• Gastrointestinal involvement in neurologic disorders: Stiff man and Charcot Marie Tooth syndromes": Soykan I.; McCallum R.W.; : AM. J. MED. SCI. 1997 313/1 (70-73)

Genetics of CMT

• "Two novel mutations in the MPZ gene coding region in charcot-marie-tooth type 1 patients of turkish origin: S54P,"Bissar-Tadmouri N, et al. Hum Mutat (Online). 1999 Nov;14(5):449.
• "Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP." Lopes J, et al. Hum Mol Genet. 1999 Nov;8(12):2285-2292.
• "Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1. "Takashima H, et al. Neuromuscul Disord. 1999 Oct;9(6-7):368-71.
• "A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease." Bellone E, et al. Hum Mutat (Online). 1999 Oct;14(4):353-4
• "Localization of mariner DNA transposons in the human genome by PRINS."Reiter LT, et al. Genome Res. 1999 Sep;9(9):839-43.
• "Expression of myelin proteins in the adult heterozygous Trembler mouse." Vallat JM, et al. Acta Neuropathol (Berl). 1999 Sep;98(3):281-7.
• "Multiple connexin expression in peripheral nerve, Schwann cells, and Schwannoma cells. "Mambetisaeva ET, et al. J Neurosci Res. 1999 Jul 15;57(2):166-75.
• "Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. " Warner LE, et al. Hum Mol Genet. 1999 Jul;8(7):1245-51.
• "Technical pitfalls encountered in PCR quantification using microsatellites. "Qu Y, et al. Genet Test. 1997-98;1(3):213-5.
• "Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype." Timmerman V, et al. Neurology. 1999 Jun 10;52(9):1827-32.
• "Charcot-Marie-Tooth disease type 1A duplication by PCR analysis. "Tachi N, et al. Pediatr Neurol. 1999 May;20(5):360-3.
• "Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies" Nelis E.et al; HUM. MUTAT. 1999 13/1 (11-28)
• "The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype",De Jonghe P.et al;BRAIN 1999 122/2 (281-290)
• "Axonal phenotype of Charcot Marie Tooth disease associated with a mutation in the myelin protein zero gene", Chapon F, et al.;J Neurol Neurosurg Psychiatry. 1999 Jun;66(6):779-782
• "Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.", Gabreels-Festen A, et al.; J Neurol Neurosurg Psychiatry. 1999 May;66(5):569-74
• "Charcot Marie Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity", Lupski JR.; Pediatr Res. 1999 Feb;45(2):159-65
• "Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15" Sambuughin N, et al;; J Neurol Sci. 1998 Nov 26;161(1):23-8. 
• "Lethal neonatal autosomal recessive axonal sensorimotor polyneuropathy." Vedanarayanan VV, et al; Muscle Nerve. 1998 Nov;21(11):1473-7. 
• "Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation." Lenssen PP, et al; Brain. 1998 Aug;121 ( Pt 8):1451-8. 
• "Pathogenesis of Charcot-Marie-Tooth 1A (CMT1A) neuropathy" Hanemann CO, et al ; Trends Neurosci. 1998 Jul;21(7):282-6. Review. 
• "Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP. E. Nelis,et.al; J Med Genet. 1998 Jul;35(7):590-3. 
• "Advances in the genetics of peripheral neuropathy in childhood" ; Ouvrier RA, Arch Pediatr. 1998 May;5(5):477-9. 
• "Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene" Marrosu MG, et al :Neurology. 1998 May;50(5):1397-401. 
• "Genetic aspects of Charcot-Marie-Tooth disease." Bell,C.,et.al.; Arch Dis Child. 1998 Apr;78(4):296-300. Review
• "Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths." Gambardella A, Neurology 1998 Mar;50(3):799-801
• "Molecular basis of neuromuscular diseases." Chance PF, et al; Phys Med Rehabil Clin N Am. 1998 Feb;9(1):49-81, vi
• "Charcot-Marie-Tooth disease: lessons in genetic mechanisms"; Lupski JR; : Mol Med 1998 Jan;4(1):3-11
• "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. 
• "Roussy-Levy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2." Auer-Grumbach M, et al ; Neurol Sci. 1998 Jan 21;154(1):72-5.