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Saturday, July 20:  All UR Medicine facilities are open as scheduled and providing safe patient care, with a goal to return all clinical services to full efficiency by early next week.
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UR Medicine



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.


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; on behalf of the Inherited Neuropathies Consortium.

J Neurol Neurosurg Psychiatry. 2014 Nov 27. pii: jnnp-2014-308826. doi: 10.1136/jnnp-2014-308826. [Epub ahead of print]


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].


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.


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.


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.


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.


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.


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.


Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.

Murphy SM, Herrmann DN, McDermott MP, Scherer SS, Shy ME, Reilly MM, Pareyson D.

J Peripher Nerv Syst. 2011 Sep;16(3):191-8. doi: 10.1111/j.1529-8027.2011.00350.x.


In vivo confocal microscopy of Meissner corpuscles as a novel sensory measure in CMT1A.

Almodovar JL, Ferguson M, McDermott MP, Lewis RA, Shy ME, Herrmann DN.

J Peripher Nerv Syst. 2011 Sep;16(3):169-74. doi: 10.1111/j.1529-8027.2011.00342.x.


Neuropathy progression in Charcot-Marie-Tooth disease type 1A.

Shy ME, Chen L, Swan ER, Taube R, Krajewski KM, Herrmann D, Lewis RA, McDermott MP.

Neurology. 2008 Jan 29;70(5):378-83. doi: 10.1212/01.wnl.0000297553.36441.ce.


Experimental therapeutics in hereditary neuropathies: the past, the present, and the future.

Herrmann DN.

Neurotherapeutics. 2008 Oct;5(4):507-15. doi: 10.1016/j.nurt.2008.07.001. Review.


A "nerve" ending story in the identification of mutations in Charcot-Marie-Tooth neuropathy.

Timmerman V, Herrmann DN.

Neurology. 2006 Oct 10;67(7):1114-5. No abstract available.


Genotype-phenotype correlation in a family with late onset CMT and an MPZ lys236del mutation.

Sowden JE, Logigian EL, Malik K, Herrmann DN.

J Neurol Neurosurg Psychiatry. 2005 Mar;76(3):442-4.


HNPP due to a novel missense mutation of the PMP22 gene.

Nodera H, Nishimura M, Logigian EL, Herrmann DN, Kaji R.

Neurology. 2003 Jun 10;60(11):1863-4. No abstract available.


LEMS in the shadow of a hereditary polyneuropathy.

Nodera H, Logigian EL, Herrmann DN.

Muscle Nerve. 2003 May;27(5):636-7. No abstract available.