Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation
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[1] N. Souayah,et al. Asymmetric Phenotype Associated With Rare Myelin Protein Zero Mutation , 2010, Journal of clinical neuromuscular disease.
[2] J. Epplen,et al. Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF , 2009, Neuromuscular Disorders.
[3] O. Combarros,et al. Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family , 2009, Journal of Neurology.
[4] N. Wood,et al. GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment , 2009, Journal of Neurology, Neurosurgery, and Psychiatry.
[5] H. Houlden,et al. Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathy , 2009, Eye.
[6] P. Guiheneuc,et al. A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression , 2008, Muscle & nerve.
[7] F. Bremner,et al. Bilateral tonic pupils: Holmes–Adie syndrome or generalised neuropathy? , 2007, British Journal of Ophthalmology.
[8] M. Reilly. Sorting out the inherited neuropathies. , 2007, Practical neurology.
[9] F. Bremner,et al. Pupil findings in a consecutive series of 150 patients with generalised autonomic neuropathy , 2006, Journal of Neurology, Neurosurgery & Psychiatry.
[10] Jun Yu Li,et al. Reliability and validity of the CMT neuropathy score as a measure of disability , 2005, Neurology.
[11] Richard A Lewis,et al. Phenotypic clustering in MPZ mutations. , 2004, Brain : a journal of neurology.
[12] K. Nakashima,et al. Axonal and demyelinating forms of the MPZ Thr124Met mutation , 2003, Acta neurologica Scandinavica.
[13] P. Vermersch,et al. Autonomic and respiratory dysfunction in Charcot–Marie–Tooth disease due to Thr124Met mutation in the myelin protein zero gene , 2003, Clinical Neurophysiology.
[14] G. Kraft,et al. Charcot–Marie–Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes , 2002, Neuromuscular Disorders.
[15] F. Baas,et al. Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot–Marie–Tooth disease associated with light-near dissociation , 2002, Neuromuscular Disorders.
[16] S. Sisodiya,et al. Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation , 2000, Journal of neurology, neurosurgery, and psychiatry.
[17] R. Lewis,et al. Electrophysiologic Features of Inherited Demyelinating Neuropathies: A Reappraisal , 1999, Annals of the New York Academy of Sciences.
[18] P. Latour,et al. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene , 1999, Journal of neurology, neurosurgery, and psychiatry.
[19] C. van Broeckhoven,et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. , 1999, Brain : a journal of neurology.
[20] C. Broeckhoven,et al. 3rd Workshop of the European CMT consortium: 54th ENMC International Workshop on Genotype/Phenotype Correlations in Charcot-Marie-Tooth Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies28–30 November 1997, Naarden, The Netherlands , 1998, Neuromuscular Disorders.
[21] R. Vierkant,et al. Comparison of Cholinergic Supersensitivity in Third Nerve Palsy and Adie's Syndrome , 1998, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[22] 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.
[23] C. Broeckhoven,et al. Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene , 1994, Human Genetics.
[24] M. Rosenberg. Miotic Adie's pupils. , 1989, Journal of clinical neuro-ophthalmology.
[25] G. Sobue,et al. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. , 2003, Brain : a journal of neurology.
[26] C. Broeckhoven,et al. Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family , 2000, Pflügers Archiv.
[27] M. Upadhyaya,et al. Mutation analysis in charcot‐marie‐tooth disease type 1 (CMT1) , 1998, Human mutation.