Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.

J Neurol. 2010 May 12 Lee YC, Lin KP, Chang MH, Liao YC, Tsai CP, Liao KK, Soong BW. Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan, ROC. Abstract Mutations in MPZ, which encodes myelin protein zero Continue reading Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.

Bioavailability of Curcumin: Problems and Promises

Mol Pharm. 2007 Nov 14 Anand P, Kunnumakkara AB, Newman RA, Aggarwal BB. Cytokine Research Laboratory and Pharmaceutical Development Center, Department of Experimental Therapeutics, The University of Texas M. D. Anderson Cancer Center, Houston, Texas 77030 Curcumin, a polyphenolic compound Continue reading Bioavailability of Curcumin: Problems and Promises

Oral Curcumin Mitigates the Clinical and Neuropathologic Phenotype of the Trembler-J Mouse: A Potential Therapy for Inherited Neuropathy

Author(s) Mehrdad Khajavi, Kensuke Shiga, Wojciech Wiszniewski, Feng He, Chad A. Shaw, Jiong Yan, Theodore G. Wensel, G. Jackson Snipes, and James R. Lupski The American Journal of Human Genetics, volume 81 (2007), page 000 DOI: 10.1086/519926 Abstract Mutations in Continue reading Oral Curcumin Mitigates the Clinical and Neuropathologic Phenotype of the Trembler-J Mouse: A Potential Therapy for Inherited Neuropathy

Onset and duration of mivacurium-induced neuromuscular blockade in children with Charcot-Marie-Tooth disease. A case series with five children.

Paediatr Anaesth. 2006 Feb;16(2):182-7. Schmitt HJ, Wick S, Munster T. Department of Anaesthesiology, The Department is part of the Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany. Summary Background: The Charcot-Marie-Tooth (CMT) disorders are a group of hereditary motor and sensory neuropathies characterized Continue reading Onset and duration of mivacurium-induced neuromuscular blockade in children with Charcot-Marie-Tooth disease. A case series with five children.

Molecular alterations resulting from frameshift mutations in peripheral myelin protein 22: Implications for neuropathy severity

J Neurosci Res. 2005 Nov 4 Johnson JS, Roux KJ, Fletcher BS, Fortun J, Notterpek L. Department of Neuroscience, College of Medicine, McKnight Brain Institute, University of Florida, Gainesville, Florida. Alterations in peripheral myelin protein 22 (PMP22) expression are associated Continue reading Molecular alterations resulting from frameshift mutations in peripheral myelin protein 22: Implications for neuropathy severity

Neurological and Neuromuscular Disease as a Risk Factor for Respiratory Failure in Children Hospitalized With Influenza Infection

The Advisory Committee on Immunization Practices (ACIP) recommends annual influenza vaccination for children with certain chronic medical conditions to prevent serious complications of influenza infection. Little is known about the relative contribution of each of these chronic medical conditions to Continue reading Neurological and Neuromuscular Disease as a Risk Factor for Respiratory Failure in Children Hospitalized With Influenza Infection

Structure and Stability of Internodal Myelin in Mouse Models of Hereditary Neuropathy

Journal of Neuropathology & Experimental Neurology. 64(11):976-990, November 2005. Avila, Robin L BS; Inouye, Hideyo PhD; Baek, Rena C BS; Yin, Xinghua MD; Trapp, Bruce D PhD; Feltri, M Laura MD; Wrabetz, Lawrence MD; Kirschner, Daniel A PhD Peripheral neuropathies Continue reading Structure and Stability of Internodal Myelin in Mouse Models of Hereditary Neuropathy

Curcumin Treatment Abrogates Endoplasmic Reticulum Retention and Aggregation-Induced Apoptosis Associated with Neuropathy-Causing Myelin Protein Zero-Truncating Mutants

Mehrdad Khajavi, Ken Inoue, Wojciech Wiszniewski, Tomoko Ohyama, G. Jackson Snipes, and James R. Lupski The American Journal of Human Genetics, volume 77 (2005), pages 841–850 Mutations in MPZ, the gene encoding myelin protein zero (MPZ), the major protein constituent Continue reading Curcumin Treatment Abrogates Endoplasmic Reticulum Retention and Aggregation-Induced Apoptosis Associated with Neuropathy-Causing Myelin Protein Zero-Truncating Mutants

Respiratory function assessment and intervention in neuromuscular disorders

Current Opinion in Neurology. 18(5):543-547, October 2005. Mellies, Uwe; Dohna-Schwake, Christian; Voit, Thomas Abstract: Purpose of review: Published research on neuromuscular respiratory failure has increased rapidly over the past decade. Progress in the management of respiratory complications and preventive care Continue reading Respiratory function assessment and intervention in neuromuscular disorders

Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene

We describe a father and daughter with Dejerine-Sottas syndrome and bilateral vestibular loss due to an L71P missense mutation in the peripheral myelin protein 22 (PMP22). The combination of vestibular loss and peripheral neuropathy led to profound imbalance at a Continue reading Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene