Irena hausmanowa-petrusewicz biography of christopher

  • Professor Irena Hausmanowa-Petrusewicz, one of the most distinguished Polish neurologists, a leader in the field of neuromuscular diseases and.
  • I Hausmanowa-Petrusewicz's research works with citations, including: Correlating motor unit morphology with bioelectrical activity - A simulation.
  • Irena Hausmanowa-Petrusewicz concluded the congress reporting various aspects of laminopathies in Poland.
  • Spinal and bulbar muscular atrophy

    This article is about a type of spinal muscular atrophy linked to a genetic defect in the AR gene. For a list of other conditions with similar names, see Spinal muscular atrophies.

    Medical condition

    Spinal and bulbar muscular atrophy
    Other namesKennedy's disease (KD), spinobulbar muscular atrophy, bulbo-spinal atrophy, X-linked bulbospinal neuropathy (XBSN), X-linked spinal muscular atrophy type 1 (SMAX1), and many other names[1]
    This disorder is inherited via X-linked recessive manner
    SpecialtyNeurology&#;
    SymptomsWeakness of limb and bulbar muscles, tremor, fasciculations, muscle cramps, dysarthria and dysphagia
    CausesMutation in the AR gene
    Diagnostic methodNumber of CAG repeats in the AR gene
    TreatmentSupportive Care

    Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused bygd trinu

    Scientist Panels

    SCIENTIST PANELS CHAIRPERSONS Alcoholic effects on huvud peripheral nervous system Gunnar Bovim (Norway), Matti Hillbom (Finland) ALS and non-dementing degenerative disorders Nigel Peter Leigh (UK), Albert C. Ludolph (Germany), Vincenzo Silani (Italy), Lars-Olof Ronnevi (Sweden), Michael Swash (UK) Autonomic nervous system disorders Pietro Cortelli (Italy), Max J. Hilz (Germany), Christopher Mathias (UK), David B. Vodusek (Slovenia) Brain recovery and rehabilitation Heinrich Binder (Austria) Cerebrospinal Fluid CSF Florian Deisenhammer (Austria) Child neurology Folker Hanefeld (Germany), Richard Robinson (UK), Ola H. Skjeldal (Norway), Antonio Federico (Italy) Cognitive neurology Stefano Cappa (Italy), Oguz Tanridag (Turkey) Cortical function (neuropsychology) Alexandre Castro Caldas (Portugal) Cortical function & speech and Language disorders Stefano Cappa (Italy) Critical Ca
  • irena hausmanowa-petrusewicz biography of christopher
  • Abstract

    Lamins (LMNA) are the main proteins of the nuclear lamina considered to be the ancestors of all intermediate filament proteins. They form complex protein assemblies with integral proteins of the inner nuclear membrane, transcriptional regulators, histones and chromatin modifiers. During recent years, interest in lamins has greatly increased due to the identification of many distinct heritable human disorders associated with lamin mutations. These disorders, collectively termed laminopathies, range from muscular dystrophies to premature aging. They may affect muscle, fat, bone, nerve and skin tissues. The workshop was addressed to understand lamin organization and its roles in nuclear processes, mutations in lamins affecting cell and tissues functions, the biology of the nucleus and laminopathic disease mechanisms, all aspects important for designing future therapies.

    Key words: LMNA A/C gene, laminopathies, Emery-Dreifuss muscular dystrophy


    A workshop dedicated to the