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Volumn 123, Issue 7, 2000, Pages 1516-1527

Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A

Author keywords

Axonal degeneration; CMT; Demyelination; Nerve conduction velocities

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME 17; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; DISABILITY; ELECTROPHYSIOLOGY; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MUSCLE ACTION POTENTIAL; MUSCLE WEAKNESS; NERVE CONDUCTION; NERVE FIBER; NERVE FIBER DEGENERATION; NEUROLOGIC DISEASE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; REFLEX DISORDER; SENSORY DYSFUNCTION;

EID: 0033921060     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/123.7.1516     Document Type: Article
Times cited : (361)

References (65)
  • 2
    • 0017737177 scopus 로고
    • Peroneal muscular atrophy (PMA) and related disorders. II. Histological findings in sural nerves
    • Behse F, Buchthal F. Peroneal muscular atrophy (PMA) and related disorders. II. Histological findings in sural nerves. Brain 1977; 100: 67-85.
    • (1977) Brain , vol.100 , pp. 67-85
    • Behse, F.1    Buchthal, F.2
  • 3
    • 0024554331 scopus 로고
    • The application of nerve conduction and clinical studies to genetic counselling in hereditary motor and sensory neuropathy type I
    • Berciano J, Combarros O, Calleja J, Polo JM, Leno C. The application of nerve conduction and clinical studies to genetic counselling in hereditary motor and sensory neuropathy type I. Muscle Nerve 1989; 12: 302-6.
    • (1989) Muscle Nerve , vol.12 , pp. 302-306
    • Berciano, J.1    Combarros, O.2    Calleja, J.3    Polo, J.M.4    Leno, C.5
  • 4
    • 0020073371 scopus 로고
    • Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1
    • Bird TD, Ott J, Giblett ER. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet 1982; 34: 388-94.
    • (1982) Am J Hum Genet , vol.34 , pp. 388-394
    • Bird, T.D.1    Ott, J.2    Giblett, E.R.3
  • 5
    • 0030919339 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication: Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases
    • Birouk N, Gouider R, Le Guern E, Gugenheim M, Tardieu S, Maisonobe T, et al. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication: clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 1997; 120: 813-23.
    • (1997) Brain , vol.120 , pp. 813-823
    • Birouk, N.1    Gouider, R.2    Le Guern, E.3    Gugenheim, M.4    Tardieu, S.5    Maisonobe, T.6
  • 7
    • 0017872262 scopus 로고
    • Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrome
    • Brust JC, Lovelace RE, Devi S. Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrome. Acta Neurol Scand Suppl 1978; 68: 1-142.
    • (1978) Acta Neurol Scand Suppl , vol.68 , pp. 1-142
    • Brust, J.C.1    Lovelace, R.E.2    Devi, S.3
  • 8
    • 0017648231 scopus 로고
    • Peroneal muscular atrophy (PMA) and related disorders. I. Clinical manisfestations as related to biopsy findings, nerve conduction and electromyography
    • Buchthal F, Behse F. Peroneal muscular atrophy (PMA) and related disorders. I. Clinical manisfestations as related to biopsy findings, nerve conduction and electromyography. Brain 1977; 100: 41-66.
    • (1977) Brain , vol.100 , pp. 41-66
    • Buchthal, F.1    Behse, F.2
  • 9
    • 0002896804 scopus 로고
    • Sur une forme particulière d'atrophie musculaire progressive souvent familiale débutant par les pieds et les jambes et atteignant plus tard les mains
    • Charcot JM, Marie P. Sur une forme particulière d'atrophie musculaire progressive souvent familiale débutant par les pieds et les jambes et atteignant plus tard les mains. Rev Med 1886; 6: 97-138.
