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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
1

Chemically induced myotonia in mammalian and amphibian skeletal muscle.

Dawe, Susan Roslyn. January 1979 (has links) (PDF)
Thesis (M.Sc.) -- University of Adelaide, Dept. of Human Physiology and Pharmacology, 1980. / Typescript (photocopy).
2

Zur lehre von der partiellen myotonia congenita ...

Heymann, Adolf, January 1917 (has links)
Inaug.-Diss.--Kiel. / At head of title: Aus der psychiatrischen und nerven-klinik in Kiel. Lebenslauf. "Literatur": p. 19.
3

Screening for mutations in myotonic disease /

Baraceros, Maria Fe B Unknown Date (has links)
Thesis (MAppSc)--University of South Australia, 1996
4

Screening for mutations in myotonic disease /

Baraceros, Maria Fe B Unknown Date (has links)
Thesis (MAppSc)--University of South Australia, 1996
5

Évaluation du recours au test génétique chez les personnes à risque de la dystrophie myotonique au Saguenay-Lac-St-Jean /

Villeneuve, Josée, January 2001 (has links)
Mémoire (M.Méd.Exp.)--Université du Québec à Chicoutimi, 2001. / Document électronique également accessible en format PDF. CaQCU
6

Évaluation de la variabilité génotypique et phénotypique, intrafratrie, dans la dystrophie myotonique de Steinert /

Brisson, Diane. January 1999 (has links)
Thèse (M.Med.Exp.) -- Université Laval, extensionné à l'Université du Québec à Chicoutimi, 1999. / Bibliogr.: f. 68-73. Document électronique également accessible en format PDF. CaQCU
7

Mutagenic and purification studies of the carboxyl tail of ClC-1, the skeletal muscle chloride channel

Simpson, Bronwyn Jayne January 2002 (has links)
ClC-1 is the major skeletal muscle chloride channel and is essential for re-establishing the resting membrane potential of muscle cells after an action potential has occurred. Many mutations throughout the CLCN1 gene, which codes for the CIC-1 protein, have been demonstrated via characterisation in heterologous expression systems, to be causative mutations for either Dominant Myotonia Congenita or Recessive Generalised Myotonia. Recently, increasing numbers of myotonic mutations have been found in the carboxyl tail of CIC-1, which demonstrates its importance as a domain that is essential for the normal function of CIC-1 channels. Previous studies in our laboratory defined a region of 18 amino acids in the immediate post D13 segment of rat CIC-1, essential for the expression of functional channels. / thesis (PhDBiomedicalScience)--University of South Australia, 2002.
8

Mutagenic and purification studies of the carboxyl tail of ClC-1, the skeletal muscle chloride channel /

Simpson, Bronwyn Jayne. Unknown Date (has links)
ClC-1 is the major skeletal muscle chloride channel and is essential for re-establishing the resting membrane potential of muscle cells after an action potential has occurred. Many mutations throughout the CLCN1 gene, which codes for the CIC-1 protein, have been demonstrated via characterisation in heterologous expression systems, to be causative mutations for either Dominant Myotonia Congenita or Recessive Generalised Myotonia. Recently, increasing numbers of myotonic mutations have been found in the carboxyl tail of CIC-1, which demonstrates its importance as a domain that is essential for the normal function of CIC-1 channels. Previous studies in our laboratory defined a region of 18 amino acids in the immediate post D13 segment of rat CIC-1, essential for the expression of functional channels. / Thesis (PhDBiomedicalScience)--University of South Australia, 2002.
9

Mutagenic and purification studies of the carboxyl tail of ClC-1, the skeletal muscle chloride channel

Simpson, Bronwyn Jayne January 2002 (has links)
ClC-1 is the major skeletal muscle chloride channel and is essential for re-establishing the resting membrane potential of muscle cells after an action potential has occurred. Many mutations throughout the CLCN1 gene, which codes for the CIC-1 protein, have been demonstrated via characterisation in heterologous expression systems, to be causative mutations for either Dominant Myotonia Congenita or Recessive Generalised Myotonia. Recently, increasing numbers of myotonic mutations have been found in the carboxyl tail of CIC-1, which demonstrates its importance as a domain that is essential for the normal function of CIC-1 channels. Previous studies in our laboratory defined a region of 18 amino acids in the immediate post D13 segment of rat CIC-1, essential for the expression of functional channels. / thesis (PhDBiomedicalScience)--University of South Australia, 2002.
10

Molecular analysis of myotonic dystrophy type 1 patients with an unusual molecular diagnosis

Braida, Claudia. January 2008 (has links)
Thesis (Ph.D.) - University of Glasgow, 2008. / Ph.D. thesis submitted to the Division of Molecular Genetics, Institute of Biomedical and Life Sciences, University of Glasgow, 2008. Includes bibliographical references. Print version also available.

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