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Items: 42

1.

MRI of the anterior compartment of the lower leg is a biomarker for weakness, disability and impaired gait in childhood Charcot-Marie-Tooth disease.

Cornett KM, Wojciechowski E, Sman AD, Walker T, Menezes MP, Bray P, Halaki M, Burns J; FAST Study Group.

Muscle Nerve. 2018 Sep 28. doi: 10.1002/mus.26352. [Epub ahead of print]

PMID:
30265406
2.

Intranasal Osteosarcoma in a Dog-A Case Report.

de Toledo GN, Reina Moreira PR, Rolemberg DS, Facin AC, Hough Monteiro JE, Menezes MP, Bastos Andrade Moutinho da Conceição ME, Ruiz Sueiro FA, Oliveira Vasconcelos R, Castro Moraes P, Costa MT, de Nardi AB.

Top Companion Anim Med. 2018 Jun;33(2):35-39. doi: 10.1053/j.tcam.2018.04.001. Epub 2018 Apr 23.

PMID:
30236408
3.

Safety and efficacy of progressive resistance exercise for Charcot-Marie-Tooth disease in children: a randomised, double-blind, sham-controlled trial.

Burns J, Sman AD, Cornett KMD, Wojciechowski E, Walker T, Menezes MP, Mandarakas MR, Rose KJ, Bray P, Sampaio H, Farrar M, Refshauge KM, Raymond J; FAST Study Group.

Lancet Child Adolesc Health. 2017 Oct;1(2):106-113. doi: 10.1016/S2352-4642(17)30013-5. Epub 2017 Jul 10.

PMID:
30169201
4.

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.

Woodcock IR, Menezes MP, Coleman L, Yaplito-Lee J, Peters H, White SM, Stapleton R, Phelan DG, Chong B, Lunke S, Stark Z, Pitt J, Ryan MM, Robertson C, Yiu EM.

Semin Pediatr Neurol. 2018 Jul;26:2-9. doi: 10.1016/j.spen.2017.03.001. Epub 2017 Apr 5.

PMID:
29961509
5.

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Kothur K, Holman K, Farnsworth E, Ho G, Lorentzos M, Troedson C, Gupta S, Webster R, Procopis PG, Menezes MP, Antony J, Ardern-Holmes S, Dale RC, Christodoulou J, Gill D, Bennetts B.

Seizure. 2018 Jul;59:132-140. doi: 10.1016/j.seizure.2018.05.005. Epub 2018 May 28.

PMID:
29852413
6.

Unique clinical and neurophysiologic profile of a cohort of children with CMTX3.

Kanhangad M, Cornett K, Brewer MH, Nicholson GA, Ryan MM, Smith RL, Subramanian GM, Young HK, Züchner S, Kennerson ML, Burns J, Menezes MP.

Neurology. 2018 May 8;90(19):e1706-e1710. doi: 10.1212/WNL.0000000000005479. Epub 2018 Apr 6.

PMID:
29626178
7.

Nusinersen for SMA: expanded access programme.

Farrar MA, Teoh HL, Carey KA, Cairns A, Forbes R, Herbert K, Holland S, Jones KJ, Menezes MP, Morrison M, Munro K, Villano D, Webster R, Woodcock IR, Yiu EM, Sampaio H, Ryan MM.

J Neurol Neurosurg Psychiatry. 2018 Sep;89(9):937-942. doi: 10.1136/jnnp-2017-317412. Epub 2018 Mar 16.

PMID:
29549190
8.

Functional outcome measures for infantile Charcot-Marie-Tooth disease: a systematic review.

Mandarakas MR, Rose KJ, Sanmaneechai O, Menezes MP, Refshauge KM, Burns J.

J Peripher Nerv Syst. 2018 Jun;23(2):99-107. doi: 10.1111/jns.12258. Epub 2018 Mar 23.

PMID:
29521025
9.

Established and novel measures of upper limb impairment in children with Charcot-Marie-tooth disease type 1A and riboflavin transporter deficiency type 2.

Cornett KMD, Menezes MP, Bray P, Halaki M, Burns J.

