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Journal Articles Written About
Charcot-Marie-Tooth Disease




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Please note that ALL of the articles listed on these pages are old. The reason I have left them here as a reference is that some of the old research done a number of years ago, has not been repeated or updated. Some people may find these articles have some value in their search for information about
Charcot Marie Tooth Disease.


The Full Text of the Following Articles Can Be Found At Your Local Medical Library, Abstracts of Some of the Articles May Be Found By Searching Medline for "Charcot Marie Tooth" or "Hereditary Motor Sensory Neuropathy"

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General Overviews of CMT


Anaesthesia and the CMT Patient


Autosomal Recessive CMT
 
Bone Density In CMT
  • "Pathologic fracture of the tibia associated with Charcot Marie Tooth disease", Quintart C, et al; .Acta Orthop Belg. 1999 Mar;65(1):105-8.

Cardiovascular Problems In CMT
  • "Cardiac involvement in neuromuscular diseases": Posada Rodriguez IJ,et.al., : Rev Esp Cardiol 1997 Dec;50(12):882-901
  • "Pattern VEP in a case of Charcot-Marie-Tooth syndrome with renin-dependant systemic hypertension" Yamasaki A.,et.al; : Japanese Journal of Clinical Ophthalmology 1997 51/3 (325-328)
  • "Cardiovascular Aberrations in Patients With Neuromuscular Diseases", Anton Zupan, Acta Cardiomiologica; 1995 7/2 (107-111)
  • "On the occurrence of BBB syndrome and hereditary sensory motor neuropathy in the same family" Baldellou A, et al; Genet Couns. 1991;2(4):255-7. 

Central Nervous System Involvement in CMT
  • "Central motor conduction in hereditary motor and sensory neuropathy and hereditary spastic paraplegia. " Cruz Martinez A, et al. Electromyogr Clin Neurophysiol. 1999 Sep;39(6):331-5.
  • "Central nervous system involvement in a novel connexin 32 mutation affecting identical twins (3)", Marques W. Jr.;et al, J. Neurol. Neurosurg. Psychiatry 1999 66/6 (803-804)
  • "Compression of spinal cord and cauda equina in Charcot-Marie-Tooth disease type 1A", Butefisch C, et al; Neurology. 1999 Mar 10;52(4):890-1
  • "Central visual, acoustic, and motor pathway involvement in a Charcot Marie Tooth family with an Asn205Ser mutation in the connexin 32 gene", Bahr M, et al; J Neurol Neurosurg Psychiatry. 1999 Feb;66(2):202-6.
  • "A case of hereditary motor and sensory neuropathy with pyramidal tract sign, optic nerve atrophy and mental retardation",Adachi T, et al; Rinsho Shinkeigaku. 1998 Dec;38(12):1037-41.
  • "Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations." Panas M, et al; J Neurol Neurosurg Psychiatry. 1998 Dec;65(6):947-8
  • "Significance of facial and trigeminal nerve involvement in Charcot-Marie-Tooth disease type 1A: a case report" Ito H, et al; Muscle Nerve. 1998 Aug;21(8):1108-10. 
  • "Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): clinical and neuropathological features of a Japanese family" Sekijima Y, et al; J Neurol Sci. 1998 Jun 11;158(1):30-7. 
  • "Hypertrophied cauda equina presenting as intradural mass case report and review of literature." : Hahn M, et al ; Surg Neurol. 1998 May;49(5):514-8; discussion 518-9.
  • "Central motor pathway evaluation using magnetic coil stimulation in hereditary motor and sensory neuropathy type I (HMSN type I, Charcot-Marie-Tooth disease)." Sartucci F,et.al; Int J Neurosci 1997 Dec;92(3-4):145-159
  • "Peroneal muscular atrophy with pyramidal tract features (hereditary motor and sensory neuropathy type V): a clinical, neurophysiological, and pathological study of a large kindred", Frith, J.A. et al; J Neurology, Neurosurgery & Psychiatry 57:1343-1346:1994.
  • "Central motor conduction in a family with hereditary motor and sensory neuropathy with pyramidal signs (HMSN V)"; Schnider A., et al; J Neurol Neurosurg Psychiatry. 1991 Jun;54(6):511-5. 

