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Items: 1 to 50 of 102

1.

Measuring peripheral nerve involvement in Friedreich's ataxia.

Creigh PD, Mountain J, Sowden JE, Eichinger K, Ravina B, Larkindale J, Herrmann DN.

Ann Clin Transl Neurol. 2019 Aug 15. doi: 10.1002/acn3.50865. [Epub ahead of print]

2.

Clinician-rated measures for distal symmetrical axonal polyneuropathy: ACTTION systematic review.

Gewandter JS, Gibbons CH, Campagnolo M, Lee J, Chaudari J, Ward N, Burke L, Cavaletti G, Herrmann DN, McArthur JC, Russell JW, Smith AG, Smith SM, Turk DC, Dworkin RH, Freeman R.

Neurology. 2019 Jul 18. pii: 10.1212/WNL.0000000000007974. doi: 10.1212/WNL.0000000000007974. [Epub ahead of print] Review.

PMID:
31320471
3.

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
4.

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
5.

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.

6.

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
7.

Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.

Mandarakas MR, Menezes MP, Rose KJ, Shy R, Eichinger K, Foscan M, Estilow T, Kennedy R, Herbert K, Bray P, Refshauge K, Ryan MM, Yiu EM, Farrar M, Sampaio H, Moroni I, Pagliano E, Pareyson D, Yum SW, Herrmann DN, Acsadi G, Shy ME, Burns J, Sanmaneechai O.

Brain. 2019 Apr 1;142(4):e14. doi: 10.1093/brain/awy332. No abstract available.

8.

Electrodiagnostic consultations in Zambia: Referral characteristics and neuromuscular disorders.

Kvalsund M, Mukomena P, Chidumayo T, Birbeck GL, Andary M, Horner M, Herrmann DN.

J Neurol Sci. 2019 Feb 15;397:150-154. doi: 10.1016/j.jns.2018.12.003. Epub 2018 Dec 4.

PMID:
30634131
9.

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.

Mandarakas MR, Menezes MP, Rose KJ, Shy R, Eichinger K, Foscan M, Estilow T, Kennedy R, Herbert K, Bray P, Refshauge K, Ryan MM, Yiu EM, Farrar M, Sampaio H, Moroni I, Pagliano E, Pareyson D, Yum SW, Herrmann DN, Acsadi G, Shy ME, Burns J, Sanmaneechai O.

Brain. 2018 Dec 1;141(12):3319-3330. doi: 10.1093/brain/awy280. Erratum in: Brain. 2019 Apr 1;142(4):e14.

PMID:
30476010
10.

The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM).

Eichinger K, Burns J, Cornett K, Bacon C, Shepherd ML, Mountain J, Sowden J, Shy R, Shy ME, Herrmann DN.

Neurology. 2018 Oct 9;91(15):e1381-e1384. doi: 10.1212/WNL.0000000000006323. Epub 2018 Sep 19.

PMID:
30232254
11.

The Charcot-Marie-Tooth Health Index: Evaluation of a Patient-Reported Outcome.

Johnson NE, Heatwole C, Creigh P, McDermott MP, Dilek N, Hung M, Bounsanga J, Tang W, Shy ME, Herrmann DN.

Ann Neurol. 2018 Aug;84(2):225-233. doi: 10.1002/ana.25282. Epub 2018 Aug 29.

PMID:
30014533
12.

Somatotopic heat pain thresholds and intraepidermal nerve fibers in health.

Davies JL, Engelstad JK Sr.,, E Gove L, Linbo LK, Carter RE, Lynch C, Staff NP, Klein CJ, Dyck PJB, Herrmann DN, Dyck PJ.

Muscle Nerve. 2018 Oct;58(4):509-516. doi: 10.1002/mus.26128. Epub 2018 Apr 20.

PMID:
29543981
13.

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.

14.

Pediatric CIDP: Clinical Features and Response to Treatment.

Harada Y, Herrmann DN, Logigian EL.

J Clin Neuromuscul Dis. 2017 Dec;19(2):57-65. doi: 10.1097/CND.0000000000000179.

PMID:
29189550
15.

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
16.

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.

17.

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.

18.

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.

19.

In-vivo reflectance confocal microscopy of Meissner's corpuscles in diabetic distal symmetric polyneuropathy.

Creigh PD, McDermott MP, Sowden JE, Ferguson M, Herrmann DN.

J Neurol Sci. 2017 Jul 15;378:213-219. doi: 10.1016/j.jns.2017.05.025. Epub 2017 May 12.

20.

Hereditary Neuropathy With Liability to Pressure Palsies: Diverse Phenotypes in Childhood.

Harada Y, Puwanant A, Herrmann DN.

J Clin Neuromuscul Dis. 2016 Dec;18(2):79-83.

PMID:
27861220
21.

Patient Reported Falls and Balance Confidence in Individuals with Charcot-Marie-Tooth Disease.

