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

Elisa Majounie

Showing results (1-10 of 46) with videos related to

Pageof 5
Sort By:
Parkinsonism & Related Disorders|April 9, 2019
Blepharospasm: A genetic screening study in 132 patientsMonia Hammer, Alexandra Abravanel, Elizabeth Peckham, et al.
Neurobiology of Aging|June 23, 2012
Large C9orf72 repeat expansions are not a common cause of Parkinson's diseaseElisa Majounie, Yevgeniya Abramzon, Alan E Renton, et al.
Journal of Neurology|March 5, 2009
The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based studyMark Wardle, Elisa Majounie, Mustapha B Muzaimi, et al.
Human Genetics|December 17, 2002
Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1Meena Upadhyaya, Elisa Majounie, Peter Thompson, et al.
Journal of Medical Genetics|February 1, 2011
A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlationsSaba Sharif, Meena Upadhyaya, Rosalie Ferner, et al.
Parkinsonism & Related Disorders|June 29, 2016
Juvenile onset Parkinsonism with "pure nigral" degeneration and POLG1 mutationShyamal H Mehta, Dennis W Dickson, John C Morgan, et al.
Neurobiology of Aging|October 5, 2014
Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansionsSonja W Scholz, Elisa Majounie, Tamas Revesz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 4, 2010
Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failureVictoria Newsway, Mark Fish, Jonathan D Rohrer, et al.
Neurobiology of Aging|September 17, 2011
Mutational analysis of the VCP gene in Parkinson's diseaseElisa Majounie, Bryan J Traynor, Adriano Chiò, et al.
Human Mutation|June 21, 2006
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs)Meena Upadhyaya, Gill Spurlock, Elisa Majounie, et al.
Pageof 5

Showing results (1-10 of 46) with videos related to

Sort By:
Pageof 5
Parkinsonism & Related Disorders|April 9, 2019
Blepharospasm: A genetic screening study in 132 patientsMonia Hammer, Alexandra Abravanel, Elizabeth Peckham, et al.
Neurobiology of Aging|June 23, 2012
Large C9orf72 repeat expansions are not a common cause of Parkinson's diseaseElisa Majounie, Yevgeniya Abramzon, Alan E Renton, et al.
Journal of Neurology|March 5, 2009
The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based studyMark Wardle, Elisa Majounie, Mustapha B Muzaimi, et al.
Human Genetics|December 17, 2002
Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1Meena Upadhyaya, Elisa Majounie, Peter Thompson, et al.
Journal of Medical Genetics|February 1, 2011
A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlationsSaba Sharif, Meena Upadhyaya, Rosalie Ferner, et al.
Parkinsonism & Related Disorders|June 29, 2016
Juvenile onset Parkinsonism with "pure nigral" degeneration and POLG1 mutationShyamal H Mehta, Dennis W Dickson, John C Morgan, et al.
Neurobiology of Aging|October 5, 2014
Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansionsSonja W Scholz, Elisa Majounie, Tamas Revesz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 4, 2010
Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failureVictoria Newsway, Mark Fish, Jonathan D Rohrer, et al.
Neurobiology of Aging|September 17, 2011
Mutational analysis of the VCP gene in Parkinson's diseaseElisa Majounie, Bryan J Traynor, Adriano Chiò, et al.
Human Mutation|June 21, 2006
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs)Meena Upadhyaya, Gill Spurlock, Elisa Majounie, et al.
Pageof 5