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Results: 1 to 20 of 52


Rhabdomyolysis: a genetic perspective.

Scalco RS, Gardiner AR, Pitceathly RD, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H, Quinlivan R.

Orphanet J Rare Dis. 2015 May 2;10(1):51. [Epub ahead of print]


The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.

Gang Q, Bettencourt C, Machado PM, Fox Z, Brady S, Healy E, Parton M, Holton JL, Hilton-Jones D, Shieh PB, Zanoteli E, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Hanna MG, Houlden H; Muscle Study Group and the International IBM Genetics Consortium(#).

Neurobiol Aging. 2015 Apr;36(4):1766.e1-3. doi: 10.1016/j.neurobiolaging.2014.12.039. Epub 2015 Jan 14.


Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophy.

Marques TB, Neves Jde C, Portes LA, Salge JM, Zanoteli E, Reed UC.

J Bras Pneumol. 2014 Oct;40(5):528-34. English, Portuguese.


Integrative data mining highlights candidate genes for monogenic myopathies.

Abath Neto O, Tassy O, Biancalana V, Zanoteli E, Pourquié O, Laporte J.

PLoS One. 2014 Oct 29;9(10):e110888. doi: 10.1371/journal.pone.0110888. eCollection 2014.


Clinical aspects of patients with sarcoglycanopathies under steroids therapy.

Albuquerque MA, Abath-Neto O, Maximino JR, Chadi G, Zanoteli E, Reed UC.

Arq Neuropsiquiatr. 2014 Oct;72(10):768-72.


Whole-body magnetic resonance imaging in the assessment of muscular involvement in juvenile dermatomyositis/polymyositis patients.

Castro TC, Lederman H, Terreri MT, Caldana WI, Zanoteli E, Hilário MO.

Scand J Rheumatol. 2014;43(4):329-33. doi: 10.3109/03009742.2013.868509. Epub 2014 Feb 7.


The effects of omega-3 fatty acid supplementation on dexamethasone-induced muscle atrophy.

Fappi A, Godoy TS, Maximino JR, Rizzato VR, Neves Jde C, Chadi G, Zanoteli E.

Biomed Res Int. 2014;2014:961438. doi: 10.1155/2014/961438. Epub 2014 May 25.


Phenotypic intermediate forms overlapping to Emery-Dreifuss and limb girdle muscular dystrophies caused by lamin A/C gene mutations.

Albuquerque MA, Pasqualin LM, Martins CA, Reed UC, Zanoteli E.

Pediatr Neurol. 2014 May;50(5):e11-2. doi: 10.1016/j.pediatrneurol.2014.01.036. Epub 2014 Jan 24. No abstract available.


Predicting the loss of ambulation in Duchenne muscular dystrophy.

Zanoteli E.

Arq Neuropsiquiatr. 2014 Jan;72(1):1-2. doi: 10.1590/0004-282X20130243. No abstract available.


Statin-associated necrotizing autoimmune myopathy.

Fernandes GH, Zanoteli E, Shinjo SK.

Mod Rheumatol. 2014 Sep;24(5):862-4. doi: 10.3109/14397595.2013.874739. Epub 2014 Feb 11.


Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort.

Pasqualin LM, Reed UC, Costa TV, Quedas E, Albuquerque MA, Resende MB, Rutkowski A, Chadi G, Zanoteli E.

Pediatr Neurol. 2014 Apr;50(4):400-6. doi: 10.1016/j.pediatrneurol.2013.11.010. Epub 2013 Nov 21.


Early gene expression changes in skeletal muscle from SOD1(G93A) amyotrophic lateral sclerosis animal model.

de Oliveira GP, Maximino JR, Maschietto M, Zanoteli E, Puga RD, Lima L, Carraro DM, Chadi G.

Cell Mol Neurobiol. 2014 Apr;34(3):451-62. doi: 10.1007/s10571-014-0029-x. Epub 2014 Jan 18.


Spinal muscular atrophy due to a "de novo" 1.3 Mb deletion: implication for genetic counseling.

da Silva LR, Colovati ME, Coprerski B, de Andrade CE, Zanoteli E, Raskin S, Oliveira MM, Melaragno MI, Perez AB.

Neuromuscul Disord. 2013 May;23(5):388-90. doi: 10.1016/j.nmd.2013.01.009. Epub 2013 Mar 1.


Duchenne muscular dystrophy and Duane's syndrome: a rare association.

Pasqualin LM, Zanoteli E, Veloso MA, Frizzo SK, Resende MB, Abucham-Neto JZ, Polati M, Chadi G, Reed UC.

Arq Neuropsiquiatr. 2013 Feb;71(2):127-8. No abstract available.


Lung function monitoring in patients with duchenne muscular dystrophy on steroid therapy.

Machado DL, Silva EC, Resende MB, Carvalho CR, Zanoteli E, Reed UC.

BMC Res Notes. 2012 Aug 13;5:435. doi: 10.1186/1756-0500-5-435.


Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J.

Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067. Epub 2012 Apr 4.


Motor function measure scale, steroid therapy and patients with Duchenne muscular dystrophy.

Silva EC, Machado DL, Resende MB, Silva RF, Zanoteli E, Reed UC.

Arq Neuropsiquiatr. 2012 Mar;70(3):191-5.


Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy.

Gurgel-Giannetti J, Zanoteli E, de Castro Concentino EL, Abath Neto O, Pesquero JB, Reed UC, Vainzof M.

Neuromuscul Disord. 2012 Jun;22(6):541-5. doi: 10.1016/j.nmd.2011.12.005. Epub 2012 Jan 20.


Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid.

Darbar IA, Plaggert PG, Resende MB, Zanoteli E, Reed UC.

BMC Neurol. 2011 Mar 24;11:36. doi: 10.1186/1471-2377-11-36.


Duchenne muscular dystrophy: quality of life among 95 patients evaluated using the Life Satisfaction Index for Adolescents.

Simon VA, Resende MB, Simon MA, Zanoteli E, Reed UC.

Arq Neuropsiquiatr. 2011 Feb;69(1):19-22.

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