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Items: 1 to 50 of 248

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.

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group.

Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1.

PMID:
31187503
4.

Expanding the spectrum of genes responsible for hereditary motor neuropathies.

Previtali SC, Zhao E, Lazarevic D, Pipitone GB, Fabrizi GM, Manganelli F, Mazzeo A, Pareyson D, Schenone A, Taroni F, Vita G, Bellone E, Ferrarini M, Garibaldi M, Magri S, Padua L, Pennisi E, Pisciotta C, Riva N, Scaioli V, Scarlato M, Tozza S, Geroldi A, Jordanova A, Ferrari M, Molineris I, Reilly MM, Comi G, Carrera P, Devoto M, Bolino A.

J Neurol Neurosurg Psychiatry. 2019 Jun 5. pii: jnnp-2019-320717. doi: 10.1136/jnnp-2019-320717. [Epub ahead of print]

PMID:
31167812
5.

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.

6.

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).

Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A.

Ann Neurol. 2019 Jul;86(1):55-67. doi: 10.1002/ana.25500. Epub 2019 May 27.

PMID:
31070812
7.

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
8.

Balance impairment in pediatric charcot-marie-tooth disease.

Estilow T, Glanzman AM, Burns J, Harrington A, Cornett K, Menezes MP, Shy R, Moroni I, Pagliano E, Pareyson D, Bhandari T, Muntoni F, Laurá M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Troutman G, Bray P, Halaki M, Shy ME, Yum SW; CMTPedS STUDY GROUP.

Muscle Nerve. 2019 Sep;60(3):242-249. doi: 10.1002/mus.26500. Epub 2019 May 15.

PMID:
31026080
9.

Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynamin.

Ali T, Bednarska J, Vassilopoulos S, Tran M, Diakonov IA, Ziyadeh-Isleem A, Guicheney P, Gorelik J, Korchev YE, Reilly MM, Bitoun M, Shevchuk A.

FASEB J. 2019 Jul;33(7):8504-8518. doi: 10.1096/fj.201802635R. Epub 2019 Apr 24.

10.

Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1.

Kugathasan U, Evans MRB, Morrow JM, Sinclair CDJ, Thornton JS, Yousry TA, Hornemann T, Suriyanarayanan S, Owusu-Ansah K, Lauria G, Lombardi R, Polke JM, Wilson E, Bennett DLH, Houlden H, Hanna MG, Blake JC, Laura M, Reilly MM.

J Neurol Neurosurg Psychiatry. 2019 Aug;90(8):895-906. doi: 10.1136/jnnp-2018-320198. Epub 2019 Apr 17.

PMID:
30995999
11.

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium.

J Neuromuscul Dis. 2019;6(2):201-211. doi: 10.3233/JND-190377.

12.

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
13.

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.

14.

Spinal Stenosis in Familial Transthyretin Amyloidosis.

Carr AS, Shah S, Choi D, Blake J, Phadke R, Gilbertson J, Whelan CJ, Wechalekar AD, Gillmore JD, Hawkins PN, Reilly MM.

J Neuromuscul Dis. 2019;6(2):267-270. doi: 10.3233/JND-180348.

PMID:
30856118
15.

Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity.

Wallace A, Pietrusz A, Dewar E, Dudziec M, Jones K, Hennis P, Sterr A, Baio G, Machado PM, Laurá M, Skorupinska I, Skorupinska M, Butcher K, Trenell M, Reilly MM, Hanna MG, Ramdharry GM.

Neurology. 2019 Apr 9;92(15):e1773-e1785. doi: 10.1212/WNL.0000000000007265. Epub 2019 Mar 8.

16.

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.

17.

Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.

Tao F, Beecham GW, Rebelo AP, Svaren J, Blanton SH, Moran JJ, Lopez-Anido C, Morrow JM, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium.

Ann Neurol. 2019 Mar;85(3):316-330. doi: 10.1002/ana.25426.

PMID:
30706531
18.

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.

19.

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
20.

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
21.

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.

22.

Raised VEGF: High sensitivity and specificity in the diagnosis of POEMS syndrome.

Pihan M, Keddie S, D'Sa S, Church AJ, Yong KL, Reilly MM, Lunn MP.

Neurol Neuroimmunol Neuroinflamm. 2018 Aug 15;5(5):e486. doi: 10.1212/NXI.0000000000000486. eCollection 2018 Sep.

23.

Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A.

Morrow JM, Evans MRB, Grider T, Sinclair CDJ, Thedens D, Shah S, Yousry TA, Hanna MG, Nopoulos P, Thornton JS, Shy ME, Reilly MM.

Neurology. 2018 Sep 18;91(12):e1125-e1129. doi: 10.1212/WNL.0000000000006214. Epub 2018 Aug 17.

24.

Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy.

Silwal A, Pitt M, Phadke R, Mankad K, Davison JE, Rossor A, DeVile C, Reilly MM, Manzur AY, Muntoni F, Munot P.

Neuromuscul Disord. 2018 Sep;28(9):757-765. doi: 10.1016/j.nmd.2018.06.001. Epub 2018 Jun 12.

25.

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.

26.

Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro.

Wilson ER, Kugathasan U, Abramov AY, Clark AJ, Bennett DLH, Reilly MM, Greensmith L, Kalmar B.

