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Human Molecular Genetics
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January 15, 2017
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans
Katja Lohmann, Ikuo Masuho, Dipak N Patil, et al.
Annals of Clinical and Translational Neurology
|
February 7, 2026
Complementarity of Long-Reads and Optical Mapping in Parkinson's Disease for Structural Variants
André Fienemann, Theresa Lüth, Susen Schaake, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 20, 2010
Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease
Lena Kertelge, Norbert Brüggemann, Alexander Schmidt, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 26, 2009
ATP13A2 variants in early-onset Parkinson's disease patients and controls
Ana Djarmati, Johann Hagenah, Kathrin Reetz, et al.
Sensors (Basel, Switzerland)
|
July 26, 2018
Integrity and Collaboration in Dynamic Sensor Networks
Steffen Schön, Claus Brenner, Hamza Alkhatib, et al.
The Lancet. Neurology
|
April 7, 2009
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study
Ana Djarmati, Susanne A Schneider, Katja Lohmann, et al.
Aging and Disease
|
December 16, 2025
Phosphorylated Ubiquitin as a Clinical Biomarker for Mitochondrial Damage in Neurodegenerative Diseases
Fabienne C Fiesel, Jens O Watzlawik, Michael G Heckman, et al.
Neurogenetics
|
January 16, 2007
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis
Anne Grünewald, Guido J Breedveld, Katja Lohmann-Hedrich, et al.
Brain : a Journal of Neurology
|
April 12, 2026
DRD1-driven infantile dystonia: towards a mechanism-informed framework for GPCR receptoropathies
Gülsüm Kayhan, Ryosuke Tany, Reza Maroofian, et al.
European Journal of Human Genetics : EJHG
|
January 22, 2015
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)
Aloysius Domingo, Ana Westenberger, Lillian V Lee, et al.
Page
of 27
Search research articles
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Showing results (181-190 of 267) with videos related to
Sort By:
Page
of 27
Human Molecular Genetics
|
January 15, 2017
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans
Katja Lohmann, Ikuo Masuho, Dipak N Patil, et al.
Annals of Clinical and Translational Neurology
|
February 7, 2026
Complementarity of Long-Reads and Optical Mapping in Parkinson's Disease for Structural Variants
André Fienemann, Theresa Lüth, Susen Schaake, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 20, 2010
Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease
Lena Kertelge, Norbert Brüggemann, Alexander Schmidt, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 26, 2009
ATP13A2 variants in early-onset Parkinson's disease patients and controls
Ana Djarmati, Johann Hagenah, Kathrin Reetz, et al.
Sensors (Basel, Switzerland)
|
July 26, 2018
Integrity and Collaboration in Dynamic Sensor Networks
Steffen Schön, Claus Brenner, Hamza Alkhatib, et al.
The Lancet. Neurology
|
April 7, 2009
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study
Ana Djarmati, Susanne A Schneider, Katja Lohmann, et al.
Aging and Disease
|
December 16, 2025
Phosphorylated Ubiquitin as a Clinical Biomarker for Mitochondrial Damage in Neurodegenerative Diseases
Fabienne C Fiesel, Jens O Watzlawik, Michael G Heckman, et al.
Neurogenetics
|
January 16, 2007
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis
Anne Grünewald, Guido J Breedveld, Katja Lohmann-Hedrich, et al.
Brain : a Journal of Neurology
|
April 12, 2026
DRD1-driven infantile dystonia: towards a mechanism-informed framework for GPCR receptoropathies
Gülsüm Kayhan, Ryosuke Tany, Reza Maroofian, et al.
European Journal of Human Genetics : EJHG
|
January 22, 2015
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)
Aloysius Domingo, Ana Westenberger, Lillian V Lee, et al.
Page
of 27