J Peripher Nerv Syst. 2018 Mar;23(1):29-35. doi: 10.1111/jns.12245. Epub 2017 Dec 11.

PMID:
29168276
10.

Natural history of Charcot-Marie-Tooth disease during childhood.

Cornett KMD, Menezes MP, Shy RR, Moroni I, Pagliano E, Pareyson D, Estilow T, Yum SW, Bhandari T, Muntoni F, Laura M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Bray P, Halaki M, Shy ME, Burns J; CMTPedS Study Group.

Ann Neurol. 2017 Sep;82(3):353-359. doi: 10.1002/ana.25009.

PMID:
28796392
11.

Gait patterns of children and adolescents with Charcot-Marie-Tooth disease.

Wojciechowski E, Sman A, Cornett K, Raymond J, Refshauge K, Menezes MP, Burns J; FAST Study Group.

Gait Posture. 2017 Jul;56:89-94. doi: 10.1016/j.gaitpost.2017.05.005. Epub 2017 May 8.

PMID:
28527386
12.

Genetic diversity and patterns of population structure in Creole goats from the Americas.

Ginja C, Gama LT, Martínez A, Sevane N, Martin-Burriel I, Lanari MR, Revidatti MA, Aranguren-Méndez JA, Bedotti DO, Ribeiro MN, Sponenberg P, Aguirre EL, Alvarez-Franco LA, Menezes MPC, Chacón E, Galarza A, Gómez-Urviola N, Martínez-López OR, Pimenta-Filho EC, da Rocha LL, Stemmer A, Landi V, Delgado-Bermejo JV.

Anim Genet. 2017 Jun;48(3):315-329. doi: 10.1111/age.12529. Epub 2017 Jan 17.

PMID:
28094449
13.

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.

Menezes MP, Rahman S, Bhattacharya K, Clark D, Christodoulou J, Ellaway C, Farrar M, Pitt M, Sampaio H, Ware TL, Wedatilake Y, Thorburn DR, Ryan MM, Ouvrier R.

Mitochondrion. 2016 Sep;30:162-7. doi: 10.1016/j.mito.2016.07.014. Epub 2016 Jul 27.

PMID:
27475922
14.

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.

Brewer MH, Chaudhry R, Qi J, Kidambi A, Drew AP, Menezes MP, Ryan MM, Farrar MA, Mowat D, Subramanian GM, Young HK, Zuchner S, Reddel SW, Nicholson GA, Kennerson ML.

PLoS Genet. 2016 Jul 20;12(7):e1006177. doi: 10.1371/journal.pgen.1006177. eCollection 2016 Jul.

15.

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.

Cornett KM, Menezes MP, Bray P, Halaki M, Shy RR, Yum SW, Estilow T, Moroni I, Foscan M, Pagliano E, Pareyson D, Laurá M, Bhandari T, Muntoni F, Reilly MM, Finkel RS, Sowden J, Eichinger KJ, Herrmann DN, Shy ME, Burns J; Inherited Neuropathies Consortium.

JAMA Neurol. 2016 Jun 1;73(6):645-51. doi: 10.1001/jamaneurol.2016.0171.

16.

Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.

Menezes MP, O'Brien K, Hill M, Webster R, Antony J, Ouvrier R, Birman C, Gardner-Berry K.

Dev Med Child Neurol. 2016 Aug;58(8):848-54. doi: 10.1111/dmcn.13084. Epub 2016 Feb 25.

17.

Eye movement disorders are an early manifestation of CACNA1A mutations in children.

Tantsis EM, Gill D, Griffiths L, Gupta S, Lawson J, Maksemous N, Ouvrier R, Riant F, Smith R, Troedson C, Webster R, Menezes MP.

Dev Med Child Neurol. 2016 Jun;58(6):639-44. doi: 10.1111/dmcn.13033. Epub 2016 Jan 27.

18.

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.

O'Grady GL, Ma A, Sival D, Wong MT, Peduto T, Menezes MP, Young H, Waddell L, Ghaoui R, Needham M, Lek M, North KN, MacArthur DG, van Ravenswaaij-Arts CM, Clarke NF.

Eur J Hum Genet. 2016 Aug;24(8):1216-9. doi: 10.1038/ejhg.2015.276. Epub 2016 Jan 27.

