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Ingrid Goebel

Showing results (11-20 of 22) with videos related to

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Genomics|May 6, 2008
Replication study of the insulin receptor gene in migraine with auraChristian Netzer, Jan Freudenberg, Axel Heinze, et al.
Audiology & Neuro-Otology|June 12, 2017
AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant InheritanceRuth Lang-Roth, Eva Fischer-Krall, Cornelia Kornblum, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 8, 2007
Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with auraChristian Netzer, Jan Freudenberg, Mohammad R Toliat, et al.
Human Mutation|August 20, 2005
Rare missense variants in ATP1A2 in families with clustering of common forms of migraineUnda Todt, Martin Dichgans, Karin Jurkat-Rott, et al.
Journal of Medicinal Chemistry|September 23, 2024
Use of the Novel Site-Directed Enzyme Enhancement Therapy (SEE-Tx) Drug Discovery Platform to Identify Pharmacological Chaperones for Glutaric Acidemia Type 1Madalena Barroso, Alexandra Puchwein-Schwepcke, Lars Buettner, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|January 12, 2016
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegiaShakeela Daud, Naseebullah Kakar, Ingrid Goebel, et al.
Neurobiology of Aging|September 13, 2015
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patientsAnnemarie Hübers, Walter Just, Angela Rosenbohm, et al.
Nature Genetics|September 12, 2006
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPaseAlfredo Ramirez, André Heimbach, Jan Gründemann, et al.
The Journal of Clinical Investigation|August 29, 2017
Dysfunction of the MDM2/p53 axis is linked to premature agingDavor Lessel, Danyi Wu, Carlos Trujillo, et al.
American Journal of Human Genetics|May 21, 2026
Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assemblyRobin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Genomics|May 6, 2008
Replication study of the insulin receptor gene in migraine with auraChristian Netzer, Jan Freudenberg, Axel Heinze, et al.
Audiology & Neuro-Otology|June 12, 2017
AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant InheritanceRuth Lang-Roth, Eva Fischer-Krall, Cornelia Kornblum, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 8, 2007
Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with auraChristian Netzer, Jan Freudenberg, Mohammad R Toliat, et al.
Human Mutation|August 20, 2005
Rare missense variants in ATP1A2 in families with clustering of common forms of migraineUnda Todt, Martin Dichgans, Karin Jurkat-Rott, et al.
Journal of Medicinal Chemistry|September 23, 2024
Use of the Novel Site-Directed Enzyme Enhancement Therapy (SEE-Tx) Drug Discovery Platform to Identify Pharmacological Chaperones for Glutaric Acidemia Type 1Madalena Barroso, Alexandra Puchwein-Schwepcke, Lars Buettner, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|January 12, 2016
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegiaShakeela Daud, Naseebullah Kakar, Ingrid Goebel, et al.
Neurobiology of Aging|September 13, 2015
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patientsAnnemarie Hübers, Walter Just, Angela Rosenbohm, et al.
Nature Genetics|September 12, 2006
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPaseAlfredo Ramirez, André Heimbach, Jan Gründemann, et al.
The Journal of Clinical Investigation|August 29, 2017
Dysfunction of the MDM2/p53 axis is linked to premature agingDavor Lessel, Danyi Wu, Carlos Trujillo, et al.
American Journal of Human Genetics|May 21, 2026
Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assemblyRobin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.
Pageof 3