    • (1886) Rev Med , vol.6 , pp. 97-138
    • Charcot, J.M.1    Marie, P.2
  • 10
    • 0023113382 scopus 로고
    • Prevalence of hereditary motor and sensory neuropathy in Cantabria
    • Combarros O, Calleja J, Polo JM, Berciano J. Prevalence of hereditary motor and sensory neuropathy in Cantabria. Acta Neurol Scand 1987; 75: 9-12.
    • (1987) Acta Neurol Scand , vol.75 , pp. 9-12
    • Combarros, O.1    Calleja, J.2    Polo, J.M.3    Berciano, J.4
  • 12
    • 0028857121 scopus 로고
    • Estimating the number of motor units in a muscle
    • Daube JR. Estimating the number of motor units in a muscle. J Clin Neurophysiol 1995; 12: 585-94.
    • (1995) J Clin Neurophysiol , vol.12 , pp. 585-594
    • Daube, J.R.1
  • 13
    • 0018222952 scopus 로고
    • The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification
    • Davis CJ, Bradley WG, Madrid R. The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. J Genet Hum 1978; 26: 311-49.
    • (1978) J Genet Hum , vol.26 , pp. 311-349
    • Davis, C.J.1    Bradley, W.G.2    Madrid, R.3
  • 14
    • 0025438055 scopus 로고
    • Altered slow axonal transport and regeneration in a myelin-deficient mutant mouse: The trembler as an in vivo model for Schwann cell-axon interactions
    • de Waegh S, Brady ST. Altered slow axonal transport and regeneration in a myelin-deficient mutant mouse: the trembler as an in vivo model for Schwann cell-axon interactions. J Neurosci 1990; 10: 1855-65.
    • (1990) J Neurosci , vol.10 , pp. 1855-1865
    • De Waegh, S.1    Brady, S.T.2
  • 15
    • 0026580004 scopus 로고
    • Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells
    • de Waegh SM, Lee VM-Y, Brady ST. Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells. Cell 1992; 68: 451-63.
    • (1992) Cell , vol.68 , pp. 451-463
    • Waegh, S.M.1    Lee, V.-Y.2    Brady, S.T.3
  • 16
    • 0001195801 scopus 로고
    • Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory, and autonomic neurons
    • Dyck PJ, Thomas PK, Lambert EH, Bunge R, editors. Philadelphia: W.B. Saunders
    • Dyck PJ. Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory, and autonomic neurons. In: Dyck PJ, Thomas PK, Lambert EH, Bunge R, editors. Peripheral neuropathy. 2nd ed. Philadelphia: W.B. Saunders; 1984. p. 1600-42.
    • (1984) Peripheral Neuropathy. 2nd Ed. , pp. 1600-1642
    • Dyck, P.J.1
  • 17
    • 0014301249 scopus 로고
    • Lower motor and primary sensory neuron diseases with peroneal muscular atrophy I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies
    • Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol 1968; 18: 603-18.
    • (1968) Arch Neurol , vol.18 , pp. 603-618
    • Dyck, P.J.1    Lambert, E.H.2
  • 18
    • 0014253874 scopus 로고
    • Histologic and teased-fiber measurements of sural nerve in disorders of lower motor and primary sensory neurons
    • Dyck PJ, Gutrecht JA, Bastron JA, Karnes WE, Dale AJ. Histologic and teased-fiber measurements of sural nerve in disorders of lower motor and primary sensory neurons. Mayo Clin Proc 1968; 43: 81-123.
    • (1968) Mayo Clin Proc , vol.43 , pp. 81-123
    • Dyck, P.J.1    Gutrecht, J.A.2    Bastron, J.A.3    Karnes, W.E.4    Dale, A.J.5
  • 19
    • 0027169817 scopus 로고
    • A 4,2, and 1 stepping algorithm for quick and accurate estimation of cutaneous sensation threshold
    • Dyck PJ, O'Brien PC, Kosanke JL, Gillen DA, Karnes JL. A 4,2, and 1 stepping algorithm for quick and accurate estimation of cutaneous sensation threshold. Neurology 1993; 43: 1508-12.
