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Items: 48

1.

Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X.

Kagiava A, Richter J, Tryfonos C, Karaiskos C, Heslegrave AJ, Sargiannidou I, Rossor AM, Zetterberg H, Reilly MM, Christodoulou C, Kleopa KA.

Hum Mol Genet. 2019 Aug 14. pii: ddz199. doi: 10.1093/hmg/ddz199. [Epub ahead of print]

PMID:
31411673
2.

Charcot-Marie-Tooth disease and related disorders: an evolving landscape.

Laurá M, Pipis M, Rossor AM, Reilly MM.

Curr Opin Neurol. 2019 Jul 24. doi: 10.1097/WCO.0000000000000735. [Epub ahead of print]

PMID:
31343428
3.

Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.

Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H.

Nat Genet. 2019 May;51(5):920. doi: 10.1038/s41588-019-0422-y.

PMID:
31028356
4.

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.

Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H.

Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29. Erratum in: Nat Genet. 2019 May;51(5):920.

PMID:
30926972
5.

Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy.

Schiza N, Georgiou E, Kagiava A, Médard JJ, Richter J, Tryfonos C, Sargiannidou I, Heslegrave AJ, Rossor AM, Zetterberg H, Reilly MM, Christodoulou C, Chrast R, Kleopa KA.

Brain. 2019 May 1;142(5):1227-1241. doi: 10.1093/brain/awz064.

6.

Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis.

Kapoor M, Rossor AM, Laura M, Reilly MM.

J Neuromuscul Dis. 2019;6(2):189-199. doi: 10.3233/JND-180371.

7.

TDP43 pathology in the brain, spinal cord, and dorsal root ganglia of a patient with FOSMN.

Rossor AM, Jaunmuktane Z, Rossor MN, Hoti G, Reilly MM.

Neurology. 2019 Feb 26;92(9):e951-e956. doi: 10.1212/WNL.0000000000007008. Epub 2019 Jan 30. Erratum in: Neurology. 2019 Jul 9;93(2):e88.

8.

Diagnosis of amyloid neuropathy.

Kapoor M, Rossor AM, Jaunmuktane Z, Lunn MPT, Reilly MM.

Pract Neurol. 2019 Jun;19(3):250-258. doi: 10.1136/practneurol-2018-002098. Epub 2018 Dec 30.

PMID:
30598431
9.

CNS phenotype in X linked Charcot- Marie-Tooth disease.

Vivekanandam V, Hoskote C, Rossor AM, Reilly MM.

J Neurol Neurosurg Psychiatry. 2019 Sep;90(9):1068. doi: 10.1136/jnnp-2018-319849. Epub 2018 Dec 5. No abstract available.

PMID:
30518545
10.

IGHMBP2 mutation associated with organ-specific autonomic dysfunction.

Tomaselli PJ, Horga A, Rossor AM, Jaunmuktane Z, Cortese A, Blake JC, Zarate-Lopez N, Houlden H, Reilly MM.

Neuromuscul Disord. 2018 Dec;28(12):1012-1015. doi: 10.1016/j.nmd.2018.08.010. Epub 2018 Aug 29.

11.

Can compressive thoracic cord lesions cause a pure lower motor neurone syndrome?

Kok CY, Chandrashekar H, Turner C, Manji H, Rossor AM.

Pract Neurol. 2019 Feb;19(1):72-74. doi: 10.1136/practneurol-2018-002016. Epub 2018 Oct 3.

12.

Severe cognitive impairment in a patient with CMT2A.

Tomaselli PJ, Kapoor M, Cortese A, Polke JM, Rossor AM, Reilly MM.

J Peripher Nerv Syst. 2018 Jun;23(2):147-148. doi: 10.1111/jns.12260. Epub 2018 Mar 26. No abstract available.

PMID:
29520876
13.

Antisense oligonucleotides and other genetic therapies made simple.

Rossor AM, Reilly MM, Sleigh JN.

Pract Neurol. 2018 Apr;18(2):126-131. doi: 10.1136/practneurol-2017-001764. Epub 2018 Feb 17. Review.

PMID:
29455156
14.

A diagnostic conundrum.

Keddie S, Jaunmuktane Z, Brandner S, Shah S, Maddison P, Rees JH, Hanna MG, Lunn MPT, Reilly MM, Rossor AM, Carr AS.

Pract Neurol. 2018 Apr;18(2):137-142. doi: 10.1136/practneurol-2017-001801. Epub 2018 Jan 23. No abstract available.

15.

Plasma neurofilament light chain concentration in the inherited peripheral neuropathies.

