Mary M Reilly Selected Research

Hereditary Sensory and Autonomic Neuropathies (HSAN)

1/2022	Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 - implications for retinal screening in HSN1.
1/2021	An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions.
1/2018	Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro.
12/2017	A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.
8/2011	KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
4/2010	Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.
2/2006	Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).
8/2003	Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

Mary M Reilly Research Topics

Disease

22	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 10/2022 - 11/2004
11	Peripheral Nervous System Diseases (PNS Diseases) 10/2022 - 03/2010
8	Hereditary Sensory and Autonomic Neuropathies (HSAN) 01/2022 - 08/2003
6	Polyneuropathies (Polyneuropathy) 04/2022 - 01/2016
6	Disease Progression 01/2022 - 06/2014
6	Mitochondrial Diseases (Mitochondrial Disease) 11/2021 - 09/2012
5	Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) 11/2022 - 02/2011
5	Amyloidosis 10/2022 - 02/2015
4	Ataxia (Dyssynergia) 01/2020 - 11/2017
3	Optic Atrophy 01/2019 - 01/2017
3	Brown-Vialetto-Van Laere syndrome 11/2017 - 09/2012
2	Diabetic Neuropathies (Diabetic Neuropathy) 10/2022 - 01/2020
2	Pain (Aches) 01/2022 - 07/2015
2	Type 4C Charcot-Marie-Tooth disease 01/2019 - 03/2010
2	Neuralgia (Stump Neuralgia) 01/2019 - 02/2015
2	Familial Amyloidosis (Hereditary Amyloidosis) 01/2019 - 02/2015
2	Guillain-Barre Syndrome 01/2018 - 07/2013
2	Spastic ataxia Charlevoix-Saguenay type 01/2018 - 01/2013
2	Hereditary Spastic Paraplegia 12/2017 - 01/2011
2	Nervous System Diseases (Neurological Disorders) 12/2017 - 03/2016
2	Neuromuscular Diseases (Neuromuscular Disease) 12/2016 - 01/2016
2	Type 2D Charcot-Marie-Tooth disease 10/2016 - 12/2007
2	Neurodegenerative Diseases (Neurodegenerative Disease) 04/2016 - 02/2015
2	Familial Amyloid Neuropathies (Familial Amyloid Polyneuropathy) 03/2015 - 02/2015
2	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 02/2015 - 02/2015
1	Meningitis 05/2022
1	Transthyretin-Related Hereditary Amyloidosis 01/2022
1	Retinal Diseases 01/2022
1	Telangiectasis (Telangiectasia) 01/2022
1	Chronic Pain 01/2022
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 11/2021
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 03/2021
1	Uniparental Disomy 03/2021
1	Inherited Peripheral Neuropathy 01/2021
1	Paraneoplastic Polyneuropathy 01/2021
1	Type 1C Charcot-Marie-Tooth disease 10/2020
1	Fasciculation (Fasciculations) 10/2020
1	Type 2B Charcot-Marie-Tooth disease 01/2020
1	Congenital Structural Myopathies (Centronuclear Myopathy) 01/2019
1	Proteostasis Deficiencies 01/2019
1	Bilateral Vestibulopathy 01/2019
1	Type 4B1 Charcot-Marie-Tooth disease 01/2019
1	Neurilemmoma (Schwannoma) 01/2019

Drug/Important Bio-Agent (IBA)

16	Proteins (Proteins, Gene)FDA Link 10/2022 - 03/2010
11	Biomarkers (Surrogate Marker)IBA 10/2022 - 06/2014
5	Prealbumin (Transthyretin)IBA 01/2022 - 02/2015
4	Mitochondrial DNA (mtDNA)IBA 11/2021 - 09/2012
4	Immunoglobulin M (IgM)IBA 01/2018 - 06/2003
3	Intravenous Immunoglobulins (IVIG)FDA Link 11/2022 - 01/2018
3	Serine C-PalmitoyltransferaseIBA 01/2021 - 02/2006
3	EnzymesIBA 01/2021 - 01/2018
3	Rituximab (Mabthera)FDA Link 01/2018 - 02/2011
3	Riboflavin (Vitamin B2)FDA LinkGeneric 11/2017 - 09/2012
3	Ascorbic Acid (Vitamin C)FDA LinkGeneric 01/2016 - 04/2011
2	MicroRNAs (MicroRNA)IBA 10/2022 - 01/2021
2	Amyloid (Amyloid Fibrils)IBA 01/2022 - 01/2016
2	Retinaldehyde (Retinal)IBA 01/2022 - 01/2018
2	Pharmaceutical PreparationsIBA 01/2022 - 01/2019
2	patisiranIBA 01/2022 - 01/2021
2	Biological ProductsIBA 03/2021 - 08/2011
2	1-deoxysphingolipidIBA 01/2021 - 01/2019
2	Amino Acids FDA Link 01/2020 - 02/2015
2	GTP Phosphohydrolases (GTPases)IBA 01/2020 - 01/2011
2	Myelin ProteinsIBA 01/2020 - 04/2011
2	Dynamins (Dynamin)IBA 01/2019 - 01/2011
2	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 09/2018 - 10/2016
2	Immunoglobulins (Immunoglobulin)IBA 01/2018 - 03/2016
2	ParaproteinsIBA 01/2018 - 06/2003
2	DNA (Deoxyribonucleic Acid)IBA 04/2017 - 12/2014
2	Small Heat-Shock ProteinsIBA 01/2017 - 06/2012
2	Glycine-tRNA LigaseIBA 10/2016 - 12/2007
2	Myelin P0 Protein (Myelin Protein Zero)IBA 11/2015 - 03/2011
2	Prion ProteinsIBA 02/2015 - 11/2013
2	Gap Junction beta-1 ProteinIBA 03/2011 - 11/2004
1	CytokinesIBA 10/2022
1	Blood Proteins (Serum Proteins)IBA 10/2022
1	Phosphotransferases (Kinase)IBA 05/2022
1	MitogensIBA 05/2022
1	SteroidsIBA 05/2022
1	Immunosuppressive Agents (Immunosuppressants)IBA 04/2022
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 01/2022
1	InotersenIBA 01/2022
1	Serine (L-Serine)FDA Link 01/2022
1	Analgesics (Analgesic Drugs)IBA 01/2022
1	TransferasesIBA 01/2022
1	NAD+ Nucleosidase (NAD(P) Nucleosidase)IBA 11/2021
1	ProteomeIBA 01/2021
1	Creatine Kinase (Creatine Phosphokinase)IBA 10/2020
1	Coenzyme A (CoA)IBA 01/2020
1	PeripherinsIBA 01/2020
1	FructoseIBA 01/2020
1	Sorbitol (Yal)FDA Link 01/2020
1	polyolIBA 01/2020
1	myotubularinIBA 01/2019
1	ClathrinIBA 01/2019
1	PyridoxalIBA 01/2019

Therapy/Procedure

12	Therapeutics 01/2022 - 06/2014
2	Denervation 02/2015 - 05/2013
2	Surgical Amputation (Amputations) 01/2011 - 10/2004
1	Drug Therapy (Chemotherapy) 10/2022