Cold Stress in CMT
  • "Abnormal responses to cold stress in Charcot-Marie-Tooth I syndrome"; Williams LL, et al.; Arch Phys Med Rehabil. 1994 Jul;75(7):787-91. 

Diagnostic Tests in CMT
 
  • "Ultrasound of radial, ulnar, median, and sciatic nerves in healthy subjects and patients with hereditary motor and sensory neuropathies", Heinemeyer O.et al; Ultrasound Med. Biol. 1999 25/3 (481-485)
  • "Erythrocyte alkaline phosphatase in patients with myotonic muscle disorders." Goldemberg AL;et.al., : Invest Clin 1996 Dec; 37 (4): 247-53
  • "Diagnosis of monogenic diseases of the peripheral nervous system": Haupt A; Epplen JT; Dtsch Med Wochenschr 1996 Nov 22; 121 (47): 1469-72
  • "MRI of skeletal muscles in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths. EXPERIMENTAL TREATMENTS FOR CMT"; Bono F, et al; Eur Neurol. 1998;39(3):191-2. 



EMG Findings in CMT
 

  • "Demyelinating X-linked charcot-marie-tooth disease: unusual electrophysiological findings." Tabaraud F, et al. Muscle Nerve. 1999 Oct;22(10):1442-7.
  • "Peripheral late waves in patients with hereditary motor sensory neuropathy. "Christova LG, et al. Electromyogr Clin Neurophysiol. 1999 Sep;39(6):345-8.
  • "[Comparison of electrophysiological findings between CIDP and HMSN-1]. " Hasegawa O, et al. No To Shinkei. 1999 May;51(5):411-4. Japanese.
  • "Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion", Mouton P, et al; Neurology. 1999 Apr 22;52(7):1440-6
  • "Clinical and electrophysiological findings and follow-up in tarsal tunnel syndrome" Mondelli M, et al; Electroencephalogr Clin Neurophysiol. 1998 Oct;109(5):418-25. 
  • "Correlation between denervation activity and compound muscle action potential amplitude in hereditary motor and sensory neuropathy I and II."; Paraskevas GP, et al.; Electromyogr Clin Neurophysiol. 1998 Sep;38(6):343-7
  • "Surface EMG and myosonography in the detection of fasciculations: a comparative study.", Wenzel S, et al; J Neuroimaging. 1998 Jul;8(3):148-54.
  • "Electrophysiological findings in hereditary motor and sensory neuropathy type I and II--a conduction velocity study." Emeryk-Szajewska B., et al; Electromyogr Clin Neurophysiol. 1998 Mar;38(2):95-101. 
  • "Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice",Huxley C, et al;Hum Mol Genet 1998 Mar;7(3):449-458
  • "Hereditary sensorimotor neuropathy in electrophysiological studies", Emeryk-Szajewska B, et al.; Neurol Neurochir Pol. 1998 Mar-Apr;32(2):295-308.
  • "Electrodiagnosis in neuromuscular disease." ; Krivickas LS; Phys Med Rehabil Clin N Am. 1998 Feb;9(1):83-114, vi. Review.
  • "Charcot-Marie-Tooth disease: electromyography is still useful in diagnosis and classification": Birouk N., et al; Rev Neurol (Paris). 1997 Dec;153(12):727-36. 
  • "Electrophysiological studies in the different genotypes of Charcot-Marie-Tooth disease" England J.D.; Garcia C.A. CURR. OPIN. NEUROL. 1996 9/5 (338-342)

Experimental Treatments for CMT
 

  • "Charcot-Marie-Tooth disease type 1 and 2-an immunohistochemical study of muscle fibre cytoskeletal proteins and a marker for muscle fibre regeneration", Ericson U, et al; Eur J Neurol. 1998 Nov;5(6):545-551
  • "Growth hormone replacement in an adult with mild growth hormone deficiency and hereditary motor and sensory neuropathy: growth hormone restores independent mobility" Lissett CA, et al; Horm Res. 1998;50(4):232-6. 
  • "Induction of experimental autoimmune neuritis with peripheral myelin protein-22". Gabriel CM, et al; Brain. 1998 Oct;121 ( Pt 10):1895-902.

