Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

P F Chinnery

Showing results (141-150 of 152) with videos related to

Pageof 16
Sort By:
Nature Genetics|July 5, 2001
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia diseaseA R Curtis, C Fey, C M Morris, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 28, 2019
Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like diseaseV Boczonadi, M S King, A C Smith, et al.
Mitochondrion|November 21, 2012
A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disordersR J T Rodenburg, G C Schoonderwoerd, V Tiranti, et al.
Journal of Medical Genetics|November 27, 2009
Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophyA M B Collie, M L Landsverk, E Ruzzo, et al.
Journal of Medical Genetics|March 3, 2009
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and childrenJ D Stewart, S Tennant, H Powell, et al.
Neurology|June 8, 2011
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletionsC Fratter, P Raman, C L Alston, et al.
Neurology|October 12, 2005
Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variationN P Davies, P Imbrici, D Fialho, et al.
Neurology|May 19, 2010
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEOC Fratter, G S Gorman, J D Stewart, et al.
Brain : a Journal of Neurology|February 17, 2010
Multi-system neurological disease is common in patients with OPA1 mutationsP Yu-Wai-Man, P G Griffiths, G S Gorman, et al.
Neurology|December 28, 2006
Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD StudyJ B Wilk, J E Tobin, O Suchowersky, et al.
Pageof 16

Showing results (141-150 of 152) with videos related to

Sort By:
Pageof 16
Nature Genetics|July 5, 2001
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia diseaseA R Curtis, C Fey, C M Morris, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 28, 2019
Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like diseaseV Boczonadi, M S King, A C Smith, et al.
Mitochondrion|November 21, 2012
A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disordersR J T Rodenburg, G C Schoonderwoerd, V Tiranti, et al.
Journal of Medical Genetics|November 27, 2009
Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophyA M B Collie, M L Landsverk, E Ruzzo, et al.
Journal of Medical Genetics|March 3, 2009
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and childrenJ D Stewart, S Tennant, H Powell, et al.
Neurology|June 8, 2011
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletionsC Fratter, P Raman, C L Alston, et al.
Neurology|October 12, 2005
Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variationN P Davies, P Imbrici, D Fialho, et al.
Neurology|May 19, 2010
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEOC Fratter, G S Gorman, J D Stewart, et al.
Brain : a Journal of Neurology|February 17, 2010
Multi-system neurological disease is common in patients with OPA1 mutationsP Yu-Wai-Man, P G Griffiths, G S Gorman, et al.
Neurology|December 28, 2006
Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD StudyJ B Wilk, J E Tobin, O Suchowersky, et al.
Pageof 16