biomedicina slovenica

"CHARCOT-MARIE DISEASE" : 18

  1. Butinar Dušan; Starr Arnold; Zidar Janez; Koutsou P.; Christodoulou K.
    Auditory nerve is affected in one of two different point mutations of the neurofilament light gene
    2008 ►
  2. Stangler-Herodež Špela; Zagradišnik Boris; Kokalj-Vokač Nadja
    MLPA method for PMP22 gene analysis
    2005 ►
  3. Stalberg Erik V; Trontelj Jože V
    Single-fiber electromyography and other electrophysiologic techniques for the study of the motor unit
    2005 ►
  4. Leonardis Lea; Zidar Janez; Peterlin Borut
    Populacijska študija najpogostejših demielinizacijskih bolezni Charcot-Marie-Tooth v Sloveniji
    [The most frequent types of demyelinative Charot-Marie-Tooth disease in Slovenia: a population-based study]
    2003 ►
  5. Leonardis Lea; Zidar Janez; Peterlin Borut
    Bolezen Charcot-Marie-Tooth
    [Charcot-Marie-Tooth disease]
    2003 ►
  6. Georgiou Domna-Maria; Zidar Janez; Korošec Marko; Middleton Lefkos T; Kyriakides Theodoros; Christodoulou Kyproula
    A novel NF-L mutation Pro22Ser is associated with CMT2 in large Slovenian family
    2002 ►
  7. Seeman P; Mazanec R; Zidar J; Hrusakova S; Ctvrteckova M; Rautenstrauss B
    Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs
    2000 ►
  8. Leonardis Lea; Zidar Janez; Rautenstrauss Bernd
    Specific genotypes can only partly explain the great variability in the Charcot-Marie-tooth 1A disease phenotype
    2000 ►
  9. Keser D; Remetić N; Ajanović E; Sinanović O; Keser S
    Pulmonary insufficiency in patients with Charcot-Marie-Tooth disease and muscular dystrophy
    1999 ►
  10. Butinar Dušan; Starr Arnold
    Diagnostic strategy in patients with auditory neuropathy associated with HMSN type I
    1998 ►
  11. Leonardis Lea; Rautenstrauss Bernd; Peterlin Borut; Zidar Janez
    Variability of electrophysiological and clinical presentation of Charot-Marie-tooth disease type 1 (CMT1)
    1997 ►
  12. Leonardis Lea; Zidar Janez; Ekici Arif; Peterlin Borut; Rautenstrauss Bernd
    Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination "hotspot" in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation
    1998 ►
  13. Leonardis L; Zidar J; Peterlin B; Rautenstrauss B
    Recombination frequencies of CMT1 duplication and HNPP deletion inside a "hot spot"
    1997 ►
  14. Leonardis Lea; Peterlin Borut; Ekici Arif; Bathke Klaus D; Rautenstrauss Bernd; Zidar Janez
    Phenotype variability in Charcot-Marie-tooth disease (CMT) type 1A
    1996 ►
  15. Leonardis L; Peterlin B; Ekici A; Bathke KD; Rautenstrauss B; Zidar J
    Phenotype variability in charcot-marie-tooth disease (CMT) type 1A
    1996 ►
  16. Rautenstrauss B
    Genetic and biological aspects of Charcot Marie tooth disease and related peripheral neuropathies
    1996 ►
  17. Leonardis L; Zidar J; Trontelj J; Peterlin B
    Correlations between clinical, electrophysiological and genetic findings in hereditary motor and sensory neuropathy type I (HMSN I)
    1996 ►
  18. Peterlin Borut
    DNK analiza pri živčnomišičnih boleznih
    1995 ►


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