Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 134

1.

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 Aug 25. pii: awv241. [Epub ahead of print]

PMID:
26310628
2.

Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease.

Brennan KM, Bai Y, Pisciotta C, Wang S, Feely SM, Hoegger M, Gutmann L, Moore SA, Gonzalez M, Sherman DL, Brophy PJ, Züchner S, Shy ME.

Neuromuscul Disord. 2015 Jul 7. pii: S0960-8966(15)00659-8. doi: 10.1016/j.nmd.2015.07.001. [Epub ahead of print]

PMID:
26227883
3.

A case of neuromyotonia and axonal motor neuropathy: A report of a HINT 1 mutation in the United States.

Jerath NU, Shy ME, Grider T, Gutmann L.

Muscle Nerve. 2015 Jul 16. doi: 10.1002/mus.24774. [Epub ahead of print]

PMID:
26182879
4.

Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.

Pisciotta C, Bai Y, Brennan KM, Wu X, Grider T, Feely S, Wang S, Moore S, Siskind C, Gonzalez M, Zuchner S, Shy ME.

Neurology. 2015 Jul 21;85(3):228-34. doi: 10.1212/WNL.0000000000001773. Epub 2015 Jun 24.

PMID:
26109717
5.

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.

Strickland AV, Schabhüttl M, Offenbacher H, Synofzik M, Hauser NS, Brunner-Krainz M, Gruber-Sedlmayr U, Moore SA, Windhager R, Bender B, Harms M, Klebe S, Young P, Kennerson M, Garcia AS, Gonzalez MA, Züchner S, Schule R, Shy ME, Auer-Grumbach M.

J Neurol. 2015 Jun 24. [Epub ahead of print]

PMID:
26100331
6.

Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion.

Jerath NU, Kamholz J, Grider T, Harper A, Swenson A, Shy ME.

Muscle Nerve. 2015 May 26. doi: 10.1002/mus.24713. [Epub ahead of print]

PMID:
26012543
7.

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.

Jerath NU, Crockett CD, Moore SA, Shy ME, Weihl CC, Chou TF, Grider T, Gonzalez MA, Zuchner S, Swenson A.

Case Rep Genet. 2015;2015:239167. doi: 10.1155/2015/239167. Epub 2015 Mar 23.

8.

Demyelinating CMT--what's known, what's new and what's in store?

Brennan KM, Bai Y, Shy ME.

Neurosci Lett. 2015 Jun 2;596:14-26. doi: 10.1016/j.neulet.2015.01.059. Epub 2015 Jan 24. Review.

PMID:
25625223
9.

Inclusion body myositis and sarcoid myopathy: coincidental occurrence or associated diseases.

Sanmaneechai O, Swenson A, Gerke AK, Moore SA, Shy ME.

Neuromuscul Disord. 2015 Apr;25(4):297-300. doi: 10.1016/j.nmd.2014.12.005. Epub 2014 Dec 19.

PMID:
25599912
10.

Small nerve fiber involvement in CMT1A.

Nolano M, Manganelli F, Provitera V, Pisciotta C, Stancanelli A, Caporaso G, Iodice R, Shy ME, Santoro L.

Neurology. 2015 Jan 27;84(4):407-14. doi: 10.1212/WNL.0000000000001188. Epub 2014 Dec 24.

PMID:
25540311
11.

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.

12.

Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis.

Sadjadi R, Reilly MM, Shy ME, Pareyson D, Laura M, Murphy S, Feely SM, Grider T, Bacon C, Piscosquito G, Calabrese D, Burns TM.

J Peripher Nerv Syst. 2014 Sep;19(3):192-6. doi: 10.1111/jns.12084.

PMID:
25400013
13.

Ultrasound: the future for evaluating the PNS in humans?

Shy ME.

J Neurol Neurosurg Psychiatry. 2015 Apr;86(4):362. doi: 10.1136/jnnp-2014-308855. Epub 2014 Sep 22. No abstract available.

PMID:
25246646
14.

A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.

Gonzalez MA, Feely SM, Speziani F, Strickland AV, Danzi M, Bacon C, Lee Y, Chou TF, Blanton SH, Weihl CC, Zuchner S, Shy ME.

Brain. 2014 Nov;137(Pt 11):2897-902. doi: 10.1093/brain/awu224. Epub 2014 Aug 14.

PMID:
25125609
15.

Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies.

Jerath NU, Shy ME.

Biochim Biophys Acta. 2015 Apr;1852(4):667-78. doi: 10.1016/j.bbadis.2014.07.031. Epub 2014 Aug 6.

PMID:
25108281
16.

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.

PMID:
25092060
17.

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients.

Mannil M, Solari A, Leha A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Walter MC, Rautenstrauss B, Schnizer TJ, Schenone A, Seeman P, Kadian C, Schreiber O, Angarita NG, Fabrizi GM, Gemignani F, Padua L, Santoro L, Quattrone A, Vita G, Calabrese D; CMT-TRIAAL/CMT-TRAUK Group, Young P, Laurà M, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Shy ME, Reilly MM, Pareyson D, Sereda MW.

Neuromuscul Disord. 2014 Nov;24(11):1003-17. doi: 10.1016/j.nmd.2014.06.431. Epub 2014 Jun 19.

PMID:
25085517
18.

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.

PMID:
25042364
19.

Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.

Brewer MH, Ma KH, Beecham GW, Gopinath C, Baas F, Choi BO, Reilly MM, Shy ME, Züchner S, Svaren J, Antonellis A.

Hum Mol Genet. 2014 Oct 1;23(19):5171-87. doi: 10.1093/hmg/ddu240. Epub 2014 May 15.

PMID:
24833716
20.

Meeting report: 2013 Peripheral Nerve Society Biennial Meeting, Saint-Malo, France, June 29-July 3, 2013.

Nobile-Orazio E, Léger JM, Lewis RA, Bolino A, Shy ME, Cornblath DR.

J Peripher Nerv Syst. 2013 Sep;18(3):197-8. doi: 10.1111/jns5.12041. No abstract available.

PMID:
24028187
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk