Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 32

1.

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

Bugiardini E, Pope S, Feichtinger RG, Poole OV, Pittman AM, Woodward CE, Heales S, Quinlivan R, Houlden H, Mayr JA, Hanna MG, Pitceathly RDS.

J Clin Med. 2019 Jul 8;8(7). pii: E991. doi: 10.3390/jcm8070991.

2.

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.

Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R.

Ann Neurol. 2019 Aug;86(2):310-315. doi: 10.1002/ana.25525. Epub 2019 Jul 1.

PMID:
31187502
3.

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.

Horga A, Bugiardini E, Manole A, Bremner F, Jaunmuktane Z, Dankwa L, Rebelo AP, Woodward CE, Hargreaves IP, Cortese A, Pittman AM, Brandner S, Polke JM, Pitceathly RDS, Züchner S, Hanna MG, Scherer SS, Houlden H, Reilly MM.

Neurol Genet. 2019 Apr 1;5(2):e322. doi: 10.1212/NXG.0000000000000322. eCollection 2019 Apr.

4.

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.

Bugiardini E, Mitchell AL, Rosa ID, Horning-Do HT, Pitmann AM, Poole OV, Holton JL, Shah S, Woodward C, Hargreaves I, Quinlivan R, Amunts A, Wiesner RJ, Houlden H, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A.

Hum Mol Genet. 2019 Aug 15;28(16):2711-2719. doi: 10.1093/hmg/ddz093.

5.

Urogenital symptoms in mitochondrial disease: overlooked and undertreated.

Poole OV, Uchiyama T, Skorupinska I, Skorupinska M, Germain L, Kozyra D, Holmes S, James N, Bugiardini E, Woodward C, Quinlivan R, Emmanuel A, Hanna MG, Panicker JN, Pitceathly RDS.

Eur J Neurol. 2019 Aug;26(8):1111-1120. doi: 10.1111/ene.13952. Epub 2019 Apr 30.

PMID:
30884027
6.

Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1.

Poole OV, Everett CM, Gandhi S, Marino S, Bugiardini E, Woodward C, Lam A, Quinlivan R, Hanna MG, Pitceathly RDS.

Mitochondrion. 2019 Jul;47:294-297. doi: 10.1016/j.mito.2019.02.004. Epub 2019 Feb 8.

PMID:
30743023
7.

Vestibular dysfunction: a frequent problem for adults with mitochondrial disease.

Holmes S, Male AJ, Ramdharry G, Woodward C, James N, Skorupinska I, Skorupinska M, Germain L, Kozyra D, Bugiardini E, Poole OV, Quinlivan R, Hanna MG, Kaski D, Pitceathly RDS.

J Neurol Neurosurg Psychiatry. 2019 Jul;90(7):838-841. doi: 10.1136/jnnp-2018-319267. Epub 2018 Nov 26. No abstract available.

8.

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.

Sampedro Castañeda M, Zanoteli E, Scalco RS, Scaramuzzi V, Marques Caldas V, Conti Reed U, da Silva AMS, O'Callaghan B, Phadke R, Bugiardini E, Sud R, McCall S, Hanna MG, Poulsen H, Männikkö R, Matthews E.

Brain. 2018 Dec 1;141(12):3308-3318. doi: 10.1093/brain/awy283.

9.

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

Bugiardini E, Morrow JM, Shah S, Wood CL, Lynch DS, Pitmann AM, Reilly MM, Houlden H, Matthews E, Parton M, Hanna MG, Straub V, Yousry TA.

Front Neurol. 2018 Jun 26;9:456. doi: 10.3389/fneur.2018.00456. eCollection 2018.

10.

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy.

O'Connor E, Vandrovcova J, Bugiardini E, Chelban V, Manole A, Davagnanam I, Wiethoff S, Pittman A, Lynch DS, Efthymiou S, Marino S, Manzur AY, Roberts M, Hanna MG, Houlden H, Matthews E, Wood NW.

J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1230-1232. doi: 10.1136/jnnp-2017-317581. Epub 2018 Feb 22. No abstract available.

11.

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy.

Bugiardini E, Rossor AM, Lynch DS, Swash M, Pittman AM, Blake JC, Hanna MG, Houlden H, Holton JL, Reilly MM, Matthews E.

