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Volumn 7, Issue SUPPL. 1, 1997, Pages

Genealogical study of oculopharyngeal muscular dystrophy in France

Author keywords

France; Genealogy; Oculopharyngeal muscular dystrophy

Indexed keywords

CANADA; CELL NUCLEUS INCLUSION BODY; CONFERENCE PAPER; CRICOPHARYNGEUS MUSCLE; EXTRAOCULAR MUSCLE; FRANCE; GENEALOGY; GEOGRAPHIC DISTRIBUTION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; PRIORITY JOURNAL;

EID: 0030732151     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(97)00079-5     Document Type: Conference Paper
Times cited : (8)

References (34)
  • 1
    • 84939092946 scopus 로고
    • Progressive vagus-glossopharyngeal paralysis with ptosis: A contribution to the group of family disease
    • Taylor EW. Progressive vagus-glossopharyngeal paralysis with ptosis: a contribution to the group of family disease. J Nerv Ment Dis 1915;42:129-139.
    • (1915) J Nerv Ment Dis , vol.42 , pp. 129-139
    • Taylor, E.W.1
  • 2
    • 0000232611 scopus 로고
    • Oculopharyngeal muscular dystrophy; familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids
    • Victor M, Hayes R, Adams RD. Oculopharyngeal muscular dystrophy; familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids. N Engl J Med 1962;267:1267-1272.
    • (1962) N Engl J Med , vol.267 , pp. 1267-1272
    • Victor, M.1    Hayes, R.2    Adams, R.D.3
  • 3
  • 4
    • 0002827582 scopus 로고
    • Oculopharyngeal muscular dystrophy
    • Engel AG, Franzini-Armstrong C, editors. New York: McGraw-Hill
    • Tomé FMS, Fardeau, M. Oculopharyngeal muscular dystrophy. In: Engel AG, Franzini-Armstrong C, editors. Myology, 2nd edn, Vol 2. New York: McGraw-Hill, 1994;1223-1235.
    • (1994) Myology, 2nd Edn , vol.2 , pp. 1223-1235
    • Tomé, F.M.S.1    Fardeau, M.2
  • 5
    • 0030000607 scopus 로고    scopus 로고
    • Oculopharyngeal muscular dystrophy in two unrelated Japanese families
    • Uyama E, Nohira O, Chateau D, et al. Oculopharyngeal muscular dystrophy in two unrelated Japanese families. Neurology 1996;46:773-778.
    • (1996) Neurology , vol.46 , pp. 773-778
    • Uyama, E.1    Nohira, O.2    Chateau, D.3
  • 6
    • 0015070794 scopus 로고
    • La dystrophie musculaire progessive oculo-pharyngée (Étude de 21 observations appartenant à 5 familles espagnoles)
    • Fernandez-Martin F, Peres-Serra J, Grau-Veciana JM, BarraquerBordas L. La dystrophie musculaire progessive oculo-pharyngée (Étude de 21 observations appartenant à 5 familles espagnoles). Rev Neurol 1971;124:467-472.
    • (1971) Rev Neurol , vol.124 , pp. 467-472
    • Fernandez-Martin, F.1    Peres-Serra, J.2    Grau-Veciana, J.M.3    Barraquer-Bordas, L.4
  • 7
    • 0016551650 scopus 로고
    • Myopathie oculo-pharyngée: Observations histochimiques musculaires et dosage des immunoglobulines du sérum dans une famille italienne
    • Campanella G, Filla A, Serlenga L, Federico A, Buscaino GA. Myopathie oculo-pharyngée: observations histochimiques musculaires et dosage des immunoglobulines du sérum dans une famille italienne. Rev Neurol 1975;131:615-628.
    • (1975) Rev Neurol , vol.131 , pp. 615-628
    • Campanella, G.1    Filla, A.2    Serlenga, L.3    Federico, A.4    Buscaino, G.A.5
  • 8
    • 0023390480 scopus 로고
    • On some myopathies with oculomotor involvement
    • Martin JJ. On some myopathies with oculomotor involvement. Acta Neurol Belg 1987;87:207-228.
