Allyn McConkie-Rosell Selected Research

Hereditary Motor And Sensory Neuropathy VI

12/2018

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.

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Allyn McConkie-Rosell Research Topics

Disease

4	Intellectual Disability (Idiocy) 10/2019 - 12/2012
2	Neurodevelopmental Disorders 01/2023 - 10/2019
1	Epilepsy (Aura) 01/2023
1	Hypersensitivity (Allergy) 01/2022
1	Dyskeratosis Congenita (X-Linked Dyskeratosis Congenita) 01/2022
1	Undiagnosed Diseases 01/2021
1	Cognitive Dysfunction 01/2021
1	Ataxia (Dyssynergia) 01/2021
1	Brain Diseases (Brain Disorder) 01/2021
1	Deafness (Deaf Mutism) 01/2021
1	Kleefstra Syndrome 01/2020
1	Agenesis of Corpus Callosum 10/2019
1	Hereditary Motor And Sensory Neuropathy VI 12/2018
1	Autistic Disorder (Autism) 01/2018
1	Autism Spectrum Disorder 01/2018
1	Congenital Heart Defects (Congenital Heart Defect) 01/2018
1	Microcephaly 01/2016
1	Persistent Fetal Circulation Syndrome 06/2013
1	Alveolar capillary dysplasia 06/2013
1	Fragile X Syndrome (Martin Bell Syndrome) 12/2012

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 01/2023 - 01/2018
2	DNA (Deoxyribonucleic Acid)IBA 06/2013 - 12/2012
1	Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA 01/2023
1	triphosphoric acid (triphosphate)IBA 01/2022
1	DeoxyribonucleotidesIBA 01/2022
1	Fluorouracil (Carac)FDA LinkGeneric 01/2022
1	NucleotidesIBA 01/2022
1	Thymidylate SynthaseIBA 01/2022
1	Apoptosis Inducing FactorIBA 01/2021
1	Protein Isoforms (Isoforms)IBA 01/2020
1	Cadherins (E-Cadherin)IBA 10/2019
1	Oxidoreductases (Dehydrogenase)IBA 12/2018
1	Ferredoxins (Ferredoxin)IBA 12/2018
1	FlavoproteinsIBA 12/2018
1	Histones (Histone)IBA 01/2018
1	PhosphoproteinsIBA 01/2016

Therapy/Procedure

1	Genomic Medicine 01/2021