma Y, Töpf A, Evangelista T, Lorenzoni PJ, Roos A, Viana P, Inagaki H, Kurahashi H, Lochmüller H.

Neurol Genet. 2017 May 3;3(3):e152. doi: 10.1212/NXG.0000000000000152. eCollection 2017 Jun.

13.

The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes.

McMacken G, Abicht A, Evangelista T, Spendiff S, Lochmüller H.

Neuropediatrics. 2017 Aug;48(4):294-308. doi: 10.1055/s-0037-1602832. Epub 2017 May 15. Review. No abstract available.

PMID:
28505670
14.

Electrochemical and Morphological Investigations of Ga Addition to Pt Electrocatalyst Supported on Carbon.

Paganoto GT, Santos DM, Evangelista TCS, Guimarães MCC, Carneiro MTWD, Ribeiro J.

ScientificWorldJournal. 2017;2017:8786013. doi: 10.1155/2017/8786013. Epub 2017 Mar 29.

15.

Genetic heterogeneity of motor neuropathies.

Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmüller H, Chinnery PF, Horvath R.

Neurology. 2017 Mar 28;88(13):1226-1234. doi: 10.1212/WNL.0000000000003772. Epub 2017 Mar 1.

16.

How the EUCERD Joint Action supported initiatives on Rare Diseases.

Lynn S, Hedley V, Atalaia A, Evangelista T, Bushby K; EUCERD Joint Action.

Eur J Med Genet. 2017 Mar;60(3):185-189. doi: 10.1016/j.ejmg.2017.01.002. Epub 2017 Jan 10. Review.

PMID:
28087401
17.

Reduced serum myostatin concentrations associated with genetic muscle disease progression.

Burch PM, Pogoryelova O, Palandra J, Goldstein R, Bennett D, Fitz L, Guglieri M, Bettolo CM, Straub V, Evangelista T, Neubert H, Lochmüller H, Morris C.

J Neurol. 2017 Mar;264(3):541-553. doi: 10.1007/s00415-016-8379-6. Epub 2017 Jan 10.

PMID:
28074267
18.

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands.

Evangelista T, Weihl CC, Kimonis V, Lochmüller H; VCP related diseases Consortium.

Neuromuscul Disord. 2016 Aug;26(8):535-47. doi: 10.1016/j.nmd.2016.05.017. Epub 2016 May 30. No abstract available.

PMID:
27312024
19.

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.

O'Connor E, Töpf A, Müller JS, Cox D, Evangelista T, Colomer J, Abicht A, Senderek J, Hasselmann O, Yaramis A, Laval SH, Lochmüller H.

Brain. 2016 Aug;139(Pt 8):2143-53. doi: 10.1093/brain/aww130. Epub 2016 Jun 3.

20.

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

Lukacs Z, Nieves Cobos P, Wenninger S, Willis TA, Guglieri M, Roberts M, Quinlivan R, Hilton-Jones D, Evangelista T, Zierz S, Schlotter-Weigel B, Walter MC, Reilich P, Klopstock T, Deschauer M, Straub V, Müller-Felber W, Schoser B.

Neurology. 2016 Jul 19;87(3):295-8. doi: 10.1212/WNL.0000000000002758. Epub 2016 May 11.

21.

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.

Evangelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, Hudson J, Norwood F, Orrell R, Willis T, Hilton-Jones D, Rafferty K, Guglieri M, Lochmüller H.

J Neurol. 2016 Jul;263(7):1401-8. doi: 10.1007/s00415-016-8132-1. Epub 2016 May 9.

22.

The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks.

Evangelista T, Hedley V, Atalaia A, Johnson M, Lynn S, Le Cam Y, Bushby K.

Orphanet J Rare Dis. 2016 Feb 24;11:17. doi: 10.1186/s13023-016-0398-y.

23.

Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness.

Evangelista T, Hanna M, Lochmüller H.

J Neuromuscul Dis. 2015 Jul 22;2(Suppl 2):S21-S29.

24.

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.

Natera-de Benito D, Bestué M, Vilchez JJ, Evangelista T, Töpf A, García-Ribes A, Trujillo-Tiebas MJ, García-Hoyos M, Ortez C, Camacho A, Jiménez E, Dusl M, Abicht A, Lochmüller H, Colomer J, Nascimento A.

Neuromuscul Disord. 2016 Feb;26(2):153-9. doi: 10.1016/j.nmd.2015.10.013. Epub 2015 Nov 23.