    • (1993) Neurology , vol.43 , pp. 1508-1512
    • Dyck, P.J.1    O'Brien, P.C.2    Kosanke, J.L.3    Gillen, D.A.4    Karnes, J.L.5
  • 20
    • 0345211489 scopus 로고    scopus 로고
    • Loss of distal axons and sensory Merkel cells and features indicative of muscle denervation in hindlimbs of P0-deficient mice
    • Frei R, Motzing S, Kinkelin I, Schachner M, Koltzenberg M, Martini R. Loss of distal axons and sensory Merkel cells and features indicative of muscle denervation in hindlimbs of P0-deficient mice. J Neurosci 1999; 19: 6058-67.
    • (1999) J Neurosci , vol.19 , pp. 6058-6067
    • Frei, R.1    Motzing, S.2    Kinkelin, I.3    Schachner, M.4    Koltzenberg, M.5    Martini, R.6
  • 21
    • 0033554292 scopus 로고    scopus 로고
    • Trophic factors in neuron-Schwann cell interactions
    • Friedman HCH, Aguayo AJ, Bray GM. Trophic factors in neuron-Schwann cell interactions. Ann NY Acad Sci 1999; 883: 427-38.
    • (1999) Ann NY Acad Sci , vol.883 , pp. 427-438
    • Friedman, H.C.H.1    Aguayo, A.J.2    Bray, G.M.3
  • 22
    • 0031900413 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: A longitudinal clinical and electrophysiologic study
    • Garcia A, Combarros O, Calleja J, Berciano J. Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study. Neurology 1998; 50: 1061-7.
    • (1998) Neurology , vol.50 , pp. 1061-1067
    • Garcia, A.1    Combarros, O.2    Calleja, J.3    Berciano, J.4
  • 23
    • 77957213144 scopus 로고
    • Extreme slowing of nerve conduction in peroneal muscular atrophy
    • Gilliatt RW, Thomas PK. Extreme slowing of nerve conduction in peroneal muscular atrophy. Ann Phys Med 1957; 14: 104-6.
    • (1957) Ann Phys Med , vol.14 , pp. 104-106
    • Gilliatt, R.W.1    Thomas, P.K.2
  • 24
    • 0018942439 scopus 로고
    • The clinical features of hereditary motor and sensory neuropathy types I and II
    • Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980a; 103: 259-80.
    • (1980) Brain , vol.103 , pp. 259-280
    • Harding, A.E.1    Thomas, P.K.2
  • 25
    • 0018949405 scopus 로고
    • Genetic aspects of hereditary motor and sensory neuropathy (types I and II)
    • Harding AE, Thomas PK. Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J Med Genet 1980b; 17: 329-36.
    • (1980) J Med Genet , vol.17 , pp. 329-336
    • Harding, A.E.1    Thomas, P.K.2
  • 26
    • 0020683886 scopus 로고
    • Intensive immunosuppression in progressive multiple sclerosis: A randomized, three-arm study of high-dose intravenous cyclophosphamide, plasma exchange, and ACTH
    • Hauser SL, Dawson DM, Lehrich JR, Beal MF, Kevy SV, Propper RD, et al. Intensive immunosuppression in progressive multiple sclerosis: a randomized, three-arm study of high-dose intravenous cyclophosphamide, plasma exchange, and ACTH. N Engl J Med 1983; 308: 173-80.
    • (1983) N Engl J Med , vol.308 , pp. 173-180
    • Hauser, S.L.1    Dawson, D.M.2    Lehrich, J.R.3    Beal, M.F.4    Kevy, S.V.5    Propper, R.D.6
  • 28
    • 0001666856 scopus 로고
    • Ueber progressive neurotische Muskelatrophie
    • Hoffmann J. Ueber progressive neurotische Muskelatrophie. Arch Psychiat Nervenkr 1889; 20: 660-713.