19.

Evaluation of the Safety and Efficacy of the Novel Svelte Acrobat Integrated Delivery System via Radial Approach With 5 Fr Catheters.

Devito FS, Andrade PB, Silva CE, Menezes MP, Abizaid A, Costa Jde R Jr, Costa RA, Sousa AG.

J Invasive Cardiol. 2015 Dec;27(12):E312-8. Epub 2015 Aug 25.

20.

Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter.

Menezes MP, Farrar MA, Webster R, Antony J, O'Brien K, Ouvrier R, Kiernan MC, Burns J, Vucic S.

Clin Neurophysiol. 2016 Jan;127(1):911-918. doi: 10.1016/j.clinph.2015.05.012. Epub 2015 Jun 3.

PMID:
26092362
21.

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzales MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN.

Brain. 2015 Nov;138(Pt 11):e392. doi: 10.1093/brain/awv160. Epub 2015 Jun 10. No abstract available.

22.

Systematic review of exercise for Charcot-Marie-Tooth disease.

Sman AD, Hackett D, Fiatarone Singh M, Fornusek C, Menezes MP, Burns J.

J Peripher Nerv Syst. 2015 Dec;20(4):347-62. doi: 10.1111/jns.12116. Review.

PMID:
26010435
23.

Response.

Menezes MP, Waddell L, Lenk GM, Kaur S, MacArthur DG, Meisler MH, Clarke NF.

Neuromuscul Disord. 2015 Apr;25(4):360. doi: 10.1016/j.nmd.2014.12.008. Epub 2014 Dec 29. No abstract available.

PMID:
25617004
24.

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.

Guo Y, Menezes MJ, Menezes MP, Liang J, Li D, Riley LG, Clarke NF, Andrews PI, Tian L, Webster R, Wang F, Liu X, Shen Y, Thorburn DR, Keating BJ, Engel A, Hakonarson H, Christodoulou J, Xu X.

Neuromuscul Disord. 2015 Mar;25(3):257-61. doi: 10.1016/j.nmd.2014.11.017. Epub 2014 Dec 10.

25.

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN.

Brain. 2015 Feb;138(Pt 2):293-310. doi: 10.1093/brain/awu356. Epub 2014 Dec 14.

26.

Isolation of microsatellite markers for the red mangrove, Rhizophora mangle (Rhizophoraceae).

Ribeiro DO, Vinson CC, Nascimento DS, Mehlig U, Menezes MP, Sampaio I, Silva MB.

Appl Plant Sci. 2013 Sep 2;1(9). pii: apps.1300003. doi: 10.3732/apps.1300003. eCollection 2013 Sep.

27.

Higher level of IL-6 in Jaccoud's arthropathy secondary to systemic lupus erythematosus: a perspective for its treatment?

Atta AM, Oliveira RC, Oliveira IS, Menezes MP, Santos TP, Sousa Atta ML, Santiago MB.

Rheumatol Int. 2015 Jan;35(1):167-70. doi: 10.1007/s00296-014-3069-0. Epub 2014 Jun 18.

PMID:
24939558
28.

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

Menezes MP, Waddell L, Lenk GM, Kaur S, MacArthur DG, Meisler MH, Clarke NF.

Neuromuscul Disord. 2014 Aug;24(8):666-70. doi: 10.1016/j.nmd.2014.04.010. Epub 2014 May 4.

29.

Randomised controlled trial protocol of foot and ankle exercise for children with Charcot-Marie-Tooth disease.

Sman AD, Raymond J, Refshauge KM, Menezes MP, Walker T, Ouvrier RA, Burns J.

J Physiother. 2014 Mar;60(1):55; discussion 55. doi: 10.1016/j.jphys.2013.12.015. Epub 2014 May 9.

30.

