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Select item 90693911.

Effective treatment of advanced Hodgkin lymphoma with a modified BEACOPP regimen for a patient with demyelinating hereditary motor and sensory neuropathy type 1 (HMSN1)

Patrick P. Hess, Monica S. Ventura Ferreira, Benjamin Rolles, Martin Kirschner, Florian Holtbernd, Mareike Tometten, Tim H. Brümmendorf, Fabian Beier

Clin Case Rep. 2022 May; 10(5): e05766. Published online 2022 May 5. doi: 10.1002/ccr3.5766

PMCID:: PMC9069391

Abstract Article PDF–682K

Select item 80324202.

Selective Bilateral Vestibular Neuropathy in a Turkish CMT1B Family With a Novel MPZ Mutation

Gülden Akdal, Koray Koçoğlu, Elçin Bora, Altuğ Koç, Ayfer Ülgenalp, Mithat Bedir, Rahmi Tümay Ala, Esra Battaloğlu, Günay Kırkım, İhsan Şükrü Şengün, Gábor Michael Halmágyi

Neurol Clin Pract. 2021 Apr; 11(2): e129–e134. doi: 10.1212/CPJ.0000000000000930

PMCID:: PMC8032420

Abstract Article PDF–623K

Select item 75746533.

Phosphorylation of eIF2α Promotes Schwann Cell Differentiation and Myelination in CMT1B Mice with Activated UPR

Cristina Scapin, Cinzia Ferri, Emanuela Pettinato, Francesca Bianchi, Ubaldo Del Carro, M. Laura Feltri, Randal J. Kaufman, Lawrence Wrabetz, Maurizio D'Antonio

J Neurosci. 2020 Oct 14; 40(42): 8174–8187. doi: 10.1523/JNEUROSCI.0957-20.2020

PMCID:: PMC7574653

Abstract Article PDF–4.7M

Select item 64880994.

Schwann cells ER-associated degradation contributes to myelin maintenance in adult nerves and limits demyelination in CMT1B mice

Vera G. Volpi, Cinzia Ferri, Ilaria Fregno, Ubaldo Del Carro, Francesca Bianchi, Cristina Scapin, Emanuela Pettinato, Tatiana Solda, M. Laura Feltri, Maurizio Molinari, Lawrence Wrabetz, Maurizio D’Antonio

PLoS Genet. 2019 Apr; 15(4): e1008069. Published online 2019 Apr 17. doi: 10.1371/journal.pgen.1008069

PMCID:: PMC6488099

Abstract Article PDF–6.9M

Select item 58999175.

Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B

Yunhong Bai, Xingyao Wu, Kathryn M. Brennan, David S. Wang, Maurizio D'Antonio, John Moran, John Svaren, Michael E. Shy

Ann Clin Transl Neurol. 2018 Apr; 5(4): 445–455. Published online 2018 Mar 10. doi: 10.1002/acn3.543

PMCID:: PMC5899917

Abstract Article PDF–975K

Select item 39155626.

Unfolded protein response, treatment and CMT1B

Yunhong Bai, Agnes Patzko, Michael E. Shy

Rare Dis. 2013; 1: e24049. Published online 2013 Feb 20. doi: 10.4161/rdis.24049

PMCID:: PMC3915562

Abstract Article PDF–376K

Select item 28476497.

A patient with Neurofibromatosis type 1 and Charcot-Marie-Tooth Disease type 1B

Eric Lancaster, Lauren B. Elman, Steven S. Scherer

Muscle Nerve. Author manuscript; available in PMC 2011 Apr 1.

Published in final edited form as: Muscle Nerve. 2010 Apr; 41(4): 555–558. doi: 10.1002/mus.21546

PMCID:: PMC2847649

Abstract Article PDF–192K

Select item 24672978.

Complete heart block in patients with peroneal muscular atrophy

B. A. J. Ponder, K. Chatterjee, G. C. Sutton

Postgrad Med J. 1971 Sep; 47(551): 595–598. doi: 10.1136/pgmj.47.551.595

PMCID:: PMC2467297

Summary Page Browse PDF–1.0M

Select item 24175879.

Peroneal muscular atrophy associated with cardiac conducting tissue disease: further observations

Patricia J. Lowry, William A. Littler

Postgrad Med J. 1983 Aug; 59(694): 530–532. doi: 10.1136/pgmj.59.694.530

PMCID:: PMC2417587

Summary Page Browse PDF–627K

Select item 175735310.

Clinical and genetic heterogeneity in peroneal muscular atrophy associated with vocal cord weakness

M McEntagart, M Dunstan, C Bell, E Boltshauser, M Donaghy, P Harper, N Williams, M Teare, N Rahman

J Neurol Neurosurg Psychiatry. 2002 Dec; 73(6): 762–765. doi: 10.1136/jnnp.73.6.762

PMCID:: PMC1757353

Summary PDF–142K

Select item 173721711.

Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene

A Lagueny, P Latour, A Vital, G Le Masson, M Rouanet, X Ferrer, C Vital, A Vandenberghe

J Neurol Neurosurg Psychiatry. 2001 Feb; 70(2): 232–235. doi: 10.1136/jnnp.70.2.232

PMCID:: PMC1737217

Summary PDF–134K

Select item 107318412.

Peroneal muscular atrophy with pyramidal tract features (hereditary motor and sensory neuropathy type V): a clinical, neurophysiological, and pathological study of a large kindred.

J A Frith, J G McLeod, G A Nicholson, F Yang

J Neurol Neurosurg Psychiatry. 1994 Nov; 57(11): 1343–1346. doi: 10.1136/jnnp.57.11.1343

PMCID:: PMC1073184

Summary Page Browse PDF–677K

Select item 105013013.

Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

E Nelis, V Timmerman, P De Jonghe, L Muylle, J J Martin, C Van Broeckhoven

J Med Genet. 1994 Oct; 31(10): 811–815. doi: 10.1136/jmg.31.10.811

PMCID:: PMC1050130

Summary Page Browse PDF–911K

Select item 102768714.

Peroneal muscular atrophy with pyramidal features.

A E Harding, P K Thomas

J Neurol Neurosurg Psychiatry. 1984 Feb; 47(2): 168–172. doi: 10.1136/jnnp.47.2.168

PMCID:: PMC1027687

Summary Page Browse PDF–881K

Select item 49456415.

Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity

P. K. Thomas, D. B. Calne

J Neurol Neurosurg Psychiatry. 1974 Jan; 37(1): 68–75. doi: 10.1136/jnnp.37.1.68

PMCID:: PMC494564

Summary Page Browse PDF–1.0M

Select item 49414416.

Pathology of peroneal muscular atrophy (Charcot-Marie-Tooth disease)

J. Trevor Hughes, Betty Brownell

J Neurol Neurosurg Psychiatry. 1972 Oct; 35(5): 648–657. doi: 10.1136/jnnp.35.5.648

PMCID:: PMC494144

Summary Page Browse PDF–2.7M

Select item 1037906317.

The Current State of Charcot–Marie–Tooth Disease Treatment

Yuji Okamoto, Hiroshi Takashima

Genes (Basel) 2023 Jul; 14(7): 1391. Published online 2023 Jul 1. doi: 10.3390/genes14071391

PMCID:: PMC10379063

Abstract Article PDF–305K

Select item 980638118.

Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot–Marie–Tooth disease in a Russian family: a case report

Anastasiya Aleksandrovna Kozina, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Nikolay Alekseevich Plotnikov, Nadezhda Andreevna Pogodina, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky

J Int Med Res. 2022 Dec; 50(12): 03000605221139718. Published online 2022 Dec 25. doi: 10.1177/03000605221139718