    • (1889) Arch Psychiat Nervenkr , vol.20 , pp. 660-713
    • Hoffmann, J.1
  • 29
    • 0028137741 scopus 로고
    • Hereditary motor and sensory neuropathy type I: Clinical and neurographical features of the 17p duplication subtype
    • Hoogendijk JE, De Visser M, Bolhuis PA, Hart AA, Ongerboer de Visser BW. Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype. Muscle Nerve 1994; 17: 85-90.
    • (1994) Muscle Nerve , vol.17 , pp. 85-90
    • Hoogendijk, J.E.1    De Visser, M.2    Bolhuis, P.A.3    Hart, A.A.4    Ongerboer De Visser, B.W.5
  • 30
    • 0033586333 scopus 로고    scopus 로고
    • Modulation of cell-mediated immunity prolongs adenovirus-mediated transgene expression in sciatic nerve
    • Jani A, Menichella D, Jiang H, Chbihi T, Acsadi G, Shy ME, et al. Modulation of cell-mediated immunity prolongs adenovirus-mediated transgene expression in sciatic nerve. Hum Gene Ther 1999; 10: 787-800.
    • (1999) Hum Gene Ther , vol.10 , pp. 787-800
    • Jani, A.1    Menichella, D.2    Jiang, H.3    Chbihi, T.4    Acsadi, G.5    Shy, M.E.6
  • 31
    • 0027753971 scopus 로고
    • Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1
    • Kaku DA, Parry GJ, Malamut R, Lupski JR, Garcia CA. Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1. Neurology 1993a; 43: 2664-7.
    • (1993) Neurology , vol.43 , pp. 2664-2667
    • Kaku, D.A.1    Parry, G.J.2    Malamut, R.3    Lupski, J.R.4    Garcia, C.A.5
  • 32
    • 0027518166 scopus 로고
    • Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17
    • Kaku DA, Parry GJ, Malamut R, Lupski JR, Garcia CA. Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology 1993b; 43: 1806-8.
    • (1993) Neurology , vol.43 , pp. 1806-1808
    • Kaku, D.A.1    Parry, G.J.2    Malamut, R.3    Lupski, J.R.4    Garcia, C.A.5
  • 33
    • 0028001744 scopus 로고
    • Distal accentuation of conduction slowing in polyneuropathy associated with antibodies to myelin-associated glycoprotein and sulphated glucuronyl paragloboside
    • Kaku DA, England JD, Sumner AJ. Distal accentuation of conduction slowing in polyneuropathy associated with antibodies to myelin-associated glycoprotein and sulphated glucuronyl paragloboside. Brain 1994; 117: 941-7.
    • (1994) Brain , vol.117 , pp. 941-947
    • Kaku, D.A.1    England, J.D.2    Sumner, A.J.3
  • 34
    • 0030034214 scopus 로고    scopus 로고
    • Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy
    • Killian JM, Tiwari PS, Jacobson S, Jackson RD, Lupski JR. Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy. Muscle Nerve 1996; 19: 74-8.
    • (1996) Muscle Nerve , vol.19 , pp. 74-78
    • Killian, J.M.1    Tiwari, P.S.2    Jacobson, S.3    Jackson, R.D.4    Lupski, J.R.5
  • 35
    • 0000949092 scopus 로고
    • Nerve conduction studies and electromyography
    • Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, editors. Philadelphia: W.B. Saunders
    • Kimura J. Nerve conduction studies and electromyography. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, editors. Peripheral neuropathy. 3rd ed. Philadelphia: W.B. Saunders; 1993. p. 598-644.
    • (1993) Peripheral Neuropathy. 3rd Ed. , pp. 598-644
    • Kimura, J.1
  • 36
    • 0020078781 scopus 로고
    • The electrodiagnostic distinctions between chronic familial and acquired demyelinative neuropathies
    • Lewis RA, Sumner AJ. The electrodiagnostic distinctions between chronic familial and acquired demyelinative neuropathies. Neurology 1982; 32: 592-6.
