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Items: 28

1.

RNA nucleosides built in one prebiotic pot.

Hud NV, Fialho DM.

Science. 2019 Oct 4;366(6461):32-33. doi: 10.1126/science.aaz1130. No abstract available.

PMID:
31604291
2.

Periodic paralysis.

Fialho D, Griggs RC, Matthews E.

Handb Clin Neurol. 2018;148:505-520. doi: 10.1016/B978-0-444-64076-5.00032-6. Review.

PMID:
29478596
3.

Glycosylation of a model proto-RNA nucleobase with non-ribose sugars: implications for the prebiotic synthesis of nucleosides.

Fialho DM, Clarke KC, Moore MK, Schuster GB, Krishnamurthy R, Hud NV.

Org Biomol Chem. 2018 Feb 21;16(8):1263-1271. doi: 10.1039/c7ob03017g.

PMID:
29308815
4.

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.

Matthews E, Neuwirth C, Jaffer F, Scalco RS, Fialho D, Parton M, Raja Rayan D, Suetterlin K, Sud R, Spiegel R, Mein R, Houlden H, Schaefer A, Healy E, Palace J, Quinlivan R, Treves S, Holton JL, Jungbluth H, Hanna MG.

Neurology. 2018 Jan 30;90(5):e412-e418. doi: 10.1212/WNL.0000000000004894. Epub 2018 Jan 3.

5.

Somatosensory Evoked Potentials and Central Motor Conduction Times in children with dystonia and their correlation with outcomes from Deep Brain Stimulation of the Globus pallidus internus.

McClelland VM, Fialho D, Flexney-Briscoe D, Holder GE, Elze MC, Gimeno H, Siddiqui A, Mills K, Selway R, Lin JP.

Clin Neurophysiol. 2018 Feb;129(2):473-486. doi: 10.1016/j.clinph.2017.11.017. Epub 2017 Nov 24.

6.

Effects of a Physical Activity Program on Cardiorespiratory Fitness and Pulmonary Function in Obese Women after Bariatric Surgery: a Pilot Study.

Onofre T, Carlos R, Oliver N, Felismino A, Fialho D, Corte R, da Silva EP, Godoy E, Bruno S.

Obes Surg. 2017 Aug;27(8):2026-2033. doi: 10.1007/s11695-017-2584-y.

PMID:
28386756
7.

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.

8.

Spontaneous formation and base pairing of plausible prebiotic nucleotides in water.

Cafferty BJ, Fialho DM, Khanam J, Krishnamurthy R, Hud NV.

Nat Commun. 2016 Apr 25;7:11328. doi: 10.1038/ncomms11328.

9.

Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies.

Suetterlin KJ, Bugiardini E, Kaski JP, Morrow JM, Matthews E, Hanna MG, Fialho D.

JAMA Neurol. 2015 Dec;72(12):1531-3. doi: 10.1001/jamaneurol.2015.2338. No abstract available.

PMID:
26658970
10.

Diagnosis of skeletal muscle channelopathies.

Spillane J, Fialho D, Hanna MG.

Expert Opin Med Diagn. 2013 Nov;7(6):517-29. doi: 10.1517/17530059.2013.839656. Epub 2013 Sep 26. Review.

PMID:
24066928
11.

Effect of local application of aminoguanidine on the biomechanical retention of implants in rats with induced diabetes.

Aiala GF, Oliveira AM, Costa FO, Fialho DL, Cunha AS Jr, Oliveira PA.

Int J Oral Maxillofac Implants. 2013 Sep-Oct;28(5):1272-7. doi: 10.11607/jomi.2908.

PMID:
24066317
12.

Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.

Trivedi JR, Bundy B, Statland J, Salajegheh M, Rayan DR, Venance SL, Wang Y, Fialho D, Matthews E, Cleland J, Gorham N, Herbelin L, Cannon S, Amato A, Griggs RC, Hanna MG, Barohn RJ; CINCH Consortium.

Brain. 2013 Jul;136(Pt 7):2189-200. doi: 10.1093/brain/awt133. Epub 2013 Jun 13.

13.

Prevalence study of genetically defined skeletal muscle channelopathies in England.

Horga A, Raja Rayan DL, Matthews E, Sud R, Fialho D, Durran SC, Burge JA, Portaro S, Davis MB, Haworth A, Hanna MG.

Neurology. 2013 Apr 16;80(16):1472-5. doi: 10.1212/WNL.0b013e31828cf8d0. Epub 2013 Mar 20.

14.

A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.

