Showing results (161-170 of 180) with videos related to
Sort By:
Pageof 18
Neurology|June 27, 2002
Clinicopathological features of genetically confirmed Danon diseaseK Sugie, A Yamamoto, K Murayama, et al.Journal of Medical Genetics|September 27, 2005
ETHE1 mutations are specific to ethylmalonic encephalopathyV Tiranti, E Briem, E Lamantea, et al.European Journal of Human Genetics : EJHG|March 27, 1999
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) geneK Verhoeven, R J Ensink, V Tiranti, et al.The Journal of Pediatrics|August 4, 1999
The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathyC Bruno, D M Kirby, Y Koga, et al.Journal of the Neurological Sciences|October 13, 2010
New molecular findings in congenital myopathies due to selenoprotein N gene mutationsR Cagliani, M E Fruguglietti, A Berardinelli, et al.American Journal of Human Genetics|December 5, 1998
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiencyV Tiranti, K Hoertnagel, R Carrozzo, et al.European Journal of Neurology|March 20, 2010
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementiasJ-M Burgunder, J Finsterer, Z Szolnoki, et al.Journal of Neurology|July 14, 2021
Adult-onset mitochondrial movement disorders: a national picture from the Italian NetworkV Montano, D Orsucci, V Carelli, et al.Biochimica Et Biophysica Acta. Molecular Basis of Disease|March 31, 2018
SURF1 knockout cloned pigs: Early onset of a severe lethal phenotypeC Quadalti, D Brunetti, I Lagutina, et al.European Journal of Neurology|May 28, 2009
EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystoniasH F Harbo, J Finsterer, J Baets, et al.Pageof 18