    • (1987) Acta Neurol Belg , vol.87 , pp. 207-228
    • Martin, J.J.1
  • 9
    • 0342754748 scopus 로고
    • Oculopharyngeal dystrophy; diagnostic problems and possibilities
    • Bastiaensen LAK, ed. Leyden: Staflen's Scientific Publishing Company
    • Bastiaensen LAK, Schulte BPM. Oculopharyngeal dystrophy; diagnostic problems and possibilities. In: Bastiaensen LAK, ed. Chronic Progressive External Ophthalmologia. Leyden: Staflen's Scientific Publishing Company, 1978;306-313.
    • (1978) Chronic Progressive External Ophthalmologia , pp. 306-313
    • Bastiaensen, L.A.K.1    Schulte, B.P.M.2
  • 11
    • 0019448016 scopus 로고
    • An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement
    • Schmitt HP, Krause KH. An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement. Muscle Nerve 1981;4:296-305.
    • (1981) Muscle Nerve , vol.4 , pp. 296-305
    • Schmitt, H.P.1    Krause, K.H.2
  • 12
    • 0019427389 scopus 로고
    • Familial late onset oculopharyngeal muscular dystrophy
    • Isenberg DA, Kahn P. Familial late onset oculopharyngeal muscular dystrophy. Postgrad Med J 1981;57:41-43.
    • (1981) Postgrad Med J , vol.57 , pp. 41-43
    • Isenberg, D.A.1    Kahn, P.2
  • 13
    • 0343189378 scopus 로고
    • Intranuclear tubulo-filamentous inclusions as morphological marker of oculopharyngeal muscular dystrophy
    • Tomé FMS, Leroy JP, Neville H, et al. Intranuclear tubulo-filamentous inclusions as morphological marker of oculopharyngeal muscular dystrophy (abstract). Muscle Nerve 1986;9 (Suppl ):212.
    • (1986) Muscle Nerve , vol.9 , Issue.SUPPL. , pp. 212
    • Tomé, F.M.S.1    Leroy, J.P.2    Neville, H.3
  • 14
    • 0000437976 scopus 로고
    • The muscular dystrophies
    • Mastaglia FL, Lord Walton of Detchant, editors. Edinburgh: Churchill Livingstone
    • Schmalbruch H. The muscular dystrophies. In: Mastaglia FL, Lord Walton of Detchant, editors. Skeletal Muscle Pathology, 2nd edn. Edinburgh: Churchill Livingstone, 1992;283-318.
    • (1992) Skeletal Muscle Pathology, 2nd Edn. , pp. 283-318
    • Schmalbruch, H.1
  • 17
    • 0015133914 scopus 로고
    • The histopathology of the pharynx and esophagus in oculopharyngeal muscular dystrophy. Case report and literature review
    • Weitzner S. The histopathology of the pharynx and esophagus in oculopharyngeal muscular dystrophy. Case report and literature review. Am J Gastroenterol 1971;56:378-382.
    • (1971) Am J Gastroenterol , vol.56 , pp. 378-382
    • Weitzner, S.1
  • 18
    • 4243371247 scopus 로고
    • Estudio eidemiologico de la distrofia muscular progressiva el Uruguay
    • Defféminis-Rospide HA, Pietra M, Vincent O, et al. Estudio eidemiologico de la distrofia muscular progressiva el Uruguay. Acta Neurol Latino Am 1978;24:115-128.
    • (1978) Acta Neurol Latino Am , vol.24 , pp. 115-128
    • Defféminis-Rospide, H.A.1    Pietra, M.2    Vincent, O.3
  • 21
    • 0024464204 scopus 로고
    • Nuclear inclusions in oculopharyngeal muscular dystrophy in Quebec
    • Bouchard JP, Gagné F, Tomé FMS, Brunet D. Nuclear inclusions in oculopharyngeal muscular dystrophy in Quebec. Can J Neurol Sci 1989; 16:446-450.
    • (1989) Can J Neurol Sci , vol.16 , pp. 446-450
    • Bouchard, J.P.1    Gagné, F.2    Tomé, F.M.S.3    Brunet, D.4
  • 22
    • 0002143475 scopus 로고
    • The syndrome of hereditary late onset ptosis and dysphagia in French Canada