Eichinger K, Odrzywolski K, Sowden J, Herrmann DN.

J Neuromuscul Dis. 2016 May 27;3(2):289-292.

PMID:
27854223
22.

Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.

Panosyan FB, Tawil R, Herrmann DN.

Muscle Nerve. 2017 Jun;55(6):922-927. doi: 10.1002/mus.25453. Epub 2017 Feb 12.

PMID:
27783406
23.

Content validity of symptom-based measures for diabetic, chemotherapy, and HIV peripheral neuropathy.

Gewandter JS, Burke L, Cavaletti G, Dworkin RH, Gibbons C, Gover TD, Herrmann DN, Mcarthur JC, McDermott MP, Rappaport BA, Reeve BB, Russell JW, Smith AG, Smith SM, Turk DC, Vinik AI, Freeman R.

Muscle Nerve. 2017 Mar;55(3):366-372. doi: 10.1002/mus.25264. Epub 2016 Dec 23. Review.

24.

Rydel-Seiffer fork revisited: Beyond a simple case of black and white.

Panosyan FB, Mountain JM, Reilly MM, Shy ME, Herrmann DN.

Neurology. 2016 Aug 16;87(7):738-40. doi: 10.1212/WNL.0000000000002991. Epub 2016 Jul 13. No abstract available.

25.

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.

Cornett KM, Menezes MP, Bray P, Halaki M, Shy RR, Yum SW, Estilow T, Moroni I, Foscan M, Pagliano E, Pareyson D, Laurá M, Bhandari T, Muntoni F, Reilly MM, Finkel RS, Sowden J, Eichinger KJ, Herrmann DN, Shy ME, Burns J; Inherited Neuropathies Consortium.

JAMA Neurol. 2016 Jun 1;73(6):645-51. doi: 10.1001/jamaneurol.2016.0171.

26.

Pain in acquired inflammatory demyelinating polyneuropathies.

Thakur S, Dworkin RH, Freeman R, Gorson KC, Herrmann DN.

Pain. 2016 Sep;157(9):1887-94. doi: 10.1097/j.pain.0000000000000539. Review. No abstract available.

PMID:
26945234
27.

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.

Whittaker RG, Herrmann DN, Bansagi B, Hasan BA, Lofra RM, Logigian EL, Sowden JE, Almodovar JL, Littleton JT, Zuchner S, Horvath R, Lochmüller H.

Neurology. 2015 Dec 1;85(22):1964-71. doi: 10.1212/WNL.0000000000002185. Epub 2015 Oct 30.

28.

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC).

Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25.

29.

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.

30.

Trigeminal trophic syndrome with histopathologic correlation.

Dolohanty LB, Richardson SJ, Herrmann DN, Markman J, Mercurio MG.

Cutis. 2015 Mar;95(3):E22-5.

PMID:
25844791
31.

Exploring the role of tanezumab as a novel treatment for the relief of neuropathic pain.

Bramson C, Herrmann DN, Carey W, Keller D, Brown MT, West CR, Verburg KM, Dyck PJ.

Pain Med. 2015 Jun;16(6):1163-76. doi: 10.1111/pme.12677. Epub 2015 Jan 16.

PMID:
25594611
32.

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.

33.

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.

Fridman V, Bundy B, Reilly MM, Pareyson D, Bacon C, Burns J, Day J, Feely S, Finkel RS, Grider T, Kirk CA, Herrmann DN, Laurá M, Li J, Lloyd T, Sumner CJ, Muntoni F, Piscosquito G, Ramchandren S, Shy R, Siskind CE, Yum SW, Moroni I, Pagliano E, Zuchner S, Scherer SS, Shy ME; Inherited Neuropathies Consortium.

J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):873-8. doi: 10.1136/jnnp-2014-308826. Epub 2014 Nov 27.

34.

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.

Herrmann DN, Horvath R, Sowden JE, Gonzalez M, Sanchez-Mejias A, Guan Z, Whittaker RG, Almodovar JL, Lane M, Bansagi B, Pyle A, Boczonadi V, Lochmüller H, Griffin H, Chinnery PF, Lloyd TE, Littleton JT, Zuchner S.

Am J Hum Genet. 2014 Sep 4;95(3):332-9. doi: 10.1016/j.ajhg.2014.08.007. Erratum in: Am J Hum Genet. 2014 Oct 2;95(4):472. Gonzales, Michael [corrected to Gonzalez, Michael].

35.

Quality-of-life in Charcot-Marie-Tooth disease: the patient's perspective.

Johnson NE, Heatwole CR, Dilek N, Sowden J, Kirk CA, Shereff D, Shy ME, Herrmann DN; Inherited Neuropathies Consortium.

Neuromuscul Disord. 2014 Nov;24(11):1018-23. doi: 10.1016/j.nmd.2014.06.433. Epub 2014 Jun 27.

36.

