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Comparison of gait patterns and functional measures between Charcot-Marie-Tooth disease type I and II in children to young adults.
Pogemiller K, Garibay E, Pierz K, Acsadi G, Õunpuu S. Pogemiller K, et al. Gait Posture. 2020 Mar;77:236-242. doi: 10.1016/j.gaitpost.2020.01.027. Epub 2020 Feb 1. Gait Posture. 2020. PMID: 32062403
CMT1 was more likely to demonstrate a dorsiflexion moment in loading response than CMT2. There was a consistent trend of a higher score and therefore greater disease severity for CMT2 based on CMTPedS. ...
CMT1 was more likely to demonstrate a dorsiflexion moment in loading response than CMT2. There was a consistent trend of a higher score …
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
Mostacciuolo ML, Righetti E, Zortea M, Bosello V, Schiavon F, Vallo L, Merlini L, Siciliano G, Fabrizi GM, Rizzuto N, Milani M, Baratta S, Taroni F. Mostacciuolo ML, et al. Hum Mutat. 2001;18(1):32-41. doi: 10.1002/humu.1147. Hum Mutat. 2001. PMID: 11438991
Among 170 informative unrelated patients, the overall duplication frequency was 57.6%. A difference could be observed between the duplication frequency in familial cases (71.6%) and that observed in non-familial cases (36.8%). ...
Among 170 informative unrelated patients, the overall duplication frequency was 57.6%. A difference could be observed between the dup …
Disability and quality of life in Charcot-Marie-Tooth disease type 1.
Pfeiffer G, Wicklein EM, Ratusinski T, Schmitt L, Kunze K. Pfeiffer G, et al. J Neurol Neurosurg Psychiatry. 2001 Apr;70(4):548-50. doi: 10.1136/jnnp.70.4.548. J Neurol Neurosurg Psychiatry. 2001. PMID: 11254787 Free PMC article.
OBJECTIVES: Charcot-Marie-Tooth disease type I (CMT1) is a hereditary sensorimotor neuropathy causing variable degrees of handicap. ...METHODS: Disability and ambulation of 50 patients with CMT1 were scored by the Hauser ambulation index …
OBJECTIVES: Charcot-Marie-Tooth disease type I (CMT1) is a hereditary sensorimotor neuropathy caus …
Molecular and pathological studies in Charcot-Marie-Tooth disease 1A.
Kosuka N, Tachi N, Ohya K, Chiba S. Kosuka N, et al. Brain Dev. 1997 Nov;19(7):464-8. doi: 10.1016/s0387-7604(97)00062-4. Brain Dev. 1997. PMID: 9408592
We analyzed a 1.5-Mb duplication of the p11.2-12 region of chromosome 17, including the PMP-22 gene (CMT1A duplication), seven families with Charcot-Marie-Tooth disease type I (CMT I) and six sporadic patients with suspected CMT I by Sout …
We analyzed a 1.5-Mb duplication of the p11.2-12 region of chromosome 17, including the PMP-22 gene (CMT1A duplication), seven families with …
Charcot-Marie-Tooth disease type I diagnosed in a 5-year-old boy after vincristine neurotoxicity, resulting in maternal diagnosis.
Olek MJ, Bordeaux B, Leshner RT. Olek MJ, et al. J Am Osteopath Assoc. 1999 Mar;99(3):165-7. doi: 10.7556/jaoa.1999.99.3.165. J Am Osteopath Assoc. 1999. PMID: 10217912 Free article.
Charcot-Marie-Tooth disease type 1 was diagnosed in the patient and, subsequently, in his mother only after vincristine toxicity was observed....
Charcot-Marie-Tooth disease type 1 was diagnosed in the patient and, subsequently, in his mother only after vincristine toxicity was obse …