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Items: 1 to 20 of 61

1.

Pain in hereditary neuropathy with liability to pressure palsy: an association with fibromyalgia syndrome?

Yilmaz U, Bird TT, Carter GT, Wang LH, Weiss MD.

Muscle Nerve. 2015 Mar;51(3):385-90. doi: 10.1002/mus.24331.

PMID:
25042093
2.

Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience.

Luigetti M, Del Grande A, Conte A, Lo Monaco M, Bisogni G, Romano A, Zollino M, Rossini PM, Sabatelli M.

J Neurol Sci. 2014 Jun 15;341(1-2):46-50. doi: 10.1016/j.jns.2014.03.046. Epub 2014 Mar 31.

PMID:
24726093
3.

Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.

Potulska-Chromik A, Sinkiewicz-Darol E, Ryniewicz B, Lipowska M, Kabzińska D, Kochański A, Kostera-Pruszczyk A.

Muscle Nerve. 2014 Dec;50(6):914-8. doi: 10.1002/mus.24250. Epub 2014 Oct 30.

PMID:
24668782
4.

Abnormal junctions and permeability of myelin in PMP22-deficient nerves.

Guo J, Wang L, Zhang Y, Wu J, Arpag S, Hu B, Imhof BA, Tian X, Carter BD, Suter U, Li J.

Ann Neurol. 2014 Feb;75(2):255-65. doi: 10.1002/ana.24086. Epub 2014 Feb 20.

5.

Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation.

Yurrebaso I, Casado OL, Barcena J, Perez de Nanclares G, Aguirre U.

Neuromuscul Disord. 2014 Jan;24(1):56-62. doi: 10.1016/j.nmd.2013.09.005. Epub 2013 Sep 13.

PMID:
24239057
6.

Is carpal tunnel decompression warranted for HNPP?

Earle N, Zochodne DW.

J Peripher Nerv Syst. 2013 Dec;18(4):331-5. doi: 10.1111/jns5.12047.

PMID:
24171697
7.

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated to hereditary neuropathy with liability to pressure palsies (HNPP) and revealed after influenza AH1N1 vaccination.

Remiche G, Abramowicz M, Mavroudakis N.

Acta Neurol Belg. 2013 Dec;113(4):519-22. doi: 10.1007/s13760-013-0255-x. Epub 2013 Oct 22.

PMID:
24146347
8.

Ethical and policy issues in genetic testing and screening of children.

COMMITTEE ON BIOETHICS.; COMMITTEE ON GENETICS, AND.; AMERICAN COLLEGE OF MEDICAL GENETICS AND.; GENOMICS SOCIAL.; ETHICAL.; LEGAL ISSUES COMMITTEE..

Pediatrics. 2013 Mar;131(3):620-2. doi: 10.1542/peds.2012-3680. Epub 2013 Feb 21.

9.

Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed.

Koehler PJ, Baas F.

J Peripher Nerv Syst. 2012 Dec;17(4):412-3. doi: 10.1111/j.1529-8027.2012.00440.x.

PMID:
23279343
10.

Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study.

Chanson JB, Echaniz-Laguna A, Blanc F, Lacour A, Ballonzoli L, Kremer S, Namer IJ, Lannes B, Tranchant C, Vermersch P, de Seze J.

J Neurol Neurosurg Psychiatry. 2013 Apr;84(4):392-7. doi: 10.1136/jnnp-2012-303725. Epub 2012 Dec 15.

PMID:
23243264
11.

Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.

Taioli F, Cabrini I, Cavallaro T, Acler M, Fabrizi GM.

Brain. 2011 Feb;134(Pt 2):608-17. doi: 10.1093/brain/awq374. Epub 2011 Jan 19.

PMID:
21252112
12.

Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1.

Abe A, Nakamura K, Kato M, Numakura C, Honma T, Seiwa C, Shirahata E, Itoh A, Kishikawa Y, Hayasaka K.

J Hum Genet. 2010 Nov;55(11):771-3. doi: 10.1038/jhg.2010.106. Epub 2010 Aug 26.

PMID:
20739940
13.

A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies.

Moszyńska I, Kabzińska D, Sinkiewicz-Darol E, Kochański A.

Acta Biochim Pol. 2009;56(4):627-30. Epub 2009 Oct 15.

14.

Phenotypic Variability Leads to Under-recognition of HNPP.

Kumar N, Muley S, Pakiam A, Parry GJ.

J Clin Neuromuscul Dis. 2002 Mar;3(3):106-12.

PMID:
19078663
15.

Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.

Al-Thihli K, Rudkin T, Carson N, Poulin C, Melançon S, Der Kaloustian VM.

Am J Med Genet A. 2008 Sep 15;146A(18):2412-6. doi: 10.1002/ajmg.a.32456.

PMID:
18698610
16.

Hereditary neuropathy with liability to pressure palsies: description of seven patients without known family history.

Beydoun SR, Sykes SN, Ganguly G, Lee TS.

Acta Neurol Scand. 2008 Apr;117(4):266-72. Epub 2007 Oct 8.

PMID:
17922888
17.

A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.

Muglia M, Patitucci A, Rizzi R, Ungaro C, Conforti FL, Gabriele AL, Magariello A, Mazzei R, Motti L, Sabadini R, Sprovieri T, Marcello N, Quattrone A.

J Neurol Sci. 2007 Dec 15;263(1-2):194-7. Epub 2007 Aug 20.

PMID:
17707409
18.

Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.

Li J, Ghandour K, Radovanovic D, Shy RR, Krajewski KM, Shy ME, Nicholson GA.

Arch Neurol. 2007 Jul;64(7):974-8. Erratum in: Arch Neurol. 2007 Oct;64(10):1547. Radovanovic, Danuijola [corrected to Radovanovic, Danijela].

PMID:
17620487
19.

CNS involvement in hereditary neuropathy with pressure palsies (HNPP).

Tackenberg B, Möller JC, Rindock H, Bien S, Sommer N, Oertel WH, Rosenow F, Schepelmann K, Hamer HM, Bandmann O.

Neurology. 2006 Dec 26;67(12):2250-2.

PMID:
17190957
20.

[Hereditary neuropathy with liability to pressure palsies (HNPP) in hand surgery: reminds and warn against a usually unrecognised disease].

Lazar CC, Auquit-Auckbur I, Milliez PY.

Ann Chir Plast Esthet. 2007 Dec;52(6):606-8. Epub 2006 Oct 6. French.

PMID:
17030391

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