Eyesight and CMT
  • "Hereditary motor and sensory neuropathy with congenital glaucoma. Report on a family. " Arruda WO, et al. Arq Neuropsiquiatr. 1999 Jun;57(2A):190-4.
  • "Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy" Chalmers R.M.;et.al, J. Neurol. Neurosurg. Psychiatry 1997 62/4 (385-387)
  • "Retinal changes in familial peripheral sensory and motor neuropathy associated with anterior cervical hypertrichosis." Garty BZ, et al; Pediatr Ophthalmol Strabismus. 1997 Sep-Oct;34(5):309-12. 
  • "Hereditary motor and sensory neuropathy with spastic paraplegia and optic atrophy: report on a family." Dillmann U, et al; J Neurol. 1997 Sep;244(9) :562-5. 

Facial Nerve Involvement In CMT
 

  • "Facial nerve dysfunction in hereditary motor and sensory neuropathy type I and III. " Glocker FX, et al. Muscle Nerve. 1999 Sep;22(9):1201-8.

Fatigue and CMT
  • "Surface EMG of proximal leg muscles in neuromuscular patients and in healthy controls. Relations to force and fatigue."Lindeman E, et al. J Electromyogr Kinesiol. 1999 Oct;9(5):299-307

Gastrointestinal Problems in CMT
 
  • 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. 



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

Muscle and Nerve Biopsies in CMT
 
  • "PMP-22 gene duplications and deletions identified in archival, paraffin-embedded sural nerve biopsy specimens: correlation to structural changes.", Thiex R, et al.; Acta Neuropathol (Berl). 1998 Jul;96(1):13-21.
  • "Charcot-Marie-Tooth disease--muscle biopsy findings in relation to neurophysiology" Ericson U, et al; Neuromuscul Disord. 1998 May;8(3-4):175-81. 

Nerve Anatomy& Physiology in CMT
  • "Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22." Fabrizi GM, et al. Neurology. 1999 Sep 11;53(4):846-51.
  • "Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. " Inoue K, et al Ann Neurol. 1999 Sep;46(3):313-8.
  • "Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom. " King RH, et al. Neuropathol Appl Neurobiol. 1999 Aug;25(4):306-12.
  • "Axonal pathology in demyelinating diseases" Scherer S; Ann Neurol 1999 Jan; 45 (1): 6-7
  • "Sympathetic skin response differentiates hereditary sensory autonomic neuropathies III and IV",Hilz MJ, et al;Neurology. 1999 May 12;52(8):1652-7. 
  • "Analysis of sensory function in Charcot-Marie-Tooth disease.", Ericson U, et al; Acta Neurol Scand. 1999 May;99(5):291-6.
  • "Charcot-Marie-Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1).,Sander S, Nicholson GA, et al;Muscle Nerve 1998 Feb;21(2):217-225 
  • "Preliminary study of large and small peripheral nerve fibers inCharcot Marie Tooth disease, type I.",Hanson P, Deltombe T;Am J Phys Med Rehabil 1998 Jan;77(1):45-48
  • "Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1.",Watson, D.F., et al;Neurology 44:2383-2387:1994.

Other Diseases and CMT
  • "Vincristine treatment revealing asymptomatic hereditary motor sensory neuropathy type 1A. " Mercuri E, et al. Arch Dis Child. 1999 Nov;81(5):442-3.
  • "Autonomic function in patients with hereditary motor and sensory neuropathy type I and Lambert-Eaton myasthenic syndrome. " Kalmijn S, et al. Electromyogr Clin Neurophysiol. 1999 Sep;39(6):349-53.
  • "Cognitive, psychosocial, and educational issues in neuromuscular disease." Sigford BJ; Lanham RA Jr;: Phys Med Rehabil Clin N Am 1998 Feb; 9 (1): 249-70
  • "Charcot MarieTooth disease type 2 with restless legs syndrome", Gemignani F, et al; Neurology. 1999 Mar 23;52(5):1064-6
  • "Triple association of Crohn disease, multiple sclerosis, Charcot Marie Tooth disease. Case report", Gil H, et al; Rev Med Interne. 1999 Mar;20(3):288-9
  • "Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies.", Naef R, et al; Neurobiol Dis. 1999 Feb;6(1):1-14