Neurobiol Dis. 2018 Sep;117:1-14. doi: 10.1016/j.nbd.2018.05.008. Epub 2018 May 18.

27.

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Parkinson MH, Bartmann AP, Clayton LMS, Nethisinghe S, Pfundt R, Chapple JP, Reilly MM, Manji H, Wood NJ, Bremner F, Giunti P.

Brain. 2018 Apr 1;141(4):989-999. doi: 10.1093/brain/awy028.

PMID:
29538656
28.

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
29.

POEMS neuropathy: optimising diagnosis and management.

Keddie S, D'Sa S, Foldes D, Carr AS, Reilly MM, Lunn MPT.

Pract Neurol. 2018 Aug;18(4):278-290. doi: 10.1136/practneurol-2017-001792. Epub 2018 Mar 6. Review.

PMID:
29511110
30.

Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.

Saghira C, Bis DM, Stanek D, Strickland A, Herrmann DN, Reilly MM, Scherer SS, Shy ME; Inherited Neuropathy Consortium, Züchner S.

Hum Mutat. 2018 May;39(5):635-642. doi: 10.1002/humu.23412. Epub 2018 Mar 14.

31.

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
32.

Cabozantinib in Patients with Advanced Merkel Cell Carcinoma.

Rabinowits G, Lezcano C, Catalano PJ, McHugh P, Becker H, Reilly MM, Huang J, Tyagi A, Thakuria M, Bresler SC, Sholl LM, Shapiro GI, Haddad R, DeCaprio JA.

Oncologist. 2018 Jul;23(7):814-821. doi: 10.1634/theoncologist.2017-0552. Epub 2018 Feb 14.

33.

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.

34.

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.

35.

Frequency and circumstances of falls for people with Charcot-Marie-Tooth disease: A cross sectional survey.

Ramdharry GM, Reilly-O'Donnell L, Grant R, Reilly MM.

Physiother Res Int. 2018 Apr;23(2):e1702. doi: 10.1002/pri.1702. Epub 2017 Dec 28.

PMID:
29282812
36.

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.

37.

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.

38.

221st ENMC International Workshop:: Foot Surgery in Charcot-Marie-Tooth disease. 10-12 June 2016, Naarden, The Netherlands.

Reilly MM, Pareyson D, Burns J, Laurá M, Shy ME, Singh D; ENMC CMT Foot Surgery Study Group.

Neuromuscul Disord. 2017 Dec;27(12):1138-1142. doi: 10.1016/j.nmd.2017.09.005. Epub 2017 Sep 21. No abstract available.

PMID:
29074294
39.

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.

Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, Pope S, Pandraud A, Horga A, Scalco RS, Li A, Ashokkumar B, Lourenço CM, Heales S, Horvath R, Chinnery PF, Toro C, Singleton AB, Jacques TS, Abramov AY, Muntoni F, Hanna MG, Reilly MM, Revesz T, Kullmann DM, Jepson JEC, Houlden H.

Brain. 2017 Nov 1;140(11):2820-2837. doi: 10.1093/brain/awx231.

40.

Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

Cortese A, Laurà M, Casali C, Nishino I, Hayashi YK, Magri S, Taroni F, Stuani C, Saveri P, Moggio M, Ripolone M, Prelle A, Pisciotta C, Sagnelli A, Pichiecchio A, Reilly MM, Buratti E, Pareyson D.

Eur J Neurol. 2018 Jan;25(1):154-163. doi: 10.1111/ene.13478. Epub 2017 Dec 2.

PMID:
29029362
41.

High prevalence of the MYD88 L265P mutation in IgM anti-MAG paraprotein-associated peripheral neuropathy.

Vos JM, Notermans NC, D'Sa S, Lunn MP, van der Pol WL, Kraan W, Reilly MM, Chalker J, Gupta R, Kersten MJ, Pals ST, Minnema MC.

J Neurol Neurosurg Psychiatry. 2018 Sep;89(9):1007-1009. doi: 10.1136/jnnp-2017-316689. Epub 2017 Oct 10. No abstract available.

PMID:
29018161
42.

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.

43.

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
44.

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
45.

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.

46.

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.

47.

Carpal tunnel syndrome in inherited neuropathies: A retrospective survey.

Panosyan FB, Kirk CA, Marking D, Reilly MM, Scherer SS, Shy ME, Herrmann DN.

Muscle Nerve. 2018 Mar;57(3):388-394. doi: 10.1002/mus.25742. Epub 2017 Jul 21.

48.

Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.

Laurá M, Singh D, Ramdharry G, Morrow J, Skorupinska M, Pareyson D, Burns J, Lewis RA, Scherer SS, Herrmann DN, Cullen N, Bradish C, Gaiani L, Martinelli N, Gibbons P, Pfeffer G, Phisitkul P, Wapner K, Sanders J, Flemister S, Shy ME, Reilly MM; Inherited Neuropathies Consortium.

Muscle Nerve. 2018 Feb;57(2):255-259. doi: 10.1002/mus.25724. Epub 2017 Jul 7.

49.

Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.

Kalmar B, Innes A, Wanisch K, Kolaszynska AK, Pandraud A, Kelly G, Abramov AY, Reilly MM, Schiavo G, Greensmith L.

Hum Mol Genet. 2017 Sep 1;26(17):3313-3326. doi: 10.1093/hmg/ddx216.

50.

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.

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