Nerve safety of tanezumab, a nerve growth factor inhibitor for pain treatment.

Brown MT, Herrmann DN, Goldstein M, Burr AM, Smith MD, West CR, Verburg KM, Dyck PJ.

J Neurol Sci. 2014 Oct 15;345(1-2):139-47. doi: 10.1016/j.jns.2014.07.028. Epub 2014 Jul 18.

PMID:
25073573
37.

Prospective study of muscle cramps in Charcot-Marie-tooth disease.

Johnson NE, Sowden J, Dilek N, Eichinger K, Burns J, Mcdermott MP, Shy ME, Herrmann DN.

Muscle Nerve. 2015 Apr;51(4):485-8. doi: 10.1002/mus.24333. Epub 2015 Feb 11.

38.

Autonomic evaluation is independent of somatic evaluation for small fiber neuropathy.

Thaisetthawatkul P, Fernandes Filho JA, Herrmann DN.

J Neurol Sci. 2014 Sep 15;344(1-2):51-4. doi: 10.1016/j.jns.2014.06.017. Epub 2014 Jun 18.

PMID:
24972819
39.

Chemotherapy-induced peripheral neurotoxicity and ototoxicity: new paradigms for translational genomics.

Travis LB, Fossa SD, Sesso HD, Frisina RD, Herrmann DN, Beard CJ, Feldman DR, Pagliaro LC, Miller RC, Vaughn DJ, Einhorn LH, Cox NJ, Dolan ME; Platinum Study Group.

J Natl Cancer Inst. 2014 Mar 12;106(5). pii: dju044. doi: 10.1093/jnci/dju044. Review.

40.

Assessing decreased sensation and increased sensory phenomena in diabetic polyneuropathies.

Dyck PJ, Herrmann DN, Staff NP, Dyck PJ.

Diabetes. 2013 Nov;62(11):3677-86. doi: 10.2337/db13-0352. Review.

41.

Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A.

Johnson NE, Heatwole CR, Ferguson M, Sowden JE, Jeanat S, Herrmann DN.

J Clin Neuromuscul Dis. 2013 Sep;15(1):19-23. doi: 10.1097/CND.0b013e31829e22e3.

42.

High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial.

Lewis RA, McDermott MP, Herrmann DN, Hoke A, Clawson LL, Siskind C, Feely SM, Miller LJ, Barohn RJ, Smith P, Luebbe E, Wu X, Shy ME; Muscle Study Group.

JAMA Neurol. 2013 Aug;70(8):981-7. doi: 10.1001/jamaneurol.2013.3178.

43.

Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease.

Burns J, Menezes M, Finkel RS, Estilow T, Moroni I, Pagliano E, Laurá M, Muntoni F, Herrmann DN, Eichinger K, Shy R, Pareyson D, Reilly MM, Shy ME.

J Peripher Nerv Syst. 2013 Jun;18(2):177-80. doi: 10.1111/jns5.12024.

44.

Electrodiagnosis of ulnar neuropathy at the elbow (Une): a Bayesian approach.

Logigian EL, Villanueva R, Twydell PT, Myers B, Downs M, Preston DC, Kothari MJ, Herrmann DN.

Muscle Nerve. 2014 Mar;49(3):337-44. doi: 10.1002/mus.23913. Epub 2013 Jun 26.

PMID:
23716377
45.

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.

46.

Contribution of QSART to the diagnosis of small fiber neuropathy.

Thaisetthawatkul P, Fernandes Filho JA, Herrmann DN.

Muscle Nerve. 2013 Dec;48(6):883-8. doi: 10.1002/mus.23891. Epub 2013 Oct 4.

PMID:
23649502
47.

Epidermal nerve fibers: confidence intervals and continuous measures with nerve conduction.

Engelstad JK, Taylor SW, Witt LV, Hoebing BJ, Herrmann DN, Dyck PJ, Klein CJ, Johnson DM, Davies JL, Carter RE, Dyck PJ.

Neurology. 2012 Nov 27;79(22):2187-93. doi: 10.1212/WNL.0b013e3182759608. Epub 2012 Oct 24.

48.

Multifocal acquired demyelinating sensory and motor neuropathy.

Puwanant A, Herrmann DN.

Neurology. 2012 Oct 16;79(16):1742. doi: 10.1212/WNL.0b013e31826e9b62. No abstract available.

49.

HIV neuropathy: an in vivo confocal microscopic study.

Almodovar JL, Schifitto G, McDermott MP, Ferguson M, Herrmann DN.

J Neurovirol. 2012 Dec;18(6):503-10. doi: 10.1007/s13365-012-0130-1. Epub 2012 Oct 16.

50.

Noninvasive microscopic imaging of sensory receptors in neuropathy.

Johnson NE, Herrmann DN.

Neurology. 2012 May 29;78(22):1803. doi: 10.1212/WNL.0b013e31825830d2. No abstract available.

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