Antonio F Martínez-Monseny Selected Research

Cerebellar Diseases (Cerebellar Syndrome)

5/2021	CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.
1/2019	AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
12/2018	Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.
2/2018	Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.

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Antonio F Martínez-Monseny Research Topics

Disease

4	Cerebellar Diseases (Cerebellar Syndrome) 05/2021 - 02/2018
3	Atrophy 05/2021 - 01/2017
2	Ataxia (Dyssynergia) 12/2018 - 02/2018
1	Blood Platelet Disorders (Thrombocytopathy) 03/2020
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2019
1	Asthenia 01/2019
1	Dysarthria (Spastic Dysarthria) 12/2018
1	Migraine with Aura (Familial Hemiplegic Migraine) 02/2018
1	Channelopathies 02/2018
1	Stroke (Strokes) 02/2018

Drug/Important Bio-Agent (IBA)

5	phosphomannomutaseIBA 01/2019 - 01/2017
4	Congenital disorder of glycosylation type 1AIBA 01/2019 - 01/2017
2	Acetazolamide (Diamox)FDA LinkGeneric 05/2021 - 01/2019
2	voltage-dependent calcium channel (P-Q type)IBA 01/2019 - 02/2018
1	Methylphenidate (Ritalin)FDA LinkGeneric 05/2021
1	Membrane Glycoproteins (Membrane Glycoprotein)IBA 03/2020
1	Bicarbonates (Hydrogen Carbonate)IBA 01/2019