|1.||Burns, Joshua: 6 articles (12/2011 - 07/2006)|
|2.||Lupski, James R: 5 articles (03/2014 - 01/2004)|
|3.||Lupski, J R: 5 articles (05/2010 - 01/2000)|
|4.||Pareyson, Davide: 4 articles (10/2015 - 01/2013)|
|5.||Ryan, Monique M: 4 articles (12/2011 - 12/2008)|
|6.||Li, Jun: 3 articles (03/2015 - 12/2009)|
|7.||de Visser, Marianne: 3 articles (01/2014 - 02/2008)|
|8.||Nollet, Frans: 3 articles (04/2013 - 02/2008)|
|9.||Reilly, M M: 3 articles (02/2012 - 11/2011)|
|10.||Morrow, J M: 3 articles (02/2012 - 11/2011)|
05/01/2010 - "Molecular and clinical studies of copy number variants involving chromosome 17 began with locus-specific studies of Charcot-Marie-Tooth disease type 1A (CMT1A, OMIM #118220) and hereditary neuropathy with liability to pressure palsies (HNPP, OMIM #162500), which laid the foundation for the paradigm of duplication/deletion and gene-dosage for our understanding of genomic disorders. "
01/01/2015 - "Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) represent the most common heritable neuromuscular disorders. "
01/01/2014 - "PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing both phenotypes. "
01/01/2014 - "PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies."
11/15/2012 - "Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients."
08/15/2014 - "Usefulness of the modified F-ratio for assessments of proximal conduction in chronic inflammatory demyelinating polyneuropathy superimposed on Charcot Marie-Tooth disease type 1A."
10/01/2010 - "Coexistence of two chronic neuropathies in a young child: Charcot-Marie-Tooth disease type 1A and chronic inflammatory demyelinating polyneuropathy."
04/01/2006 - "The patients comprised 5 with Charcot-Marie-Tooth disease type 1A (CMT1A), 8 with CMT type 2 (CMT2) and 14 with Diabetes polyneuropathy (Diabetics). "
01/01/2004 - "Charcot-Marie-Tooth disease type 1A (CMT1A) is commonly considered a prototype of a hereditary demyelinating polyneuropathy. "
07/01/1997 - "Charcot-Marie-Tooth disease type 1A (CMT 1A) is an autosomal dominant demyelinating polyneuropathy associated with a 1.5-Mb duplication of the p11.2-p12 region of chromosome 17, including the peripheral myelin protein-22 (PMP-22) gene (CMT 1A duplication). "
|3.||Muscular Atrophy (Muscle Atrophy)
02/01/2006 - "Studies comparing clinical and MRI features of foot and leg muscle atrophy in Charcot-Marie-Tooth disease type 1A (CMT-1A) duplication are lacking. "
08/01/2000 - "The purpose of the study is to describe the electrophysiologic abnormalities accounting for the appearance and progression of extensor digitorum brevis (EDB) muscle atrophy in Charcot-Marie-Tooth-disease type 1A (CMT-1A) children. "
10/01/2006 - "To describe a large pedigree with Charcot-Marie-Tooth disease type 1A (CMT1A) duplication in which severe pelvic and thigh musculature weakness occurred in two patients, detected by analysing the leg muscle atrophy pattern on magnetic resonance imaging (MRI). "
08/01/1999 - "A partial duplication of chromosome 17 is associated with Charcot-Marie-Tooth disease type 1A (CMT1A), a demyelinating peripheral neuropathy that causes progressive distal muscle atrophy and sensory impairment. "
|4.||Peripheral Nervous System Diseases (PNS Diseases)
11/01/1993 - "Molecular genetic studies have established that mutations in the gene encoding the 22-kDa peripheral myelin protein (PMP-22) are responsible for hereditary peripheral neuropathies in the trembler mouse and in a subset of humans with Charcot-Marie-Tooth disease, type 1a. "
11/21/2014 - "Copy number variation resulting in excess PMP22 protein causes the peripheral neuropathy Charcot-Marie-Tooth disease, type 1A. "
03/06/2014 - "We investigated the genomic disorder Charcot-Marie-Tooth disease type 1A (CMT1A), a dominant peripheral neuropathy caused by a 1.4 Mb recurrent duplication occurring by nonallelic homologous recombination. "
01/01/2014 - "Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited sensory and motor peripheral neuropathy. "
01/01/2013 - "Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary demyelinating peripheral neuropathy caused by the duplication of the PMP22 gene. "
|5.||Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP)
12/01/2009 - "We have utilized glabrous skin biopsies, a minimally invasive procedure, to evaluate these issues systematically in patients with Charcot-Marie-Tooth disease type 1A (n = 32), chronic inflammatory demyelinating polyradiculoneuropathy (n = 4) and healthy controls (n = 12). "
11/15/1999 - "This work examines those findings in a consecutive series of 16 patients with CIDP, with blinded comparison to MRI in 13 disease controls, including five patients with Charcot-Marie-Tooth disease type 1A. "
09/01/2013 - "Hypertrophic neuropathy is usually intractable, and chronic inflammatory demyelinating polyneuropathy (CIDP) and Charcot-Marie-Tooth disease Type 1A (CMT1A) are the representative disorders. "
01/01/2012 - "[Autopsy case of a patient with Charcot-Marie-Tooth disease type 1A and suspected chronic inflammatory demyelinating polyradiculoneuropathy, which was later diagnosed as amyotrophic lateral sclerosis]."
01/01/2012 - "Ten patients with Charcot-Marie-Tooth disease type 1A (CMT1A) and nine patients with chronic inflammatory demyelinating polyneuropathy (CIDP) were compared with 10 healthy subjects. "
|1.||Ascorbic Acid (Vitamin C)
|2.||Myelin-Associated Glycoprotein (S-MAG)
|3.||Cytidine Diphosphate (CDP)
|4.||Botulinum Toxins (Botulinum Toxin)
|9.||hexacyanoferrate II (ferrocyanide)
|10.||DNA (Deoxyribonucleic Acid)