Sandelius Å, Zetterberg H, Blennow K, Adiutori R, Malaspina A, Laura M, Reilly MM, Rossor AM.

Neurology. 2018 Feb 6;90(6):e518-e524. doi: 10.1212/WNL.0000000000004932. Epub 2018 Jan 10.

16.

Sensory neuronopathy associated with cholangiocarcinoma diagnosed 6 years after symptom onset.

Rossor AM, Blake J, Pissanou T, Reilly MM.

BMJ Case Rep. 2017 Dec 20;2017. pii: bcr-2016-217844. doi: 10.1136/bcr-2016-217844.

17.

Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies.

Burnor E, Yang L, Zhou H, Patterson KR, Quinn C, Reilly MM, Rossor AM, Scherer SS, Lancaster E.

Neurology. 2018 Jan 2;90(1):e31-e38. doi: 10.1212/WNL.0000000000004773. Epub 2017 Nov 29.

18.

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.

Tomaselli PJ, Rossor AM, Horga A, Laura M, Blake JC, Houlden H, Reilly MM.

J Peripher Nerv Syst. 2017 Dec;22(4):460-463. doi: 10.1111/jns.12235. Epub 2017 Sep 11.

19.

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis.

Rossor AM, Carr AS, Devine H, Chandrashekar H, Pelayo-Negro AL, Pareyson D, Shy ME, Scherer SS, Reilly MM.

J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):846-863. doi: 10.1136/jnnp-2016-313960. Epub 2017 Aug 9. Review.

PMID:
28794150
20.

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Panosyan FB, Laura M, Rossor AM, Pisciotta C, Piscosquito G, Burns J, Li J, Yum SW, Lewis RA, Day J, Horvath R, Herrmann DN, Shy ME, Pareyson D, Reilly MM, Scherer SS; Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN).

Neurology. 2017 Aug 29;89(9):927-935. doi: 10.1212/WNL.0000000000004296. Epub 2017 Aug 2.

21.

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.

22.

A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease.

Zis P, Reilly MM, Rao DG, Tomaselli P, Rossor AM, Hadjivassiliou M.

J Peripher Nerv Syst. 2017 Sep;22(3):224-225. doi: 10.1111/jns.12222. No abstract available.

23.

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.

24.

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.

Tomaselli PJ, Rossor AM, Horga A, Jaunmuktane Z, Carr A, Saveri P, Piscosquito G, Pareyson D, Laura M, Blake JC, Poh R, Polke J, Houlden H, Reilly MM.

Neurology. 2017 Apr 11;88(15):1445-1453. doi: 10.1212/WNL.0000000000003819. Epub 2017 Mar 10.

25.

Leprosy in a patient infected with HIV.

Galtrey CM, Modarres H, Jaunmuktane Z, Brandner S, Rossor AM, Lockwood DN, Reilly MM, Manji H, Schon F.

Pract Neurol. 2017 Apr;17(2):135-139. doi: 10.1136/practneurol-2016-001519. Epub 2016 Dec 9.

26.

Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.

Rossor AM, Morrow JM, Polke JM, Murphy SM, Houlden H; INC-RDCRC, Laura M, Manji H, Blake J, Reilly MM.

Neuromuscul Disord. 2017 Jan;27(1):50-56. doi: 10.1016/j.nmd.2016.10.001. Epub 2016 Oct 8.

27.

Recent advances in the genetic neuropathies.

Rossor AM, Tomaselli PJ, Reilly MM.

Curr Opin Neurol. 2016 Oct;29(5):537-48. doi: 10.1097/WCO.0000000000000373. Review.

28.

Plasma neurofilament heavy chain is not a useful biomarker in Charcot-Marie-Tooth disease.

Rossor AM, Lu CH, Petzold A, Malaspina A, Laura M, Greensmith L, Reilly MM.

Muscle Nerve. 2016 Jun;53(6):972-5. doi: 10.1002/mus.25124. Epub 2016 Apr 27. Erratum in: Muscle Nerve. 2017 Jan;55(1):141.

PMID:
27015106
29.

Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling.

Tomaselli PJ, Rossor AM, Polke JM, Poh R, Blake J, Reilly MM.

J Peripher Nerv Syst. 2016 Mar;21(1):52-4. doi: 10.1111/jns.12155. No abstract available.

PMID:
26930221
30.

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.

31.

A practical approach to the genetic neuropathies.

Rossor AM, Evans MR, Reilly MM.

Pract Neurol. 2015 Jun;15(3):187-98. doi: 10.1136/practneurol-2015-001095. Epub 2015 Apr 21. Review.