Pain in CMT
 
  • "Neuropathic Pain in Charcot-Marie-Tooth Disease" G.T. Carter, et al; Archives of Physical Medicine and Rehabilitation, Dec. 1998, V.79 pp1560-1564
  • "Neuropathic spinal arthropathy in Charcot-Marie-Tooth disease. A case report. "Anand N, et al; J Bone Joint Surg Am. 1997 Aug;79(8):1235-9

Pregnancy and CMT
  • "Pregnancy after preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A.", Mol Hum Reprod 1998 Oct; 4 (10): 978-84 
  • "Charcot-Marie-Tooth disease and pregnancy: report of a case." Bellina JH, et al. ; J La State Med Soc. 1973 Nov;125(11):393-5.
  • "Effect of pregnancy on the course of Charcot-Marie-Tooth neural amyotrophy". Badalian LO, et al; Akush Ginekol (Mosk). 1986 Jun;(6):70-1.
  • "Pregnancy complicated by Charcot-Marie-Tooth disease, requiring intermittent ventilation. "Byrne DL, et al.; Br J Obstet Gynaecol. 1992 Jan;99(1):79-80.

Prenatal Diagnosis of CMT
  • "Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization.",Kashork CD, et al.;Prenat Diagn. 1999 May;19(5):446-9
  • "Prenatal diagnosis of Charcot-Marie-Tooth disease" Lebo RV; Prenat Diagn 1998 Feb;18(2):169-172
Rehabilitation in CMT
  • "Daytime somnolence in myotonic dystrophy. "Phillips MF, et al. J Neurol. 1999 Apr;246(4):275-82.
  • "Improvement of muscle function in Charcot-Marie-Tooth disease by transcutaneous electric nerve stimulation"; Hassel B; Muscle Nerve 1998 Feb;21(2):267-268
  • "Quadriceps strength and timed motor performances in myotonic dystrophy, Charcot-Marie-Tooth disease, and healthy subjects": .Lindeman E,et al; Clin Rehabil. 1998 Apr;12(2):127-35. 
  • "Type I Charcot-Marie-Tooth syndrome. Disability and management".; Wicklein EM, et al.; Nervenarzt. 1997 Apr;68(4):358-62.

Respiratory Problems in CMT
  • "Respiratory insufficiency in Charcot-Marie-Tooth disease. ";Hirsch NP; Anaesthesia. 1998 Oct;53(10):1034.
  • "Diaphragmatic weakness in hereditary motor and sensory neuropathy"; Green MM, et al; J Neurol Neurosurg Psychiatry. 1991 Aug;54(8):759. 
  • "Phrenic Nerve Involvement in Charcot-Marie-Tooth Disease. A Pathologic Documentation" D. Gilchrist, et al; Chest; 1989 ; 96; pp1197-1199
  • "Respiratory Muscle Dysfunction in Hereditary Motor Sensory Neuropathy, Type 1 ; P.Eichacker, A. et al,; Arch. Internal Medicine 1988; 18;pp1739-1740 
  • "Charcot-Marie-Tooth disease and respiratory failure."; Dyer EL, et al.; Chest. 1988 Jan;93(1):221.
  • "Respiratory Muscle Weakness in Charcot Marie Tooth Disease" ,C.M.Laroche, et al; Thorax 1988; 43; pp468-479

