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

T Voit

Showing results (111-120 of 143) with videos related to

Pageof 15
Sort By:
Biochemical and Biophysical Research Communications|August 17, 2000
Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 geneS M Budde, L P van den Heuvel, A J Janssen, et al.
Neuromuscular Disorders : NMD|February 13, 2001
Autosomal dominant distal myopathy: further evidence of a chromosome 14 locusT Voit, P Kutz, B Leube, et al.
Neuromuscular Disorders : NMD|July 26, 2008
Electron microscopy in myofibrillar myopathies reveals clues to the mutated geneK G Claeys, M Fardeau, R Schröder, et al.
Neurology|April 26, 2001
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain diseaseB Cormand, H Pihko, M Bayés, et al.
Neuropediatrics|August 26, 2004
Congenital muscular dystrophy with short stature, proximal contractures and distal laxityE Mercuri, A Lampe, V Straub, et al.
Developmental Cell|November 16, 2001
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1A Yoshida, K Kobayashi, H Manya, et al.
American Journal of Human Genetics|October 10, 2001
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycanM Brockington, D J Blake, P Prandini, et al.
Neuromuscular Disorders : NMD|December 1, 1996
From adhalinopathies to alpha-sarcoglycanopathies: an overviewM Jeanpierre, A Carrié, F Piccolo, et al.
Neuropediatrics|March 17, 2006
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiencyB Assmann, G Göhlich, M Baethmann, et al.
Magnetic Resonance in Medicine|October 25, 2001
beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urineS H Moolenaar, G Göhlich-Ratmann, U F Engelke, et al.
Pageof 15

Showing results (111-120 of 143) with videos related to

Sort By:
Pageof 15
Biochemical and Biophysical Research Communications|August 17, 2000
Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 geneS M Budde, L P van den Heuvel, A J Janssen, et al.
Neuromuscular Disorders : NMD|February 13, 2001
Autosomal dominant distal myopathy: further evidence of a chromosome 14 locusT Voit, P Kutz, B Leube, et al.
Neuromuscular Disorders : NMD|July 26, 2008
Electron microscopy in myofibrillar myopathies reveals clues to the mutated geneK G Claeys, M Fardeau, R Schröder, et al.
Neurology|April 26, 2001
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain diseaseB Cormand, H Pihko, M Bayés, et al.
Neuropediatrics|August 26, 2004
Congenital muscular dystrophy with short stature, proximal contractures and distal laxityE Mercuri, A Lampe, V Straub, et al.
Developmental Cell|November 16, 2001
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1A Yoshida, K Kobayashi, H Manya, et al.
American Journal of Human Genetics|October 10, 2001
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycanM Brockington, D J Blake, P Prandini, et al.
Neuromuscular Disorders : NMD|December 1, 1996
From adhalinopathies to alpha-sarcoglycanopathies: an overviewM Jeanpierre, A Carrié, F Piccolo, et al.
Neuropediatrics|March 17, 2006
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiencyB Assmann, G Göhlich, M Baethmann, et al.
Magnetic Resonance in Medicine|October 25, 2001
beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urineS H Moolenaar, G Göhlich-Ratmann, U F Engelke, et al.
Pageof 15