Anna C Jansen Selected Research

Polymicrogyria

1/2021	Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations.
10/2020	Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
12/2019	TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
1/2019	Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

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Anna C Jansen Research Topics

Disease

35	Tuberous Sclerosis (Bourneville's Disease) 11/2023 - 11/2014
11	Epilepsy (Aura) 11/2023 - 09/2018
11	Inborn Genetic Diseases (Disease, Hereditary) 01/2023 - 11/2014
7	Seizures (Absence Seizure) 01/2022 - 01/2016
5	Autism Spectrum Disorder 07/2022 - 06/2019
4	Intellectual Disability (Idiocy) 01/2023 - 01/2020
4	Drug Resistant Epilepsy 01/2022 - 01/2016
4	Polymicrogyria 01/2021 - 01/2019
4	Angiomyolipoma 01/2020 - 01/2017
4	Astrocytoma (Pilocytic Astrocytoma) 01/2019 - 01/2017
3	Neoplasms (Cancer) 01/2023 - 01/2018
3	Microcephaly 12/2019 - 12/2018
2	Neurodevelopmental Disorders 01/2022 - 10/2021
2	Autistic Disorder (Autism) 01/2020 - 06/2019
2	Lymphangioleiomyomatosis (Lymphangiomyomatosis) 01/2019 - 01/2017
1	Glycosylphosphatidylinositol deficiency 03/2024
1	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 09/2023
1	Malformations of Cortical Development 01/2023
1	Rheumatic Diseases (Rheumatism) 10/2022
1	Chronic recurrent multifocal osteomyelitis 10/2022
1	NGLY1 deficiency 01/2022
1	Chudley-Mccullough syndrome 01/2021
1	Deafness (Deaf Mutism) 01/2021
1	Neurologic Manifestations (Neurological Manifestations) 01/2021
1	Infantile Spasms (West Syndrome) 01/2021
1	Arachnoid Cysts (Intracranial Arachnoid Cysts) 01/2021
1	Hereditary Spastic Paraplegia 10/2020
1	Cognitive Dysfunction 10/2020
1	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 01/2020
1	Hypertension (High Blood Pressure) 01/2020
1	Brain Diseases (Brain Disorder) 12/2019
1	Nervous System Diseases (Neurological Disorders) 12/2019
1	Renal Cell Carcinoma (Grawitz Tumor) 01/2019
1	Scoliosis 12/2018
1	von Hippel-Lindau Disease (von Hippel Lindau Disease) 01/2018
1	Inflammation (Inflammations) 12/2017
1	Cysts 01/2017
1	Rhabdomyoma 01/2017
1	Angiofibroma 01/2017
1	Wounds and Injuries (Trauma) 12/2016
1	Sudden Infant Death (SID) 12/2016
1	Hemorrhage 12/2016
1	Myotonia 03/2016
1	Paralysis (Palsy) 03/2016
1	Channelopathies 03/2016
1	Brugada Syndrome 03/2016
1	Parkinsonian Disorders (Parkinsonism) 01/2016
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2016
1	Rare Diseases (Rare Disease) 11/2014
1	Benign Neonatal Epilepsy (Benign Familial Neonatal Convulsions) 04/2014
1	Chorea (Rheumatic Chorea) 04/2014

Drug/Important Bio-Agent (IBA)

37	trans-sodium crocetinate (crocetin)IBA 11/2023 - 11/2014
6	Vigabatrin FDA Link 11/2023 - 09/2018
5	Proteins (Proteins, Gene)FDA Link 10/2020 - 12/2018
3	Biomarkers (Surrogate Marker)IBA 11/2023 - 06/2019
3	Everolimus FDA Link 01/2021 - 09/2018
2	Anticonvulsants (Antiepileptic Drugs)IBA 02/2021 - 01/2021
2	TOR Serine-Threonine KinasesIBA 01/2020 - 01/2019
2	MTOR InhibitorsIBA 01/2019 - 11/2018
1	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 03/2024
1	Cerebroside-Sulfatase (Arylsulfatase A)IBA 09/2023
1	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 01/2023
1	CytokinesIBA 10/2022
1	RNA (Ribonucleic Acid)IBA 10/2022
1	MicroRNAs (MicroRNA)IBA 07/2022
1	EnzymesIBA 01/2022
1	Cell Adhesion MoleculesIBA 01/2022
1	OligosaccharidesIBA 01/2022
1	Mechanistic Target of Rapamycin Complex 1IBA 10/2021
1	SteroidsIBA 01/2021
1	GTP-Binding Proteins (G-Protein)IBA 01/2021
1	Adaptor Protein Complex 4IBA 10/2020
1	IronIBA 10/2020
1	Protein Disulfide-IsomerasesIBA 12/2019
1	ThioredoxinsIBA 12/2019
1	SphingolipidsIBA 10/2019
1	lipoarabinomannan (LAM)IBA 01/2019
1	Sirolimus (Rapamycin)FDA Link 11/2018
1	GadoliniumIBA 01/2018
1	LigandsIBA 01/2017
1	Oxygen (Dioxygen)IBA 12/2016
1	Retinaldehyde (Retinal)IBA 12/2016
1	Sodium Channels (Sodium Channel)IBA 03/2016
1	SodiumIBA 03/2016
1	Voltage-Gated Sodium ChannelsIBA 03/2016
1	Messenger RNA (mRNA)IBA 01/2016
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2016
1	human PRRT2 proteinIBA 04/2014

Therapy/Procedure

1	Drug Substitution 02/2021
1	Precision Medicine 02/2021
1	Therapeutics 01/2021
1	Treatment Delay 01/2021
1	Radiofrequency Ablation 01/2019