Hearing Loss and CMT

• "A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. " Kovach MJ, et al. Am J Hum Genet. 1999 Jun;64(6):1580-93.
• "Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred." Butinar D, et al. Ann Neurol. 1999 Jul;46(1):36-44.
• "A unique point mutation in the PMP22 gene is associated with charcot marie tooth disease and deafness.", Kovach MJ, et al; Am J Hum Genet. 1999 Jun;64(6):1580-93.
• "Sensorineural deafness in X linked Charcot Marie Tooth disease with connexin 32 mutation (R142Q)", Stojkovic T, et al; Neurology. 1999 Mar 23;52(5):1010-4
• "Hereditary motor and sensory neuropathy type 1A associated with sensorineural deafness" Stone J, et al; J Neurol Neurosurg Psychiatry. 1998 Sep;65(3):403.
• "A second family with hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibres, detected in the same geographic area as the first family" Santoro L, et al; J Neurol. 1998 Apr;245(4):240-4
• "Hereditary motor and sensory neuropathy with deafness, mental retardation, and absence of sensory large myelinated fibers: confirmation of a new entity." Sabatelli M, et al ; Am J Med Genet. 1998 Jan 23;75(3):309-13. 
• "Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers"; Mancardi GL, et al; J Neurol Sci. 1992 Jul;110(1-2):121-30. 

Hip Dysplasia and CMT
 

• "Developmental hip dysplasia in hereditary motor and sensory neuropathy type 1" Van Erve RH, et al.; J Pediatr Orthop. 1999 Jan-Feb;19(1):92-6.
• "Hip dysplasia in hereditary motor and sensory neuropathies."; Pailthorpe CA, et al ; J Bone Joint Surg [Br]. 1992 Jul;74(4):538-40. 

Immune System Defects in CMT
 

• "Activated T-cell in Charcot Marie Tooth disease :evidence for immunologic heterogeneity" ,L.L.Williams et al., Journal of Neuroimmunology,16(1987)317-330
• "Altered Imunoregulation in Charcot-Marie-Tooth Diseae and its possible role in peripheral demyleination". Charcot Marie Tooth Disorders:Pathophysiology, Molecular Genetics and Therapy, pp231-239,1990 Alan R Liss,Inc 
• "Detection of Cytomegalovirus Genomes in Human Skin Fibroblasts by DNA, Hybridization," J.Gen.Virol., 1980,51,435-438 (printed in Great Britain)
• "Expression of Schwann cell and peripheral T-cell activation epitopes in hereditary motor sensory neuropathy" L.L.Williams et all Journal of Immunology 36(1992)147-155
• "HLA in Charcot Marie Tooth Disease" L.L.Williams Annals of Neurology, vol 8 #4, Oct 1980 p452

Inflammatory Neuropathies in CMT

• "Acute inflammatory neuropathy in Charcot Marie Tooth disease",Malandrini A, et al; Neurology 1999 Mar 10;52(4):859-61

Kidney & Urinary Tract Problems in CMT
 

• "Fibrillary glomerulonephritis and Charcot-Marie-Tooth disease.", Nadal MA, et al; Am J Kidney Dis. 1998 Nov;32(5):E3

Metabolism Defects in CMT
 

• "Dietary Essential Fatty Acids, Vitamin E, and charcot marie tooth disease", L.L.Williams et.al.,Neurology, Vol 36, #9, pp 1200-12-5, Sept 1986
• "Essential Fatty Acid Dietary Addtion in Hereditary Neuropathy". L.L. Williams et.al., Prog.Lipid Res., Vol 25, pp 607-610, 1986 printed in Great Britain
• "Pyruvate Oxidation in Charcot Marie Tooth Disease", L.L.Williams, Neurology, Vol 29, #11, pp1492-1498, Nov 1979