Julia Rankin Selected Research

Ceroid

1/2019

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.

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Julia Rankin Research Topics

Disease

3	Neurodevelopmental Disorders 01/2023 - 11/2018
3	Dystonia (Limb Dystonia) 12/2020 - 01/2017
2	Epilepsy (Aura) 01/2023 - 11/2018
2	Intellectual Disability (Idiocy) 01/2019 - 03/2014
2	Weaver syndrome 12/2013 - 12/2011
1	Fatal Familial Insomnia 06/2021
1	Dysphonia (Spastic Dysphonia) 12/2020
1	Parkinsonian Disorders (Parkinsonism) 12/2020
1	Lymphoma (Lymphomas) 08/2020
1	Type V Distal Hereditary Motor Neuronopathy 01/2020
1	Type 2D Charcot-Marie-Tooth disease 01/2020
1	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 01/2019
1	Strabismus (Squint) 01/2019
1	Cortical Blindness (Anton Syndrome) 01/2019
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2019
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2019
1	Plagiocephaly 01/2019
1	Perinatal Death 01/2018
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2018
1	Genomic Instability 02/2017
1	Leukemia 02/2017
1	Craniosynostoses (Craniosynostosis) 08/2014
1	Frontotemporal Dementia (Semantic Dementia) 03/2014
1	Polymicrogyria 02/2013
1	Lissencephaly 02/2013
1	Malformations of Cortical Development 02/2013
1	Stroke (Strokes) 03/2010
1	Cataract (Cataracts) 03/2010
1	Porencephaly 03/2010

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 01/2023 - 02/2017
4	Histone MethyltransferasesIBA 02/2017 - 12/2011
1	Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA 01/2023
1	Prion ProteinsIBA 06/2021
1	Glycine-tRNA LigaseIBA 01/2020
1	AMPA Receptors (AMPA Receptor)IBA 12/2019
1	NAD (NADH)IBA 01/2019
1	MRx102IBA 01/2019
1	Amino Acids FDA Link 01/2019
1	CeroidIBA 01/2019
1	Hydro-Lyases (Dehydratases)IBA 01/2019
1	6-hydroxy-1,4,5,6-tetrahydronicotinamide adenine dinucleotideIBA 01/2019
1	Adenosine Triphosphatases (ATPase)IBA 11/2018
1	CalciumIBA 11/2018
1	DNA (Deoxyribonucleic Acid)IBA 01/2018
1	Lysine (L-Lysine)FDA Link 02/2017
1	Histones (Histone)IBA 02/2017
1	Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA 08/2014
1	DipeptidesIBA 03/2014
1	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 02/2013
1	TubulinIBA 02/2013
1	CollagenIBA 03/2010
1	Retinaldehyde (Retinal)IBA 03/2010

Therapy/Procedure

1	Deep Brain Stimulation 12/2020
1	Gastrostomy 01/2019