Results 121 to 130 of about 1,294 (180)

Familial Annular Erythema Effectively Responded to Phototherapy: A Case Report of an Extremely Rare Entity and Literature Review. [PDF]

Case Rep Dermatol
Alhawsawi W, Nukaly H, Jfri A, Al-Luhaibi RS, Aljarallah A, Fageeh SM, Al Hawsawi K.   +6 more
europepmc   +1 more source

Spinocerebellar Ataxia 27 A with Episodic Ataxia: Case Series of Fibroblast Growth Factor 14 (FGF14) Microdeletions. [PDF]

Cerebellum
Conci E, Kelly TL, Armstrong R, Harijan P, Horvath R.   +4 more
europepmc   +1 more source

Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the <i>KCNJ2</i> Gene-A New Family Case Report. [PDF]

Biomolecules
Onore ME, Picillo E, D'Ambrosio P, Morra S, Nigro V, Politano L.   +5 more
europepmc   +1 more source

Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants. [PDF]

J Hum Genet
Kubota T, Nagata M, Takagi K, Ishihara Y, Kojima K, Uchikura Y, Yamamoto R, Yonei A, Ozaki E, Kira N, Takahashi S, Homma K, Miyashita Y, Eguchi-Ishimae M, Sakai N, Asano Y, Sakata Y, Ozono K, Eguchi M, Takahashi MP.   +19 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

Some of the next articles are maybe not open access.

Related searches:

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.
David Chitayat
exaly   +3 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
exaly   +3 more sources

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