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2015 | 4 | 319-322

Article title

Wkład Profesor Ireny Hausmanowej-Petrusewicz w rozwój genetyki chorób nerwowo-mięśniowych

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References

  • Hausmanowa I, Włodarczyk S. Zespół Laurence-Moon-Biedla u trojga rodzeństwa. Warszawa: Lekarski Instytut Naukowo-Wydawniczy;1949: 3–10.
  • Katsanis N, Ansley SJ , Badano JL, et al. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 2001; 293(5538): 2256–2259.
  • M’hamdi O, Ouertani I, Chaabouni-Bouhamed H. Update on the genetics of bardet-biedl syndrome. Mol Syndromol 2014;5(2): 51–56.
  • Emery AE, Hausmanowa-Petrusewicz I, Davie AM, et al. International collaborative study of the spinal muscular atrophies. Part 1. Analysis of clinical and laboratory data. J Neurol Sci 1976; 29(1): 83–94.5. Brzustowicz LM, Lehner T, Castilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 1990; 344(6266): 540–541.
  • Hausmanowa-Petrusewicz I, Prot J, Sawicka E. Zmienność dziecięcych i młodzieńczych postaci zaniku rdzeniowego mięśni.Warszawa: Rozprawy Wydziału Nauk Medycznych; 1966, X(IX): 185.
  • Hausmanowa-Petrusewicz I, Jędrzejowska H, Dietrich-Rap Z. Choroba Charcot-Marie-Tooth. Warszawa: Rozprawy Wydziału Nauk Medycznych 1967 r. R. XI(II ): 81–103.
  • Hausmanowa-Petrusewicz I, Jędrzejowska H, Rowińska-Marcińska K, et al. Coexistence of peroneal muscular atrophy and myotonic dystrophy features. In: Serratrice G., Roux H. (eds.). Peroneal atrophies and related disorders. New York: Masson;1979: 44–66.
  • Zimoń M, Baets J, Almeida-Souza L, et al. Loss-of-function mutations in HIN T1 cause axonal neuropathy with neuromyotonia.Nat Genet 2012; 44(10): 1080–1083.
  • Hausmanowa-Petrusewicz I, Borkowska J, Janczewski Z. X-linked adult form of spinal muscular atrophy. J Neurol 1983;229(3): 175–188.
  • Fischbeck KH, Ionasescu V, Ritter AW, et al. Localization of the gene for X-linked spinal muscular atrophy. Neurology 1986;36(12): 1595–1598.
  • Dreifuss FE, Hogan GR. Survival in x-chromosomal muscular dystrophy. Neurology 1961; 11: 734–737.
  • Thomas PK, Calne DB, Elliott CF. X-linked scapuloperoneal syndrome. J Neurol Neurosurg Psychiatr 1972; 35: 208–215.
  • Boswinkel E, Walker A, Hodgson S, et al. Linkage analysis using eight DN A polymorphisms along the length of the X chromosome locates the gene for Emery-Dreyfuss muscular dystrophy to distal Xq. (Abstract). Cytogenet Cell Genet 1985; 40: 586.
  • Yates JR , Affara NA, Jamieson DM, et al. Emery-Dreifuss muscular dystrophy: localisation to Xq27.3-qter confirmed by linkage to the factor VIII gene. J Med Genet 1986; 23(6): 587–590.
  • Yates JR , Warner JP, Smith JA, et al. Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28. J Med Genet 1993;30(2): 108–111.
  • Bonne G, Yaou RB, Béroud C, et al. The 108th EN MC International Workshop, 3rd Workshop of the MYO-CLUSTER project:EURO MEN , 7th International Emery-Dreifuss Muscular Dystrophy (ED MD) Workshop, 13–15 September 2002, Naarden, The Netherlands. Neuromuscul Disord 2003; 13(6): 508–515
  • Raffaele Di Barletta M, Ricci E, et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 2000; 66(4): 1407–1412.
  • Goldberg LR, Hausmanowa-Petrusewicz I, Fidzianska A, et al. A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype. Ann Neurol 1998; 44(6): 971–976.
  • Chou FL, Angelini C, Daentl D, et al. Calpain III mutation analysis of a heterogenous limb-girdle muscular dystrophy population.Neurology 1999; 52: 1015–1020.
  • Zimowski JG, Bisko MU, Fidziańska EJ , et al. Detection of deletions within the dystrophin gene in Polish families affected with Duchenne/Becker muscular dystrophy. Eur J Neurol 1997; 4: 138–142.
  • Hausmanowa-Petrusewicz I, Emeryk B. Electrophysiologic examination in polyneuropathies. Comparison of changes in motor and sensory nerves (Polish). Neurol Neurochir Polska 1974; 8: 145–151.
  • Lewis RA, Sumner AJ. The electrodiagnostics distinctions between chronic familiar and acquires demelinative neuropathies.Neurology 1982; 32: 592–596.
  • Miller RG, Gutman L, Lewis RA, et al. Acquired versus familial demyelinative neuropathies in children. Muscle Nerve 1985;8: 205–210.
  • Bolino A, Levy ER , Muglia M, et al. Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.Genomics 2000; 63: 271–278.
  • Bolino A, Muglia M, Conforti FL, et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nature Genet 2000; 25: 17–19.
  • Hausmanowa-Petrusewicz I, red. Choroby nerwowo-mięśniowe. Lublin: Wydawnictwo Czelej; 2013

Document Type

Publication order reference

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YADDA identifier

bwmeta1.element.desklight-f74e9cb0-f7fa-4a00-b545-2d27cf171be0
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