Surgery for CMT
 
  • "Triple arthrodesis: twenty-five and forty-four-year average follow-up of the same patients."Saltzman CL, et al. J Bone Joint Surg Am. 1999 Oct;81(10):1391-402.
  • "Restoring hand function in patients with severe polyneuropathy: the role of electromyography before tendon transfer surgery." Mackin GA, et al. J Hand Surg [Am]. 1999 Jul;24(4):732-42
  • "The Charcot joint " {when associated with Charcot Marie Tooth Disease} Zwipp H, et al. Orthopade. 1999 Jun;28(6):550-8. German
  • "The periacetabular osteotomy. Minimum 2 year followup in more than 100 hips. "Trumble SJ, et al. Clin Orthop. 1999 Jun;(363):54-63.
  • "Orthopedic management of neuromuscular disorders in children." Birch, JG; Semin Pediatr Neurol. 1998 Jun;5(2):78-91.
  • "Surgical arthrodesis of the neuropathic foot. A salvage procedure",Bono JV. Roger DJ. Jacobs RL;Clinical Orthopaedics & Related Research. (296):14-20, 1993 Nov
  • "Long-term results of triple arthrodesis in Charcot-Marie-Tooth disease.",Wetmore-RS; Drennan-JC; J-Bone-Joint-Surg-Am. 1989 Mar; 71(3): 417-22
  • "Plantar release in the correction of deformities of the foot in childhood",Sherman-FC; Westin-GW;J-Bone-Joint-Surg-Am. 1981 Dec; 63(9): 1382-9 

Type I CMT (Demyelinating)
 
  • "Atypical phenotype of charcot-marie-tooth disease type 1A."Murakami T, et al. Muscle Nerve. 1999 Nov;22(11):1593-6.
  • "[A sporadic case of Charcot-Marie-Tooth disease type 1 A associated with a duplication in chromosome 17 p11.2-p12]." Inoue M, et al. No To Hattatsu. 1999 Sep;31(5):452-7. Japanese.
  • "Clinical and electrophysiological study in French-Canadian population with Charcot-Marie-tooth disease type 1A associated with 17p11.2 duplication."Dupre N, et al. Can J Neurol Sci. 1999 Aug;26(3):196-200.
  • "[A family of hereditary motor and sensory neuropathy type 1B showing a marked difference of neurological disability score among affected family members]. "Ohnishi A, et al. Sangyo Ika Daigaku Zasshi. 1999 Jun 1;21(2):149-56. Japanese.
  • "Charcot MarieTooth disease type I diagnosed in a 5-year-old boy after vincristine neurotoxicity, resulting in maternal diagnosis", Olek MJ, et al; J Am Osteopath Assoc. 1999 Mar;99(3):165-7.
  • "Charcot-Marie-Tooth disease type 1A presenting as calf hypertrophy and muscle cramps".Krampitz DE.,et al; Neurology. 1998 Nov;51(5):1508-9. 
  • "Pathogenesis of Charcot-Marie-Tooth 1A (CMT1A) neuropathy.", Hanemann CO, et al; Trends Neurosci. 1998 Jul;21(7):282-6. Review.
  • "Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study." .; Garcia A., et.al; Neurology. 1998 Apr;50(4):1061-7

Type II CMT (Axonal)
 
  • "A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3. " Bouhouche A, et al. Am J Hum Genet. 1999 Sep;65(3):722-7.
  • "[A case of hereditary sensory autonomic neuropathy type II with late onset]. " Shimoya K, et al. Rinsho Shinkeigaku. 1999 May;39(5):551-4. Japanese.
  • "Charcot MarieTooth disease type 2 and P0 gene mutations", Pareyson D, et al; Neurology. 1999 Mar 23;52(5):1110-1"
  • "Autosomal recessive type II hereditary motor and sensory neuropathy with acrodystrophy", Thomas, P.K.;J Neurol. 1999 Feb;246(2):107-12
  • "Familial spastic paraplegia, axonal sensory-motor polyneuropathy and bulbar amyotrophy with facial dysmorphia: New cases of Troyer-like syndrome", Bertini E.et al; Eur. J. Paediatric Neurol. 1998 2/5 (245-254)

Vocal Cord Problems and CMT
 
  • "Varying occurrence of vocal cord paralysis in a family with autosomal dominant hereditary motor and sensory neuropathy. "Donaghy M, et al J Neurol. 1999 Jul;246(7):552-5.
  • "Laryngeal electromyographic findings in Charcot-Marie-Tooth disease type II."Dray TG, et al. Arch Neurol. 1999 Jul;56(7):863-5.
  • "Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis.", Dyck,P.J.et al; Ann Neurol 35:608-615:1994


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