    • (1982) Neurology , vol.32 , pp. 592-596
    • Lewis, R.A.1    Sumner, A.J.2
  • 37
    • 0343609134 scopus 로고    scopus 로고
    • Motor unit number estimation (MUNE) of proximal and distal upper extremity muscles in CMTIA, CMTX, and CMT2
    • Lewis RA, Krajewski KM, Tate B, Shy ME. Motor unit number estimation (MUNE) of proximal and distal upper extremity muscles in CMTIA, CMTX, and CMT2 [abstract]. Neurology 2000; 54: A70.
    • (2000) Neurology , vol.54
    • Lewis, R.A.1    Krajewski, K.M.2    Tate, B.3    Shy, M.E.4
  • 38
    • 0017151543 scopus 로고
    • Hereditary hypertrophic neuropathy in the trembler mouse. 1. Histopathological studies: Light microscopy
    • Low PA. Hereditary hypertrophic neuropathy in the trembler mouse. 1. Histopathological studies: light microscopy. J Neurol Sci 1976; 30: 327-41.
    • (1976) J Neurol Sci , vol.30 , pp. 327-341
    • Low, P.A.1
  • 39
    • 0016784725 scopus 로고
    • Hereditary demyelinating neuropathy in the trembler mouse
    • Low PA, McLeod JG. Hereditary demyelinating neuropathy in the trembler mouse. J Neurol Sci 1975; 26: 565-74.
    • (1975) J Neurol Sci , vol.26 , pp. 565-574
    • Low, P.A.1    McLeod, J.G.2
  • 41
    • 0025169909 scopus 로고
    • Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17
    • Middleton-Price HR, Harding AE, Monteiro C, Berciano J, Malcolm S. Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17. Am J Hum Genet 1990; 46: 92-4.
    • (1990) Am J Hum Genet , vol.46 , pp. 92-94
    • Middleton-Price, H.R.1    Harding, A.E.2    Monteiro, C.3    Berciano, J.4    Malcolm, S.5
  • 43
    • 0029863589 scopus 로고    scopus 로고
    • Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study
    • Nelis E, Van Broeckhoven C, De Jonghe P, Lofgren A, Vandenberghe A, Latour P, et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996; 4: 25-33.
    • (1996) Eur J Hum Genet , vol.4 , pp. 25-33
    • Nelis, E.1    Van Broeckhoven, C.2    De Jonghe, P.3    Lofgren, A.4    Vandenberghe, A.5    Latour, P.6
  • 44
    • 0025892749 scopus 로고
    • Penetrance of the hereditary motor and sensory neuropathy 1A mutation
    • Nicholson GA. Penetrance of the hereditary motor and sensory neuropathy 1A mutation. Neurology 1991; 41: 547-52.
    • (1991) Neurology , vol.41 , pp. 547-552
    • Nicholson, G.A.1
  • 45
    • 0030220893 scopus 로고    scopus 로고
    • Neurotrophic survival molecules for motoneurons: An embarrassment of riches
    • Oppenheim RW. Neurotrophic survival molecules for motoneurons: an embarrassment of riches. [Review], Neuron 1996; 17: 195-7.
    • (1996) Neuron , vol.17 , pp. 195-197
    • Oppenheim, R.W.1
  • 46
    • 0028874195 scopus 로고
    • Developing motor neurons rescued from programmed and axotomy-induced cell death by GDNF
    • Oppenheim RW, Houenou LJ, Johnson JE, Lin L-FH, Li L, Lo AC, et al. Developing motor neurons rescued from programmed and axotomy-induced cell death by GDNF. Nature 1995; 373: 344-6.
