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

Alice Schindler

Showing results (1-10 of 11) with videos related to

Pageof 2
Sort By:
Journal of Clinical Neuromuscular Disease|November 21, 2022
Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 MutationShin J Oh, Peter H King, Alice Schindler
Journal of Neuromuscular Diseases|October 31, 2022
A Heterozygous Mutation in MFF Associated with a Mild Mitochondrial PhenotypeDaisuke Murata, Christopher Grunseich, Miho Iijima, et al.
Neuromuscular Disorders : NMD|August 22, 2020
Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patientsRanjini Srinivasan, Pomi Yun, Sarah Neuhaus, et al.
Development (Cambridge, England)|December 20, 2002
Functional ablation of the mouse Ldb1 gene results in severe patterning defects during gastrulationMahua Mukhopadhyay, Andreas Teufel, Tsuyoshi Yamashita, et al.
Neuromuscular Disorders : NMD|September 28, 2013
'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasiaSandra Donkervoort, Alice Schindler, Carolina Tesi-Rocha, et al.
Annals of Clinical and Translational Neurology|July 8, 2014
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11Benoît Renvoisé, Jaerak Chang, Rajat Singh, et al.
American Journal of Human Genetics|December 11, 2012
Cowchock syndrome is associated with a mutation in apoptosis-inducing factorCarlo Rinaldi, Christopher Grunseich, Irina F Sevrioukova, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 9, 2021
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseasesChristopher Grunseich, Nathan Sarkar, Joyce Lu, et al.
Neurobiology of Disease|May 21, 2024
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegiaSalimata Diarra, Saikat Ghosh, Lassana Cissé, et al.
Neuromuscular Disorders : NMD|October 14, 2014
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophiesKatherine G Meilleur, Minal S Jain, Linda S Hynan, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Journal of Clinical Neuromuscular Disease|November 21, 2022
Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 MutationShin J Oh, Peter H King, Alice Schindler
Journal of Neuromuscular Diseases|October 31, 2022
A Heterozygous Mutation in MFF Associated with a Mild Mitochondrial PhenotypeDaisuke Murata, Christopher Grunseich, Miho Iijima, et al.
Neuromuscular Disorders : NMD|August 22, 2020
Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patientsRanjini Srinivasan, Pomi Yun, Sarah Neuhaus, et al.
Development (Cambridge, England)|December 20, 2002
Functional ablation of the mouse Ldb1 gene results in severe patterning defects during gastrulationMahua Mukhopadhyay, Andreas Teufel, Tsuyoshi Yamashita, et al.
Neuromuscular Disorders : NMD|September 28, 2013
'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasiaSandra Donkervoort, Alice Schindler, Carolina Tesi-Rocha, et al.
Annals of Clinical and Translational Neurology|July 8, 2014
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11Benoît Renvoisé, Jaerak Chang, Rajat Singh, et al.
American Journal of Human Genetics|December 11, 2012
Cowchock syndrome is associated with a mutation in apoptosis-inducing factorCarlo Rinaldi, Christopher Grunseich, Irina F Sevrioukova, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 9, 2021
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseasesChristopher Grunseich, Nathan Sarkar, Joyce Lu, et al.
Neurobiology of Disease|May 21, 2024
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegiaSalimata Diarra, Saikat Ghosh, Lassana Cissé, et al.
Neuromuscular Disorders : NMD|October 14, 2014
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophiesKatherine G Meilleur, Minal S Jain, Linda S Hynan, et al.
Pageof 2