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

Barbara Garavaglia

Showing results (111-120 of 129) with videos related to

Pageof 13
Sort By:
Movement Disorders : Official Journal of the Movement Disorder Society|September 26, 2023
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric StudyAlessio Di Fonzo, Marco Percetti, Edoardo Monfrini, et al.
Journal of Proteome Research|August 23, 2017
Toward the Standardization of Mitochondrial Proteomics: The Italian Mitochondrial Human Proteome Project InitiativeTiziana Alberio, Luisa Pieroni, Maurizio Ronci, et al.
Brain : a Journal of Neurology|December 19, 2018
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic featuresSamuel F Berkovic, Karen L Oliver, Laura Canafoglia, et al.
American Journal of Human Genetics|November 27, 2012
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIATobias B Haack, Penelope Hogarth, Michael C Kruer, et al.
European Journal of Human Genetics : EJHG|December 25, 2014
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseasesMarina Mora, Corrado Angelini, Fabrizia Bignami, et al.
American Journal of Human Genetics|April 9, 2016
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal LesionsNiccolò E Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, et al.
American Journal of Human Genetics|May 19, 2015
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystoniaNiccolo E Mencacci, Ignacio Rubio-Agusti, Anselm Zdebik, et al.
European Journal of Human Genetics : EJHG|June 30, 2018
Primary brain calcification: an international study reporting novel variants and associated phenotypesEliana Marisa Ramos, Miryam Carecchio, Roberta Lemos, et al.
American Journal of Human Genetics|November 8, 2016
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderGali Heimer, Juha M Kerätär, Lisa G Riley, et al.
Journal of Clinical Medicine|May 28, 2019
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature ReviewJessica Garau, Vanessa Cavallera, Marialuisa Valente, et al.
Pageof 13

Showing results (111-120 of 129) with videos related to

Sort By:
Pageof 13
Movement Disorders : Official Journal of the Movement Disorder Society|September 26, 2023
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric StudyAlessio Di Fonzo, Marco Percetti, Edoardo Monfrini, et al.
Journal of Proteome Research|August 23, 2017
Toward the Standardization of Mitochondrial Proteomics: The Italian Mitochondrial Human Proteome Project InitiativeTiziana Alberio, Luisa Pieroni, Maurizio Ronci, et al.
Brain : a Journal of Neurology|December 19, 2018
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic featuresSamuel F Berkovic, Karen L Oliver, Laura Canafoglia, et al.
American Journal of Human Genetics|November 27, 2012
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIATobias B Haack, Penelope Hogarth, Michael C Kruer, et al.
European Journal of Human Genetics : EJHG|December 25, 2014
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseasesMarina Mora, Corrado Angelini, Fabrizia Bignami, et al.
American Journal of Human Genetics|April 9, 2016
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal LesionsNiccolò E Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, et al.
American Journal of Human Genetics|May 19, 2015
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystoniaNiccolo E Mencacci, Ignacio Rubio-Agusti, Anselm Zdebik, et al.
European Journal of Human Genetics : EJHG|June 30, 2018
Primary brain calcification: an international study reporting novel variants and associated phenotypesEliana Marisa Ramos, Miryam Carecchio, Roberta Lemos, et al.
American Journal of Human Genetics|November 8, 2016
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderGali Heimer, Juha M Kerätär, Lisa G Riley, et al.
Journal of Clinical Medicine|May 28, 2019
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature ReviewJessica Garau, Vanessa Cavallera, Marialuisa Valente, et al.
Pageof 13