    • (1995) Nature , vol.373 , pp. 344-346
    • Oppenheim, R.W.1    Houenou, L.J.2    Johnson, J.E.3    Lin, L.-F.4    Li, L.5    Lo, A.C.6
  • 47
    • 0024309042 scopus 로고
    • Absence of genetic linkage of Charcot-Marie-Tooth disease (HMSN Ia) with chromosome 1 gene markers
    • Raeymaekers P, De Jonghe P, Backhovens H, Wehnert A, De Winter G, Swerts L, et al. Absence of genetic linkage of Charcot-Marie-Tooth disease (HMSN Ia) with chromosome 1 gene markers. Neurology 1989; 39: 844-6.
    • (1989) Neurology , vol.39 , pp. 844-846
    • Raeymaekers, P.1    De Jonghe, P.2    Backhovens, H.3    Wehnert, A.4    De Winter, G.5    Swerts, L.6
  • 48
    • 0025997898 scopus 로고
    • Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group
    • Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord 1991; 1: 93-7.
    • (1991) Neuromuscul Disord , vol.1 , pp. 93-97
    • Raeymaekers, P.1    Timmerman, V.2    Nelis, E.3    De Jonghe, P.4    Hoogendijk, J.E.5    Baas, F.6
  • 49
    • 0025061276 scopus 로고
    • A computer simulation of conduction block: Effects produced by actual block versus interphase cancellation
    • Rhee EK, England JD, Sumner AJ. A computer simulation of conduction block: effects produced by actual block versus interphase cancellation. Ann Neurol 1990; 28: 146-56.
    • (1990) Ann Neurol , vol.28 , pp. 146-156
    • Rhee, E.K.1    England, J.D.2    Sumner, A.J.3
  • 50
    • 0028016137 scopus 로고
    • CNTF potentiates peripheral nerve regeneration
    • Sahenk Z, Seharaseyon J, Mendell JR. CNTF potentiates peripheral nerve regeneration. Brain Res 1994; 655: 246-50.
    • (1994) Brain Res , vol.655 , pp. 246-250
    • Sahenk, Z.1    Seharaseyon, J.2    Mendell, J.R.3
  • 51
    • 0032948050 scopus 로고    scopus 로고
    • Effects of PMP22 duplication and deletions on the axonal cytoskeleton
    • Sahenk Z, Chen L, Mendell JR. Effects of PMP22 duplication and deletions on the axonal cytoskeleton. Ann Neurol 1999; 45: 16-24.
    • (1999) Ann Neurol , vol.45 , pp. 16-24
    • Sahenk, Z.1    Chen, L.2    Mendell, J.R.3
  • 52
    • 0032815826 scopus 로고    scopus 로고
    • Distal axonopathy in peripheral nerves of PMP22-mutant mice
    • Sancho S, Magyar JP, Aguzzi A, Suterl U. Distal axonopathy in peripheral nerves of PMP22-mutant mice. Brain 1999; 122: 1563-77.
    • (1999) Brain , vol.122 , pp. 1563-1577
    • Sancho, S.1    Magyar, J.P.2    Aguzzi, A.3    Suterl, U.4
  • 53
    • 0001265104 scopus 로고
    • Projection technique for evaluating surgery in Parkinson's disease
    • Gillingham FJ, Donaldson IML, editors. Edinburgh: E. & S. Livingstone
    • Schwab RS, England AC. Projection technique for evaluating surgery in Parkinson's disease. In: Gillingham FJ, Donaldson IML, editors. Third symposium on Parkinson's disease. Edinburgh: E. & S. Livingstone; 1969. p. 152-7.
    • (1969) Third Symposium on Parkinson's Disease , pp. 152-157
    • Schwab, R.S.1    England, A.C.2
  • 54
    • 0026749255 scopus 로고
    • Ciliary neurotrophic factor prevents degeneration of motor neurons in mouse mutant progressive motor neuronopathy
    • Sendtner M, Schmalbruch H, Stockli KA, Carroll P, Kreutzberg GW, Thoenen H. Ciliary neurotrophic factor prevents degeneration of motor neurons in mouse mutant progressive motor neuronopathy. Nature 1992; 358: 502-4.
