Results 121 to 130 of about 1,313 (165)

Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods. [PDF]

Pediatr Res
Kulsirichawaroj P, Chanvanichtrakool M, Wattanadilokchatkun P, Pho-Iam T, Limwongse C, Likasitwattanakul S, Boonyapisit K, Sanmaneechai O, Nishino I, Shotelersuk V, Han J, Zuchner S.   +11 more
europepmc   +1 more source

Arginine, creatine and creatinine loading studies in myotonia dystrophica [PDF]

, 1967
Hoesing, John Joseph
core   +1 more source

Periodic paralysis. [PDF]

Handb Clin Neurol
Cannon SC.
europepmc   +1 more source

Investigating the effect of Ranolazine drug on the pathophysiology of asthma in a rat model. [PDF]

BMC Res Notes
Sadeghi M, Shahrooz S, Aghamohammadi M, Khodabandeloo H, Amiri-Dashatan N, Koushki M, Athari SS.   +6 more
europepmc   +1 more source

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes. [PDF]

Genome Biol
Brünger T, Ivaniuk A, Pérez-Palma E, Montanucci L, Cohen S, Smith L, Parthasarathy S, Helbig I, Nothnagel M, May P, Lal D.   +10 more
europepmc   +1 more source

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Paramyotonia congenita (Eulenburg)

Zeitschrift f�r Neurologie, 1972
The case of a 71 years old male patient with paramyotonia congenita is described. There was no occurence of spontaneous paresis at room temperature. Lowering the temperature, a loss of muscle power became perceivable in the mechanogram while, at the beginning there was only a slight depression in amplitude of the evoked action potential.
K, Ricker, H M, Meinck
openaire   +2 more sources

Membrane defects in paramyotonia congenita (eulenburg)

Muscle & Nerve, 1987
AbstractMembrane potentials, current‐voltage relationships, and component conductances were determined in resting excised external intercostal muscle fibers from five patients with paramyotonia congenita. At 37°C all investigated parameters were normal. At 27°C the resting potentials decreased to about −40 mV, and the fibers were inexcitable.
F, Lehmann-Horn, R, Rüdel, K, Ricker
openaire   +2 more sources

Cold-induced abortion in paramyotonia congenita

American Journal of Obstetrics and Gynecology, 1988
Paramyotonia congenita is a rare autosomal dominant disorder with complete penetrance. Its most typical clinical feature is the precipitation of active myotonia by exposure to cold. We report a case of cold-induced abortion in a woman with paramyotonia congenita.
D, Chitayat, M, Etchell, R D, Wilson
openaire   +2 more sources

Paramyotonia congenita (von Eulenburg) in Denmark

Acta Neurologica Scandinavica, 2009
Paramyotonia congenita (von Eulenburg) (PMC) is described in a Danish family in seven generations and 39 persons. PMC has not previously been described in Denmark and an epidemiological description of the family is given. The diagnostic difficulties versus hyperkalemic familial periodic paralysis with myotonia, adynamia episodica hereditaria and ...
T, Johnsen, M L, Friis
openaire   +2 more sources