Neurol Genet. 2017 Jul 6;3(4):e168. doi: 10.1212/NXG.0000000000000168. eCollection 2017 Aug. No abstract available.

12.

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.

Bugiardini E, Poole OV, Manole A, Pittman AM, Horga A, Hargreaves I, Woodward CE, Sweeney MG, Holton JL, Taanman JW, Plant GT, Poulton J, Zeviani M, Ghezzi D, Taylor J, Smith C, Fratter C, Kanikannan MA, Paramasivam A, Thangaraj K, Spinazzola A, Holt IJ, Houlden H, Hanna MG, Pitceathly RDS.

Neurol Genet. 2017 May 2;3(3):e149. doi: 10.1212/NXG.0000000000000149. eCollection 2017 Jun.

13.

Clinical and genetic characterization of leukoencephalopathies in adults.

Lynch DS, Rodrigues Brandão de Paiva A, Zhang WJ, Bugiardini E, Freua F, Tavares Lucato L, Macedo-Souza LI, Lakshmanan R, Kinsella JA, Merwick A, Rossor AM, Bajaj N, Herron B, McMonagle P, Morrison PJ, Hughes D, Pittman A, Laurà M, Reilly MM, Warren JD, Mummery CJ, Schott JM, Adams M, Fox NC, Murphy E, Davagnanam I, Kok F, Chataway J, Houlden H.

Brain. 2017 May 1;140(5):1204-1211. doi: 10.1093/brain/awx045.

14.

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
15.

Gonadal failure is associated with visceral adiposity in myotonic dystrophies.

Passeri E, Bugiardini E, Sansone VA, Pizzocaro A, Fulceri C, Valaperta R, Borgato S, Costa E, Bandera F, Ambrosi B, Meola G, Persani L, Corbetta S.

Eur J Clin Invest. 2015 Jul;45(7):702-10. doi: 10.1111/eci.12459. Epub 2015 Jun 1.

PMID:
25950257
16.

SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype.

Bugiardini E, Rivolta I, Binda A, Soriano Caminero A, Cirillo F, Cinti A, Giovannoni R, Botta A, Cardani R, Wicklund MP, Meola G.

Neuromuscul Disord. 2015 Apr;25(4):301-7. doi: 10.1016/j.nmd.2015.01.006. Epub 2015 Jan 21.

PMID:
25660391
17.

Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2.

Cardani R, Giagnacovo M, Rossi G, Renna LV, Bugiardini E, Pizzamiglio C, Botta A, Meola G.

Neuromuscul Disord. 2014 Dec;24(12):1042-53. doi: 10.1016/j.nmd.2014.06.435. Epub 2014 Jun 25.

PMID:
25139674
18.

Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2.

Perfetti A, Greco S, Fasanaro P, Bugiardini E, Cardani R, Garcia-Manteiga JM, Riba M, Cittaro D, Stupka E, Meola G, Martelli F.

PLoS One. 2014 Apr 10;9(4):e93983. doi: 10.1371/journal.pone.0093983. eCollection 2014. Erratum in: PLoS One. 2014;9(9):e108102. Manteiga, Jose M Garcia [corrected to Garcia-Manteiga, Jose M].

19.

Plasma microRNAs as biomarkers for myotonic dystrophy type 1.

Perfetti A, Greco S, Bugiardini E, Cardani R, Gaia P, Gaetano C, Meola G, Martelli F.

Neuromuscul Disord. 2014 Jun;24(6):509-15. doi: 10.1016/j.nmd.2014.02.005. Epub 2014 Feb 18.

20.

Consensus on cerebral involvement in myotonic dystrophy: workshop report: May 24-27, 2013, Ferrere (AT), Italy.

Bugiardini E, Meola G; DM-CNS Group.

Neuromuscul Disord. 2014 May;24(5):445-52. doi: 10.1016/j.nmd.2014.01.013. Epub 2014 Feb 7. No abstract available.

PMID:
24613228
21.

Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.

Cardani R, Bugiardini E, Renna LV, Rossi G, Colombo G, Valaperta R, Novelli G, Botta A, Meola G.

PLoS One. 2013 Dec 20;8(12):e83777. doi: 10.1371/journal.pone.0083777. eCollection 2013.

22.

Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies.