    • (1992) Nature , vol.358 , pp. 502-504
    • Sendtner, M.1    Schmalbruch, H.2    Stockli, K.A.3    Carroll, P.4    Kreutzberg, G.W.5    Thoenen, H.6
  • 55
    • 0029120917 scopus 로고
    • An adenoviral vector can transfer lacZ expression into Schwann cells in culture and in sciatic nerve
    • Shy ME, Tani M, Shi YJ, Whyatt SA, Chbihi T, Scherer SS, et al. An adenoviral vector can transfer lacZ expression into Schwann cells in culture and in sciatic nerve. Ann Neurol 1995; 38: 429-36.
    • (1995) Ann Neurol , vol.38 , pp. 429-436
    • Shy, M.E.1    Tani, M.2    Shi, Y.J.3    Whyatt, S.A.4    Chbihi, T.5    Scherer, S.S.6
  • 56
    • 0016266593 scopus 로고
    • Genetic and clinical aspects of Charcot-Marie-Tooth's disease
    • Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 1974; 6: 98-118.
    • (1974) Clin Genet , vol.6 , pp. 98-118
    • Skre, H.1
  • 57
    • 0015990238 scopus 로고
    • Motor nerve conduction velocity in peroneal muscular atrophy: Evidence for genetic heterogeneity
    • Thomas PK, Calne DB. Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity. J Neurol Neurosurg Psychiatry 1974; 37: 68-74.
    • (1974) J Neurol Neurosurg Psychiatry , vol.37 , pp. 68-74
    • Thomas, P.K.1    Calne, D.B.2
  • 61
    • 0028004013 scopus 로고
    • Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1
    • Watson DF, Nachtman FN, Kuncl RW, Griffin JW. Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1. Neurology 1994; 44: 2383-7.
    • (1994) Neurology , vol.44 , pp. 2383-2387
    • Watson, D.F.1    Nachtman, F.N.2    Kuncl, R.W.3    Griffin, J.W.4
  • 62
    • 0027374931 scopus 로고
    • Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication
    • Wise CA, Garcia CA. Davis SN, Heju Z, Pentao L, Patel PI, et al. Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am J Hum Genet 1993; 53: 853-63.
    • (1993) Am J Hum Genet , vol.53 , pp. 853-863
    • Wise, C.A.1    Garcia, C.A.2    Davis, S.N.3    Heju, Z.4    Pentao, L.5    Patel, P.I.6
  • 63
    • 0028854836 scopus 로고
    • In vivo neurotrophic effects of GDNF on neonatal and adult facial motor neurons
    • Van Q, Matheson C, Lopez OT. In vivo neurotrophic effects of GDNF on neonatal and adult facial motor neurons. Nature 1995; 373: 341-4.
    • (1995) Nature , vol.373 , pp. 341-344
    • Van, Q.1    Matheson, C.2    Lopez, O.T.3
  • 64
    • 0033605123 scopus 로고    scopus 로고
    • A glial-neuronal signaling pathway revealed by mutations in a neurexin-related protein
    • Yuan LL, Ganetzky B. A glial-neuronal signaling pathway revealed by mutations in a neurexin-related protein. Science 1999; 283: 1343-5.
    • (1999) Science , vol.283 , pp. 1343-1345
    • Yuan, L.L.1    Ganetzky, B.2
  • 65
    • 0030864155 scopus 로고    scopus 로고
    • Longitudinal study of fiber density and motor unit number estimate in patients with amyotrophic lateral sclerosis
    • Yuen EC, Olney RK. Longitudinal study of fiber density and motor unit number estimate in patients with amyotrophic lateral sclerosis. Neurology 1997; 49: 573-8.
    • (1997) Neurology , vol.49 , pp. 573-578
    • Yuen, E.C.1    Olney, R.K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.