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

Rice GI, Del Toro Duany Y, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G, Bader-Meunier B, Baildam EM, Battini R, Beresford MW, Casarano M, Chouchane M, Cimaz R, Collins AE, Cordeiro NJ, Dale RC, Davidson JE, De Waele L, Desguerre I, Faivre L, Fazzi E, Isidor B, Lagae L, Latchman AR, Lebon P, Li C, Livingston JH, Lourenço CM, Mancardi MM, Masurel-Paulet A, McInnes IB, Menezes MP, Mignot C, O'Sullivan J, Orcesi S, Picco PP, Riva E, Robinson RA, Rodriguez D, Salvatici E, Scott C, Szybowska M, Tolmie JL, Vanderver A, Vanhulle C, Vieira JP, Webb K, Whitney RN, Williams SG, Wolfe LA, Zuberi SM, Hur S, Crow YJ.

Nat Genet. 2014 May;46(5):503-509. doi: 10.1038/ng.2933. Epub 2014 Mar 30.

31.

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H.

Brain. 2014 Jan;137(Pt 1):44-56. doi: 10.1093/brain/awt315. Epub 2013 Nov 19.

32.

[The knowledge, involvement and feelings of students graduating in medicine, nursing and psychology about orthothanasia].

dos Santos LR, Menezes MP, Gradvohl SM.

Cien Saude Colet. 2013 Sep;18(9):2645-51. Portuguese.

33.

[Interdisciplinarity and psychiatry: is it time not to know?].

de Menezes MP, Yasui S.

Cien Saude Colet. 2013 Jun;18(6):1817-26. Portuguese.

34.

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.

Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, Acsadi G, Menezes MP, Clarke NF, Züchner S; UK10K, Muntoni F, North KN, Reilly MM.

Am J Hum Genet. 2013 Jun 6;92(6):965-73. doi: 10.1016/j.ajhg.2013.04.018. Epub 2013 May 9.

35.

Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.

Cottenie E, Menezes MP, Rossor AM, Morrow JM, Yousry TA, Dick DJ, Anderson JR, Jaunmuktane Z, Brandner S, Blake JC, Houlden H, Reilly MM.

Neuromuscul Disord. 2013 May;23(5):399-403. doi: 10.1016/j.nmd.2013.01.010. Epub 2013 Mar 13.

PMID:
23489662
36.

Diffusion-weighted imaging changes caused by acute hypoglycemia and prolonged febrile convulsion in childhood.

Menezes MP, Nowland T, Onikul E.

AJNR Am J Neuroradiol. 2013 Apr;34(4):E43-4. doi: 10.3174/ajnr.A3527. Epub 2013 Mar 7. No abstract available.

37.

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML Jr, Engle EC.

Hum Mol Genet. 2012 Dec 15;21(26):5484-99. doi: 10.1093/hmg/dds393. Epub 2012 Sep 21.

38.

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.

Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC.

Nat Genet. 2012 Apr 29;44(6):704-8. doi: 10.1038/ng.2254.

39.

Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy.

Menezes MP, Waddell LB, Evesson FJ, Cooper S, Webster R, Jones K, Mowat D, Kiernan MC, Johnston HM, Corbett A, Harbord M, North KN, Clarke NF.

Neurology. 2012 Apr 17;78(16):1258-63. doi: 10.1212/WNL.0b013e318250d839. Epub 2012 Apr 4.

PMID:
22491857
40.

Peripheral neuropathy associated with mitochondrial disease in children.

Menezes MP, Ouvrier RA.

Dev Med Child Neurol. 2012 May;54(5):407-14. doi: 10.1111/j.1469-8749.2012.04271.x. Epub 2012 Mar 21. Review.

41.

Drift across the Atlantic: genetic differentiation and population structure in Brazilian and Portuguese native goat breeds.

Ribeiro MN, Bruno-de-Sousa C, Martinez-Martinez A, Ginja C, Menezes MP, Pimenta-Filho EC, Delgado JV, Gama LT.

J Anim Breed Genet. 2012 Feb;129(1):79-87. doi: 10.1111/j.1439-0388.2011.00942.x. Epub 2011 Jul 12.

PMID:
22225587
42.

Inherited neuromuscular disorders: pathway to diagnosis.

Menezes MP, North KN.

J Paediatr Child Health. 2012 Jun;48(6):458-65. doi: 10.1111/j.1440-1754.2011.02210.x. Epub 2011 Nov 3. Review.

PMID:
22050238

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