Passeri E, Bugiardini E, Sansone VA, Valaperta R, Costa E, Ambrosi B, Meola G, Corbetta S.

J Neurol Sci. 2013 Aug 15;331(1-2):132-5. doi: 10.1016/j.jns.2013.06.008. Epub 2013 Jun 25.

PMID:
23809192
23.

GSK3β mediates muscle pathology in myotonic dystrophy.

Jones K, Wei C, Iakova P, Bugiardini E, Schneider-Gold C, Meola G, Woodgett J, Killian J, Timchenko NA, Timchenko LT.

J Clin Invest. 2012 Dec;122(12):4461-72. doi: 10.1172/JCI64081. Epub 2012 Nov 19.

24.

Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.

Cardani R, Giagnacovo M, Botta A, Rinaldi F, Morgante A, Udd B, Raheem O, Penttilä S, Suominen T, Renna LV, Sansone V, Bugiardini E, Novelli G, Meola G.

J Neurol. 2012 Oct;259(10):2090-9. doi: 10.1007/s00415-012-6462-1. Epub 2012 Mar 10.

PMID:
22407275
25.

Muscle biopsy.

Meola G, Bugiardini E, Cardani R.

J Neurol. 2012 Apr;259(4):601-10. doi: 10.1007/s00415-011-6193-8. Epub 2011 Jul 30. Review.

PMID:
21805256
26.

Autonomic innervation in multiple system atrophy and pure autonomic failure.

Donadio V, Cortelli P, Elam M, Di Stasi V, Montagna P, Holmberg B, Giannoccaro MP, Bugiardini E, Avoni P, Baruzzi A, Liguori R.

J Neurol Neurosurg Psychiatry. 2010 Dec;81(12):1327-35. doi: 10.1136/jnnp.2009.198135. Epub 2010 Jul 26.

PMID:
20660924
27.

Small fiber neuropathy in female patients with fabry disease.

Liguori R, Di Stasi V, Bugiardini E, Mignani R, Burlina A, Borsini W, Baruzzi A, Montagna P, Donadio V.

Muscle Nerve. 2010 Mar;41(3):409-12. doi: 10.1002/mus.21606.

PMID:
20120004
28.

Agrypnia Excitata: a microneurographic study of muscle sympathetic nerve activity.

Donadio V, Montagna P, Pennisi M, Rinaldi R, Di Stasi V, Avoni P, Bugiardini E, Giannoccaro MP, Cortelli P, Plazzi G, Baruzzi A, Liguori R.

Clin Neurophysiol. 2009 Jun;120(6):1139-42. doi: 10.1016/j.clinph.2009.04.006. Epub 2009 May 12.

PMID:
19442577
29.

Sympathetic and cardiovascular activity during cataplexy in narcolepsy.

Donadio V, Plazzi G, Vandi S, Franceschini C, Karlsson T, Montagna P, Vetrugno R, Bugiardini E, Mignot E, Liguori R.

J Sleep Res. 2008 Dec;17(4):458-63. doi: 10.1111/j.1365-2869.2008.00682.x. Epub 2008 Oct 20.

30.

Anhidrosis in multiple system atrophy: a preganglionic sudomotor dysfunction?

Donadio V, Nolano M, Elam M, Montagna P, Provitera V, Bugiardini E, Baruzzi A, Santoro L, Liguori R.

Mov Disord. 2008 Apr 30;23(6):885-8. doi: 10.1002/mds.21972.

PMID:
18361470
31.

Isolated generalised anhidrosis induced by postganglionic sympathetic skin nerve fibre degeneration: an incomplete Ross syndrome?

Donadio V, Cortelli P, Falzone F, Bugiardini E, Giuliani A, Misciali C, Montagna P, Calzà L, Liguori R.

J Neurol Neurosurg Psychiatry. 2008 Aug;79(8):959-61. doi: 10.1136/jnnp.2007.142802. Epub 2008 Mar 20.

PMID:
18356251
32.

Daytime sympathetic hyperactivity in OSAS is related to excessive daytime sleepiness.

Donadio V, Liguori R, Vetrugno R, Contin M, Elam M, Wallin BG, Karlsson T, Bugiardini E, Baruzzi A, Montagna P.

J Sleep Res. 2007 Sep;16(3):327-32.

Supplemental Content

Loading ...
Support Center