Rolph Pfundt Selected Research

Complex Partial Epilepsy (Psychomotor Epilepsy)

1/2019

A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?

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Rolph Pfundt Research Topics

Disease

19	Intellectual Disability (Idiocy) 01/2021 - 03/2009
13	Neurodevelopmental Disorders 10/2022 - 01/2018
8	Neoplasms (Cancer) 01/2020 - 02/2003
4	Autistic Disorder (Autism) 01/2021 - 08/2016
4	Seizures (Absence Seizure) 01/2020 - 05/2007
3	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 01/2021 - 08/2016
3	Ataxia (Dyssynergia) 01/2020 - 05/2007
3	Microcephaly 01/2020 - 05/2007
3	Psoriasis (Pustulosis Palmaris et Plantaris) 12/2005 - 07/2002
2	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2021 - 10/2017
2	Brain Diseases (Brain Disorder) 01/2020 - 04/2015
2	Prostatic Neoplasms (Prostate Cancer) 01/2020 - 07/2005
2	Muscular Dystrophies (Muscular Dystrophy) 12/2017 - 05/2012
2	Walker-Warburg Syndrome 12/2017 - 05/2012
2	Uveal melanoma 06/2015 - 04/2015
1	KBG syndrome 10/2022
1	Hemoglobinopathies 11/2021
1	Bone Fractures (Bone Fracture) 04/2021
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 04/2021
1	Starvation 01/2021
1	Parkinson Disease (Parkinson's Disease) 01/2021
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2021
1	Floating-harbor syndrome 01/2021
1	Schizophrenia (Dementia Praecox) 01/2021
1	Peripheral Nervous System Diseases (PNS Diseases) 01/2020
1	Endometrial Neoplasms (Endometrial Cancer) 01/2020
1	Cerebral Palsy (Spastic Diplegia) 01/2020
1	Nasodigitoacoustic syndrome 01/2019
1	Muscle Hypotonia (Hypotonia) 01/2019
1	Complex Partial Epilepsy (Psychomotor Epilepsy) 01/2019
1	Cognitive Dysfunction 01/2018
1	Spastic ataxia Charlevoix-Saguenay type 01/2018
1	Epilepsy (Aura) 01/2018
1	Overweight 01/2018
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 12/2017
1	Kleefstra Syndrome 10/2017
1	Autism Spectrum Disorder 10/2017
1	Brachydactyly 04/2017
1	Retinal Degeneration 04/2017
1	Craniofacial Abnormalities 04/2017
1	Adducted Thumbs) Syndrome Shuffling Gait Aphasia MASA (Mental Retardation 01/2017
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2017
1	Cysts 12/2016
1	Language Disorders (Language Disorder) 02/2016
1	Microphthalmos 01/2016
1	Bilateral Optic Nerve Hypoplasia 01/2016
1	Coloboma (Colobomas) 01/2016
1	Joint Instability (Joint Laxity) 01/2016
1	Gonadal Dysgenesis (Gonadal Agenesis) 10/2015
1	Monosomy 06/2015

Drug/Important Bio-Agent (IBA)

9	Proteins (Proteins, Gene)FDA Link 10/2022 - 02/2003
8	DNA (Deoxyribonucleic Acid)IBA 01/2019 - 03/2009
6	Transcription Factors (Transcription Factor)IBA 01/2021 - 02/2016
4	ChromatinIBA 12/2019 - 02/2003
2	Kainic Acid Receptors (Kainate Receptor)IBA 11/2021 - 01/2021
2	RNA (Ribonucleic Acid)IBA 01/2021 - 01/2019
2	Histone MethyltransferasesIBA 01/2021 - 10/2017
2	Retinaldehyde (Retinal)IBA 01/2018 - 01/2016
2	Dystroglycans (Dystroglycan)IBA 12/2017 - 05/2012
1	GlobinsIBA 11/2021
1	Single-Stranded DNA (DNA, Single Stranded)IBA 04/2021
1	A-Form DNA (A-DNA)IBA 04/2021
1	Mechanistic Target of Rapamycin Complex 1IBA 01/2021
1	SynucleinsIBA 01/2021
1	MethyltransferasesIBA 01/2021
1	Lysine (L-Lysine)FDA Link 01/2021
1	Histones (Histone)IBA 01/2021
1	RNA-Induced Silencing ComplexIBA 10/2020
1	CateninsIBA 01/2020
1	Cadherins (E-Cadherin)IBA 01/2020
1	asparaginyl-tRNA synthetaseIBA 01/2020
1	Uridine Diphosphate Glucose (UDP Glucose)IBA 01/2020
1	GlypicansIBA 01/2019
1	Histone Acetyltransferases (Histone Acetyltransferase)IBA 01/2019
1	Carrier Proteins (Binding Protein)IBA 01/2019
1	RNA Helicases (RNA Helicase)IBA 01/2019
1	Adenosine Triphosphatases (ATPase)IBA 11/2018
1	Mediator ComplexIBA 05/2018
1	Wiskott-Aldrich Syndrome Protein FamilyIBA 01/2018
1	Glutamine (L-Glutamine)FDA Link 01/2018
1	Valproic Acid (Depakote)FDA LinkGeneric 01/2018
1	Pharmaceutical PreparationsIBA 01/2018
1	N-acetyltryptophanamide (NATA)IBA 01/2018
1	2- amino- 1- methyl- 6- phenylimidazo(4,5- b)pyridineIBA 01/2018
1	Guanosine Triphosphate (GTP)IBA 11/2017
1	Guanosine Diphosphate (GDP)IBA 11/2017
1	EuchromatinIBA 10/2017
1	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 01/2017
1	O-GlcNAc transferaseIBA 01/2017
1	AcetylglucosamineIBA 01/2017
1	NucleotidesIBA 01/2017
1	Amino Acid Transport System X-AG (Glutamate Transporter)IBA 08/2016
1	Co-Repressor ProteinsIBA 01/2016
1	RNA Splicing FactorsIBA 01/2016
1	FSH Receptors (FSH Receptor)IBA 10/2015
1	A-factor (Streptomyces)IBA 06/2015
1	ParaffinIBA 06/2015
1	Formaldehyde (Formol)FDA Link 06/2015

Therapy/Procedure

4	Therapeutics 01/2019 - 05/2007
2	Ligation 06/2015 - 04/2015