Unusual electrophysiological findings in X‐linked dominant Charcot‐Marie‐Tooth disease
暂无分享,去创建一个
[1] N. Lévy,et al. Demyelinating X‐linked Charcot–Marie–Tooth disease: Unusual electrophysiological findings , 1999, Muscle & nerve.
[2] Y. Agid,et al. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations , 1998, Neurology.
[3] M. Reilly. Genetically determined neuropathies , 1997, Journal of Neurology.
[4] K. Fischbeck,et al. Altered Trafficking of Mutant Connexin32 , 1997, The Journal of Neuroscience.
[5] M. Bennett,et al. Changes in Permeability Caused by Connexin 32 Mutations Underlie X-Linked Charcot-Marie-Tooth Disease , 1997, Neuron.
[6] S. Scherer,et al. Heterozygous P0 knockout mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy (CIDP). , 1997, Journal of neuropathology and experimental neurology.
[7] K. Willecke,et al. Structural Abnormalities and Deficient Maintenance of Peripheral Nerve Myelin in Mice Lacking the Gap Junction Protein Connexin 32 , 1997, The Journal of Neuroscience.
[8] J. England,et al. Electrophysiological studies in the different genotypes of Charcot‐Marie-Tooth disease , 1996, Current opinion in neurology.
[9] H. Yamasaki,et al. Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects. , 1996, Molecular biology of the cell.
[10] D. Spray,et al. X-linked dominant Charcot—Marie—Tooth disease and other potential gap-junction diseases of the nervous system , 1995, Trends in Neurosciences.
[11] K. Fischbeck,et al. Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease , 1994, Neuron.
[12] J. England,et al. Distal accentuation of conduction slowing in polyneuropathy associated with antibodies to myelin-associated glycoprotein and sulphated glucuronyl paragloboside. , 1994, Brain : a journal of neurology.
[13] K. Fischbeck,et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. , 1993, Science.
[14] J. Nash,et al. Intermediate nerve conduction velocities define X‐linked Charcot‐Marie‐Tooth neuropathy families , 1993, Neurology.
[15] J. Lupski,et al. Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP. , 1993, JAMA.
[16] V. Ionasescu,et al. Screening of dominantly inherited Charcot–Marie–Tooth neuropathies , 1993, Muscle & nerve.
[17] Aravinda Chakravarti,et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A , 1991, Cell.
[18] M. Pericak-Vance,et al. Hereditary motor and sensory neuropathy, X‐linked , 1987, Neurology.
[19] A. Sumner,et al. The electrodiagnostic distinctions between chronic familial and acquired demyelinative neuropathies , 1982, Neurology.
[20] P. Dyck,et al. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. , 1968, Archives of neurology.