Clin Genet 2010,Jul,01;78(1):81-7; (PMID: 20456450)
Brozková, D
; Mazanec, R
; ... ; Seeman, P
; [...]Phenotypes associated with each of the new mutations include severe hereditary motor and sensory neuropathy type III (HMSN III), and mild phenotype CMT1B presented mostly with only decreased or absent reflexes, foot[...]
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J Clin Neuromuscul Dis 2010,Jun,01;11(4):187-90; (PMID: 20516806)
Simpson, Benjamin S
; Rajabally, Yusuf A; [...]pes cavus, and motor nerve conduction studies were consistent with Charcot-Marie-Tooth disease type 1. Genetic testing later showed the presence of a novel frameshift mutation within the transmembrane domain of the [...]
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Rinsho Shinkeigaku 2010,Jun,01;50(6):399-403; (PMID: 20593665)
Akimoto, Chizuru
; Morita, Mitsuya
; ... ; Nakano, Imaharu
; [...]CMTX1, the second most common type of inherited hereditary motor and sensory neuropathy (HMSN), is associated with mutations of the gene for the gap junction protein connexin 32 (Cx32). In this condition, central conduction velocity is known to be delayed, presumably because [...]BAEP test demonstrated prolonged central conduction time (-I wave 1.8 milliseconds, I-V wave 6.4 milliseconds). The BAEP findings prompted us to choose Cx32 gene to analyze first to find a novel mutation of two (A and T) base pairs [...]
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Xenotransplantation 2009,May,01;16(3):145-51; (PMID: 19566654)
Cheng, Kang
; Gupta, Sanjeev; [...]mice could be measured with quantitative real-time polymerase chain reactions for Charcot-Marie-Tooth disease, type 1 repeat element, sex-determining region Y, or short tandem repeats (STR) across human leukocyte antigen (HLA) regions, which are distinct from rodent genomes.[...]
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Arch Otolaryngol Head Neck Surg 2009,Jan,01;135(1):101-5; (PMID: 19153315)
Kuruvilla, George
; Perry, Shirley
; ... ; El-Hakim, Hamdy
; [...]. Two patients had Down syndrome, and 1 patient had Charcot-Marie-Tooth disease, type 1. Only 2 patients required tracheotomies, and 1 patient was treated temporarily with bilevel [...]
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J Rehabil Med 2009,Jan,01;41(1):32-4; (PMID: 19197566)
van Pomeren, Madlenka
; Selles, Ruud W
; ... ; Stam, Henk J
; [...]The objective of this study was to determine if this hypothesis could be verified in our population. DESIGN: Survey. SUBJECTS: Twenty-eight patients with Charcot-Marie-Tooth disease type I or II from a rehabilitation department of a university hospital in the Netherlands. METHODS: The strength of 3 intrinsic [...]
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Genetika 2008,Oct,01;44(10):1385-91; (PMID: 19062535)
Khidiianova, I M
; Bagautdinova, E G
; ... ; Khusnutdinova, E K
; [...]Hereditary motor and sensory neuropathy type 1X (HMSN 1X) is the second most frequent form of demyelinating polyneuropathies and is caused by mutations in the gene for connexin 32 protein ([...]
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Neurol Sci 2008,Sep,01;29 Suppl 2:S238-40; (PMID: 18690504)
Kalkman, Joke S
; Zwarts, Machiel J
; ... ; Bleijenberg, Gijs
; [...], little is known about different types of fatigue. Sixty-five FSHD, 79 adult-onset MD and 73 HMSN type I patients were studied. Experienced fatigue was assessed with the CIS-fatigue subscale. Physiological fatigue was measured during a 2-min sustained maximal voluntary contraction of the [...]
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J Neurol Neurosurg Psychiatry 2008,Jul,01;79(7):829-31; (PMID: 18559462)
Dziewas, R
; Waldmann, N
; ... ; Young, P
; [...]) has previously been described in a large family suffering from Charcot-Marie-Tooth disease type 1 (CMT1). In the present study, we used a case control design to establish whether this suggested link between [...]
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Cell Immunol 2008,May,01;253(1-2):11-5; (PMID: 18627903)
Leal, Alejandro
; Ichim, Thomas E
; ... ; Riordan, Neil H
; [...]) and Crohn's Disease, for which Phase III clinical trials are currently in progress. Here, we review the immunological properties of MSC and make a case for their use in treatment of [...]Here, we review the immunological properties of MSC and make a case for their use in treatment of Charcot-Marie-Tooth disease type 1 (CMT1), a group of inherited peripheral neuropathies. CMT1 is characterized by demyelination[...]
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