    • E Kuhn, editor. Berlin: Springer-Verlag
    • Barbeau A. The syndrome of hereditary late onset ptosis and dysphagia in French Canada. In: E Kuhn, editor. Progressive Muskeldystrophie. Myotonie. Myasthenie. Berlin: Springer-Verlag, 1966;102-109.
    • (1966) Progressive Muskeldystrophie. Myotonie. Myasthenie , pp. 102-109
    • Barbeau, A.1
  • 23
    • 0014668363 scopus 로고
    • Les myopathies oculaires. A propos d'une observation familiale de dystrophie musculaire oculo-pharyngée et squelettique à début tardif
    • Manigand G, Lucsko M, Deparis M. Les myopathies oculaires. A propos d'une observation familiale de dystrophie musculaire oculo-pharyngée et squelettique à début tardif. Sem Hôp Paris 1969;45:2803-2809.
    • (1969) Sem Hôp Paris , vol.45 , pp. 2803-2809
    • Manigand, G.1    Lucsko, M.2    Deparis, M.3
  • 24
    • 18744418906 scopus 로고
    • Myopathie oculo-pharyngée
    • Petit H. Myopathie oculo-pharyngée. Rev Otoneuroophtalmol 1971;43:303-310.
    • (1971) Rev Otoneuroophtalmol , vol.43 , pp. 303-310
    • Petit, H.1
  • 27
  • 29
    • 0025132036 scopus 로고
    • Presence of inclusion body myositis-like filaments in oculopharyngeal muscular dystrophy. Ultrastructural study of 10 cases
    • Coquet M, Vital C, Julien J. Presence of inclusion body myositis-like filaments in oculopharyngeal muscular dystrophy. Ultrastructural study of 10 cases. Neuropathol Appl Neurobiol 1990;16:393-400.
    • (1990) Neuropathol Appl Neurobiol , vol.16 , pp. 393-400
    • Coquet, M.1    Vital, C.2    Julien, J.3
  • 31
    • 0025313528 scopus 로고
    • Dystrophie musculaire oculo-pharyngée. Recensement des familles françaises et étude généalogique
    • Brunet G, Tomé FMS, Samson F, Robert JM, Fardeau M. Dystrophie musculaire oculo-pharyngée. Recensement des familles françaises et étude généalogique. Rev Neurol (Paris) 1990;146:425-429.
    • (1990) Rev Neurol (Paris) , vol.146 , pp. 425-429
    • Brunet, G.1    Tomé, F.M.S.2    Samson, F.3    Robert, J.M.4    Fardeau, M.5
  • 32
    • 0008558973 scopus 로고
    • Strong linkage disequilibrium suggests one founder mutation is responsible for all cases of oculopharyngeal muscular dystrophy (OPMD) in the French Canadian population
    • Brais B, Morgan K, Xie Y, et al. Strong linkage disequilibrium suggests one founder mutation is responsible for all cases of oculopharyngeal muscular dystrophy (OPMD) in the French Canadian population. Am J Hum Genet 1995;57:A-160.
    • (1995) Am J Hum Genet , vol.57
    • Brais, B.1    Morgan, K.2    Xie, Y.3
  • 33
    • 0028915818 scopus 로고
    • The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2-ql3
    • Brais B, Xie Y-G, Sanson M, et al. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2-ql3. Hum Mol Genet 1995;4:429-434.
    • (1995) Hum Mol Genet , vol.4 , pp. 429-434
    • Brais, B.1    Xie, Y.-G.2    Sanson, M.3
  • 34
    • 0027016750 scopus 로고
    • Etude généalogique de la dystrophie oculo-pharyngée au Saguenay-Lac-St-Jean, Québec, Canada
    • Tremblay-Tymczuk S, Mathieu J, Morgan K, Bouchard JP, de Braekeleer M. Etude généalogique de la dystrophie oculo-pharyngée au Saguenay-Lac-St-Jean, Québec, Canada. Rev Neurol 1992;48:601-604.
    • (1992) Rev Neurol , vol.48 , pp. 601-604
    • Tremblay-Tymczuk, S.1    Mathieu, J.2    Morgan, K.3    Bouchard, J.P.4    De Braekeleer, M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.