PMID:
25898997
32.

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY, Martínez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, Connolly AM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C, Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F.

Neurology. 2015 Feb 17;84(7):668-79. doi: 10.1212/WNL.0000000000001269. Epub 2015 Jan 21.

33.

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.

34.

Opsoclonus myoclonus syndrome due to squamous cell carcinoma of the oesophagus.

Rossor AM, Perry F, Botha A, Norwood F.

BMJ Case Rep. 2014 Mar 3;2014. pii: bcr2013202849. doi: 10.1136/bcr-2013-202849.

35.

A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.

Sumner CJ, d'Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Züchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, Reilly MM, Greensmith L, Singleton AB, Harms MB, Rossor AM, Houlden H.

Am J Hum Genet. 2013 Nov 7;93(5):976-83. doi: 10.1016/j.ajhg.2013.10.006. Epub 2013 Oct 24.

36.

Clinical implications of genetic advances in Charcot-Marie-Tooth disease.

Rossor AM, Polke JM, Houlden H, Reilly MM.

Nat Rev Neurol. 2013 Oct;9(10):562-71. doi: 10.1038/nrneurol.2013.179. Epub 2013 Sep 10. Review.

PMID:
24018473
37.

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.

38.

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
39.

BAG3 mutations: another cause of giant axonal neuropathy.

Jaffer F, Murphy SM, Scoto M, Healy E, Rossor AM, Brandner S, Phadke R, Selcen D, Jungbluth H, Muntoni F, Reilly MM.

J Peripher Nerv Syst. 2012 Jun;17(2):210-6. doi: 10.1111/j.1529-8027.2012.00409.x.

PMID:
22734908
40.

A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2.

Rossor AM, Davidson GL, Blake J, Polke JM, Murphy SM, Houlden H, Innes A, Kalmar B, Greensmith L, Reilly MM.

J Peripher Nerv Syst. 2012 Jun;17(2):201-5. doi: 10.1111/j.1529-8027.2012.00400.x. Erratum in: J Peripher Nerv Syst. 2014 Sep;19(3):250-89.

PMID:
22734906
41.

Knee bobbing in Charcot-Marie-Tooth disease.

Rossor AM, Murphy S, Reilly MM.

Pract Neurol. 2012 Jun;12(3):182-3. doi: 10.1136/practneurol-2011-000167.

42.

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.

Murphy SM, Laura M, Fawcett K, Pandraud A, Liu YT, Davidson GL, Rossor AM, Polke JM, Castleman V, Manji H, Lunn MP, Bull K, Ramdharry G, Davis M, Blake JC, Houlden H, Reilly MM.

J Neurol Neurosurg Psychiatry. 2012 Jul;83(7):706-10. doi: 10.1136/jnnp-2012-302451. Epub 2012 May 10.

43.

The distal hereditary motor neuropathies.

Rossor AM, Kalmar B, Greensmith L, Reilly MM.

J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):6-14. doi: 10.1136/jnnp-2011-300952. Epub 2011 Oct 25. Review.

PMID:
22028385
44.

Appearance of anti-NMDAR antibodies after plasma exchange and total removal of malignant ovarian teratoma in a patient with paraneoplastic limbic encephalopathy.

Wali SM, Cai A, Rossor AM, Clough C.

BMJ Case Rep. 2011 Mar 24;2011. pii: bcr0220113851. doi: 10.1136/bcr.02.2011.3851.

45.

Olanzapine-induced chylomicronemia presenting as acute pancreatitis.

Rossor AM, Leech N, Neely RD.

J Clin Psychopharmacol. 2007 Aug;27(4):395-6. No abstract available.

PMID:
17632226
46.

Left ventricular apical ballooning (takotsubo cardiomyopathy) in thyrotoxicosis.

Rossor AM, Pearce SH, Adams PC.

Thyroid. 2007 Feb;17(2):181-2. No abstract available.

PMID:
17316123
47.

Patterns of temporal lobe atrophy in semantic dementia and Alzheimer's disease.

Chan D, Fox NC, Scahill RI, Crum WR, Whitwell JL, Leschziner G, Rossor AM, Stevens JM, Cipolotti L, Rossor MN.

Ann Neurol. 2001 Apr;49(4):433-42.

PMID:
11310620
48.

Intracranial volume and Alzheimer disease: evidence against the cerebral reserve hypothesis.

Jenkins R, Fox NC, Rossor AM, Harvey RJ, Rossor MN.

Arch Neurol. 2000 Feb;57(2):220-4.

PMID:
10681081

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