PMID:
26782015
25.

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.

Natera-de Benito D, Nascimento A, Abicht A, Ortez C, Jou C, Müller JS, Evangelista T, Töpf A, Thompson R, Jimenez-Mallebrera C, Colomer J, Lochmüller H.

J Neurol. 2016 Mar;263(3):517-23. doi: 10.1007/s00415-015-8015-x. Epub 2016 Jan 11.

PMID:
26754003
26.

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.

27.

Phenotypic variability of TRPV4 related neuropathies.

Evangelista T, Bansagi B, Pyle A, Griffin H, Douroudis K, Polvikoski T, Antoniadi T, Bushby K, Straub V, Chinnery PF, Lochmüller H, Horvath R.

Neuromuscul Disord. 2015 Jun;25(6):516-21. doi: 10.1016/j.nmd.2015.03.007. Epub 2015 Mar 18.

28.

New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.

Santos R, Gonçalves A, Oliveira J, Vieira E, Vieira JP, Evangelista T, Moreno T, Santos M, Fineza I, Bronze-da-Rocha E.

J Hum Genet. 2014 Aug;59(8):454-64. doi: 10.1038/jhg.2014.54. Epub 2014 Jul 10.

PMID:
25007885
29.

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H.

Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20.

PMID:
24951643
30.

Centres of Expertise and European Reference Networks: key issues in the field of rare diseases. The EUCERD Recommendations.

Taruscio D, Gentile AE, Evangelista T, Frazzica RG, Bushby K, Montserrat AM.

Blood Transfus. 2014 Apr;12 Suppl 3:s621-5. doi: 10.2450/2014.0026-14s.

31.

200th ENMC International Workshop "European reference networks: recommendations and criteria in the neuromuscular field", 18-20 October 2013, Naarden, The Netherlands.

Evangelista T, van Engelen B, Bushby K.

Neuromuscul Disord. 2014 Jun;24(6):537-45. doi: 10.1016/j.nmd.2014.03.005. Epub 2014 Mar 15. No abstract available.

PMID:
24731389
32.

Two recurrent mutations are associated with GNE myopathy in the North of Britain.

Chaouch A, Brennan KM, Hudson J, Longman C, McConville J, Morrison PJ, Farrugia ME, Petty R, Stewart W, Norwood F, Horvath R, Chinnery PF, Costigan D, Winer J, Polvikoski T, Healy E, Sarkozy A, Evangelista T, Pogoryelova O, Eagle M, Bushby K, Straub V, Lochmüller H.

J Neurol Neurosurg Psychiatry. 2014 Dec;85(12):1359-65. doi: 10.1136/jnnp-2013-306314. Epub 2014 Apr 2.

PMID:
24695763
33.

Atypical phenotype in two patients with LAMA2 mutations.

Marques J, Duarte ST, Costa S, Jacinto S, Oliveira J, Oliveira ME, Santos R, Bronze-da-Rocha E, Silvestre AR, Calado E, Evangelista T.

Neuromuscul Disord. 2014 May;24(5):419-24. doi: 10.1016/j.nmd.2014.01.004. Epub 2014 Jan 25.

PMID:
24534542
34.

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.

Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, De Grassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Müller JS, Evangelista T, Töpf A, Abicht A, Huebner A, von der Hagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmüller H.

J Neuromuscul Dis. 2014;1(1):75-90.

35.

The impact and perception of nursing certification in pediatric nursing.

Straka KL, Ambrose HL, Burkett M, Capan M, Flook D, Evangelista T, Houck P, Lukanski A, Schenkel K, Thornton M.

J Pediatr Nurs. 2014 May-Jun;29(3):205-11. doi: 10.1016/j.pedn.2013.10.010. Epub 2013 Oct 31.

PMID:
24263250
36.

Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene.

Antunes AP, Nogueira C, Rocha H, Vilarinho L, Evangelista T.

J Clin Neuromuscul Dis. 2013 Dec;15(2):69-72. doi: 10.1097/CND.0000000000000012.

PMID:
24263034
37.

Nursing portfolio study: the use in annual performance reviews.

Capan ML, Ambrose HL, Burkett M, Evangelista TR, Flook DM, Straka KL.

J Nurses Prof Dev. 2013 Jul-Aug;29(4):182-5. doi: 10.1097/NND.0b013e31829aec0f.

PMID:
23877288
38.