Raja Rayan DL, Haworth A, Sud R, Matthews E, Fialho D, Burge J, Portaro S, Schorge S, Tuin K, Lunt P, McEntagart M, Toscano A, Davis MB, Hanna MG.

Neurology. 2012 Jun 12;78(24):1953-8. doi: 10.1212/WNL.0b013e318259e19c. Epub 2012 May 30.

15.

Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.

Tan SV, Matthews E, Barber M, Burge JA, Rajakulendran S, Fialho D, Sud R, Haworth A, Koltzenburg M, Hanna MG.

Ann Neurol. 2011 Feb;69(2):328-40. doi: 10.1002/ana.22238.

16.

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.

Matthews E, Fialho D, Tan SV, Venance SL, Cannon SC, Sternberg D, Fontaine B, Amato AA, Barohn RJ, Griggs RC, Hanna MG; CINCH Investigators.

Brain. 2010 Jan;133(Pt 1):9-22. doi: 10.1093/brain/awp294. Epub 2009 Nov 16. Review.

17.

Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita.

Fialho D, Kullmann DM, Hanna MG, Schorge S.

Neuromuscul Disord. 2008 Nov;18(11):869-72. doi: 10.1016/j.nmd.2008.07.004. Epub 2008 Sep 23.

PMID:
18815035
18.

Periodic paralysis.

Fialho D, Hanna MG.

Handb Clin Neurol. 2007;86:77-106. doi: 10.1016/S0072-9752(07)86004-0. No abstract available.

PMID:
18808996
19.

What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.

Matthews E, Tan SV, Fialho D, Sweeney MG, Sud R, Haworth A, Stanley E, Cea G, Davis MB, Hanna MG.

Neurology. 2008 Jan 1;70(1):50-3. doi: 10.1212/01.wnl.0000287069.21162.94.

PMID:
18166706
20.

Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.

Fialho D, Schorge S, Pucovska U, Davies NP, Labrum R, Haworth A, Stanley E, Sud R, Wakeling W, Davis MB, Kullmann DM, Hanna MG.

Brain. 2007 Dec;130(Pt 12):3265-74. Epub 2007 Oct 11.

PMID:
17932099
21.

Mayaro virus: imported cases of human infection in São Paulo State, Brazil.

Coimbra TL, Santos CL, Suzuki A, Petrella SM, Bisordi I, Nagamori AH, Marti AT, Santos RN, Fialho DM, Lavigne S, Buzzar MR, Rocco IM.

Rev Inst Med Trop Sao Paulo. 2007 Jul-Aug;49(4):221-4.

22.

POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

Hudson G, Deschauer M, Taylor RW, Hanna MG, Fialho D, Schaefer AM, He LP, Blakely E, Turnbull DM, Chinnery PF.

Neurology. 2006 May 9;66(9):1439-41.

PMID:
16682683
23.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF.

Brain. 2006 Jul;129(Pt 7):1674-84. Epub 2006 Apr 18.

PMID:
16621917
24.

Treatment of chronic inflammatory demyelinating polyradiculoneuropathy with methotrexate.

Fialho D, Chan YC, Allen DC, Reilly MM, Hughes RA.

J Neurol Neurosurg Psychiatry. 2006 Apr;77(4):544-7.

25.

Predicting response to treatment in chronic inflammatory demyelinating polyradiculoneuropathy.

Chan YC, Allen DC, Fialho D, Mills KR, Hughes RA.

J Neurol Neurosurg Psychiatry. 2006 Jan;77(1):114-6.

26.

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

Davies NP, Imbrici P, Fialho D, Herd C, Bilsland LG, Weber A, Mueller R, Hilton-Jones D, Ealing J, Boothman BR, Giunti P, Parsons LM, Thomas M, Manzur AY, Jurkat-Rott K, Lehmann-Horn F, Chinnery PF, Rose M, Kullmann DM, Hanna MG.

Neurology. 2005 Oct 11;65(7):1083-9.

PMID:
16217063
27.

The primary periodic paralyses: diagnosis, pathogenesis and treatment.

Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, Griggs RC; CINCH investigators.

Brain. 2006 Jan;129(Pt 1):8-17. Epub 2005 Sep 29. Review.

PMID:
16195244
28.

Pharmacological evidence for GABAergic and glutamatergic involvement in the convulsant and behavioral effects of glutaric acid.

Lima TT, Begnini J, de Bastiani J, Fialho DB, Jurach A, Ribeiro MC, Wajner M, de Mello CF.

Brain Res. 1998 Aug 17;802(1-2):55-60.

PMID:
9748501

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