U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from dbGaP

Items: 13

1.
DEFINING DISABILITY: DEVELOPMENT AND VALIDATION OF A DISABILITY SEVERITY INDEX IN INHERITED NEUROPATHY
Sindhu Ramchandren, Michael E. Shy, Eva L. Feldman, Ruth C. Carlos, Carly Siskind
J Neurol Neurosurg Psychiatry. Author manuscript; available in PMC 2016 Jun 24.
Published in final edited form as: J Neurol Neurosurg Psychiatry. 2015 Jun; 86(6): 635–639. Published online 2014 Aug 25. doi: 10.1136/jnnp-2013-307390
PMCID:
PMC4920058
AbstractArticlePDF–141K
2.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
AbstractArticlePDF–960K
3.
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
V Fridman, B Bundy, M M Reilly, D Pareyson, C Bacon, J Burns, J Day, S Feely, R S Finkel, T Grider, C A Kirk, D N Herrmann, M Laurá, J Li, T Lloyd, C J Sumner, F Muntoni, G Piscosquito, S Ramchandren, R Shy, C E Siskind, S W Yum, I Moroni, E Pagliano, S Zuchner, S S Scherer, M E Shy
J Neurol Neurosurg Psychiatry. 2015 Aug; 86(8): 873–878. Published online 2014 Nov 27. doi: 10.1136/jnnp-2014-308826
PMCID:
PMC4516002
AbstractArticlePDF–582K
4.
Natural history and biomarkers in hereditary sensory neuropathy type 1
Vera Fridman, Anne louise Oaklander, William S David, Elise A Johnson, Jessica Pan, Peter Novak, Robert H Brown, Florian S Eichler
Muscle Nerve. 2015 Apr; 51(4): 489–495. Published online 2015 Feb 11. doi: 10.1002/mus.24336
PMCID:
PMC4484799
AbstractArticlePDF–191K
5.
Effect of pain in pediatric inherited neuropathies
Sindhu Ramchandren, Mamta Jaiswal, Eva Feldman, Michael Shy
Neurology. 2014 Mar 4; 82(9): 793–797. doi: 10.1212/WNL.0000000000000173
PMCID:
PMC3945655
AbstractArticlePDF–236K
6.
X-linked Charcot-Marie-Tooth disease
Steven S. Scherer, Kleopas A. Kleopa
J Peripher Nerv Syst. Author manuscript; available in PMC 2013 Sep 21.
Published in final edited form as: J Peripher Nerv Syst. 2012 Dec; 17(0 3): 9–13. doi: 10.1111/j.1529-8027.2012.00424.x
PMCID:
PMC3779456
AbstractArticlePDF–608K
7.
Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents and young adults with Charcot-Marie-Tooth disease
Joshua Burns, Manoj Menezes, Richard S. Finkel, Tim Estilow, Isabella Moroni, Emanuela Pagliano, Matilde Laurá, Francesco Muntoni, David N. Herrmann, Kate Eichinger, Rosemary Shy, Davide Pareyson, Mary M. Reilly, Michael E. Shy
J Peripher Nerv Syst. Author manuscript; available in PMC 2014 Jun 1.
Published in final edited form as: J Peripher Nerv Syst. 2013 Jun; 18(2): 177–180. doi: 10.1111/jns5.12024
PMCID:
PMC3714225
AbstractArticlePDF–526K
8.
Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease
Joshua Burns, Robert Ouvrier, Tim Estilow, Rosemary Shy, Matilde Laurá, Kate Eichinger, Francesco Muntoni, Mary M. Reilly, Davide Pareyson, Gyula Acsadi, Michael E. Shy, Richard S. Finkel
Clin Biomech (Bristol, Avon) Author manuscript; available in PMC 2013 Aug 1.
Published in final edited form as: Clin Biomech (Bristol, Avon). 2012 Aug; 27(7): 744–747. Published online 2012 Mar 16. doi: 10.1016/j.clinbiomech.2012.02.006
PMCID:
PMC3389135
AbstractArticlePDF–478K
9.
Validation of the CMT Pediatric Scale as an outcome measure of disability
Joshua Burns, Robert Ouvrier, Tim Estilow, Rosemary Shy, Matilde Laurá, Julie F. Pallant, Monkol Lek, Francesco Muntoni, Mary M. Reilly, Davide Pareyson, Gyula Acsadi, Michael E. Shy, Richard S. Finkel
Ann Neurol. Author manuscript; available in PMC 2013 May 1.
Published in final edited form as: Ann Neurol. 2012 May; 71(5): 642–652. doi: 10.1002/ana.23572
PMCID:
PMC3335189
AbstractArticlePDF–452K
10.
The debut of a rational treatment for an inherited neuropathy?
Steven S. Scherer
J Clin Invest. 2011 Dec 1; 121(12): 4624–4627. Published online 2011 Nov 1. doi: 10.1172/JCI60511
PMCID:
PMC3226011
AbstractArticlePDF–724K
11.
MFN2 mutations cause severe phenotypes in most patients with CMT2A
S.M.E. Feely, M. Laura, C.E. Siskind, S. Sottile, M. Davis, V.S. Gibbons, M.M. Reilly, M.E. Shy
Neurology. 2011 May 17; 76(20): 1690–1696. Published online 2011 Apr 20. doi: 10.1212/WNL.0b013e31821a441e
PMCID:
PMC3100135
AbstractArticlePDF–310K
12.
Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa
Stephan Züchner, Julia Dallman, Rong Wen, Gary Beecham, Adam Naj, Amjad Farooq, Martin A. Kohli, Patrice L. Whitehead, William Hulme, Ioanna Konidari, Yvonne J.K. Edwards, Guiqing Cai, Inga Peter, David Seo, Joseph D. Buxbaum, Jonathan L. Haines, Susan Blanton, Juan Young, Eduardo Alfonso, Jeffery M. Vance, Byron L. Lam, Margaret A. Peričak-Vance
Am J Hum Genet. 2011 Feb 11; 88(2): 201–206. doi: 10.1016/j.ajhg.2011.01.001
PMCID:
PMC3035708
AbstractArticlePDF–738K
13.
Determinants of reduced health-related quality of life in pediatric inherited neuropathies
J. Burns, S. Ramchandren, M.M. Ryan, M. Shy, R.A. Ouvrier
Neurology. 2010 Aug 24; 75(8): 726–731. doi: 10.1212/WNL.0b013e3181eee496
PMCID:
PMC2931653
AbstractArticlePDF–223K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center