A family with 2 different hereditary diseases leading to early cardiac involvement.

Nzwalo H, Conceição I, Pereira P, Santos R, Evangelista T.

J Clin Neuromuscul Dis. 2013 Jun;14(4):204-8. doi: 10.1097/CND.0b013e31829082c3.

PMID:
23703017
39.

Nursing benefits of using an automated injection system for ictal brain single photon emission computed tomography.

Vonhofen G, Evangelista T, Lordeon P.

J Neurosci Nurs. 2012 Apr;44(2):91-5; quiz 96-7. doi: 10.1097/JNN.0b013e3182477a78.

PMID:
22367271
40.

Liver and muscle in morbid obesity: the interplay of fatty liver and insulin resistance.

Machado MV, Ferreira DM, Castro RE, Silvestre AR, Evangelista T, Coutinho J, Carepa F, Costa A, Rodrigues CM, Cortez-Pinto H.

PLoS One. 2012;7(2):e31738. doi: 10.1371/journal.pone.0031738. Epub 2012 Feb 16.

41.

Nonfunctional middle mediastinal paraganglioma: diagnostic and surgical management.

Fatureto MC, Santos JP, Marques EG, Evangelista TB, Costa WA.

J Bras Pneumol. 2011 Sep-Oct;37(5):700-2. English, Portuguese. No abstract available.

42.

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.

Duarte ST, Oliveira J, Santos R, Pereira P, Barroso C, Conceição I, Evangelista T.

Muscle Nerve. 2011 Jul;44(1):102-8. doi: 10.1002/mus.22009. Review.

PMID:
21674524
43.

Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations.

Ferreira M, Evangelista T, Almeida LS, Martins J, Macario MC, Martins E, Moleirinho A, Azevedo L, Vilarinho L, Santorelli FM.

Neuromuscul Disord. 2011 Jul;21(7):483-8. doi: 10.1016/j.nmd.2011.03.011. Epub 2011 May 7.

PMID:
21550804
44.

Macrophagic myofasciitis: a case report of autoimmune/inflammatory syndrome induced by adjuvants (ASIA).

Polido Pereira J, Barroso C, Evangelista T, Fonseca JE, Pereira da Silva JA.

Acta Reumatol Port. 2011 Jan-Mar;36(1):75-6. No abstract available.

45.

Apoptosis and insulin resistance in liver and peripheral tissues of morbidly obese patients is associated with different stages of non-alcoholic fatty liver disease.

Ferreira DM, Castro RE, Machado MV, Evangelista T, Silvestre A, Costa A, Coutinho J, Carepa F, Cortez-Pinto H, Rodrigues CM.

Diabetologia. 2011 Jul;54(7):1788-98. doi: 10.1007/s00125-011-2130-8. Epub 2011 Apr 1.

PMID:
21455726
46.

Acquired amyloid neuropathy in a Portuguese patient after domino liver transplantation.

Conceição I, Evangelista T, Castro J, Pereira P, Silvestre A, Coutinho CA, de Carvalho M.

Muscle Nerve. 2010 Nov;42(5):836-9. doi: 10.1002/mus.21806.

PMID:
20928908
47.

[Pulmonary disease in polymyositis].

Hasmucrai D, Mendes AC, Correia I, Evangelista T, Bugalho de Almeida A.

Rev Port Pneumol. 2010 Jul-Aug;16(4):671-7. Portuguese.

48.

Intracerebral amyloidoma: case report and review of the literature.

Foreid H, Barroso C, Evangelista T, Campos A, Pimentel J.

Clin Neuropathol. 2010 Jul-Aug;29(4):217-22. Review.

PMID:
20569671
49.

A randomized, placebo-controlled trial of memantine for functional disability in amyotrophic lateral sclerosis.

de Carvalho M, Pinto S, Costa J, Evangelista T, Ohana B, Pinto A.

Amyotroph Lateral Scler. 2010 Oct;11(5):456-60. doi: 10.3109/17482968.2010.498521.

PMID:
20565333
50.

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.

Santos R, Oliveira J, Vieira E, Coelho T, Carneiro AL, Evangelista T, Dias C, Fortuna A, Geraldo A, Negrão L, Guimarães A, Bronze-da-Rocha E.

J Hum Genet. 2010 Aug;55(8):546-9. doi: 10.1038/jhg.2010.60. Epub 2010 Jun 10.

PMID:
20535123

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