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Alfons Macaya Selected Research

Lymphangioleiomyomatosis (Lymphangiomyomatosis)

1/2019Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry.
1/2017TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.

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Alfons Macaya Research Topics

Disease

17Tuberous Sclerosis (Bourneville's Disease)
01/2022 - 06/2014
9Migraine Disorders (Migraine)
01/2023 - 05/2009
7Ataxia (Dyssynergia)
12/2022 - 01/2015
7Epilepsy (Aura)
10/2021 - 04/2016
6Neurodevelopmental Disorders
01/2023 - 01/2015
5Seizures (Absence Seizure)
01/2021 - 08/2013
5Rare Diseases (Rare Disease)
01/2021 - 11/2014
5Angiomyolipoma
01/2020 - 04/2016
5Astrocytoma (Pilocytic Astrocytoma)
01/2019 - 04/2016
4Parkinsonian Disorders (Parkinsonism)
01/2023 - 01/2020
4Chorea (Rheumatic Chorea)
11/2022 - 01/2018
4Cerebellar Diseases (Cerebellar Syndrome)
12/2018 - 10/2015
3Atrophy
04/2024 - 01/2015
3Dystonia (Limb Dystonia)
11/2022 - 02/2006
3Migraine with Aura (Familial Hemiplegic Migraine)
02/2018 - 05/2009
3Inborn Genetic Diseases (Disease, Hereditary)
01/2017 - 11/2014
2Movement Disorders (Movement Disorder)
01/2023 - 04/2016
2Paraplegia (Spastic Paraplegia)
12/2022 - 01/2020
2Intellectual Disability (Idiocy)
12/2022 - 01/2019
2Hyperkinesis
11/2022 - 01/2018
2Episodic Ataxia
10/2022 - 01/2017
2Infantile Spasms (West Syndrome)
01/2021 - 03/2019
2Neurologic Manifestations (Neurological Manifestations)
01/2021 - 06/2014
2Neoplasms (Cancer)
01/2021 - 06/2014
2Leukoencephalopathies
01/2020 - 07/2006
2Lymphangioleiomyomatosis (Lymphangiomyomatosis)
01/2019 - 01/2017
2Muscle Hypotonia (Hypotonia)
01/2019 - 01/2019
2Nervous System Diseases (Neurological Disorders)
11/2016 - 01/2015
2Dyskinesias (Dyskinesia)
04/2016 - 01/2012
2Migraine without Aura (Common Migraine)
09/2009 - 05/2009
1Tremor (Tremors)
01/2023
1Microcephaly
12/2022
1Autistic Disorder (Autism)
10/2022
1Male Infertility (Male Sterility)
01/2022
1Myoclonic dystonia
08/2021
1Megalencephaly
01/2021
1Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)
01/2021
1Leigh Disease (Leigh's Disease)
01/2021
1Ischemic Stroke
07/2020
1Pallidopyramidal syndrome
01/2020
1Hereditary Spastic Paraplegia
01/2020
1Frontotemporal Dementia (Semantic Dementia)
01/2020
1Cerebellar Ataxia (Dysmetria)
01/2020
1Hypertension (High Blood Pressure)
01/2020
1Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder)
01/2020
1Huntington Disease (Huntington's Disease)
01/2020
1Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
05/2019
1Muscle Weakness
05/2019
1Headache (Headaches)
01/2019
1Dysarthria (Spastic Dysarthria)
12/2018
1Stroke (Strokes)
02/2018
1Channelopathies
02/2018

Drug/Important Bio-Agent (IBA)

18trans-sodium crocetinate (crocetin)IBA
01/2022 - 06/2014
4Congenital disorder of glycosylation type 1AIBA
12/2018 - 10/2015
4phosphomannomutaseIBA
12/2018 - 10/2015
3EverolimusFDA Link
01/2022 - 04/2016
3voltage-dependent calcium channel (P-Q type)IBA
02/2018 - 01/2015
2Topiramate (Topamax)FDA LinkGeneric
01/2023 - 01/2017
2Levodopa (L Dopa)FDA LinkGeneric
01/2023 - 01/2020
2Valproic Acid (Depakote)FDA LinkGeneric
01/2023 - 01/2017
2SteroidsIBA
01/2021 - 08/2013
2IronIBA
01/2020 - 01/2020
2MTOR InhibitorsIBA
01/2019 - 04/2016
2Calcium Channels (Calcium Channel)IBA
01/2017 - 05/2014
2GTP-Binding Proteins (G-Protein)IBA
04/2016 - 07/2009
2Amino AcidsFDA Link
01/2015 - 07/2009
2Proteins (Proteins, Gene)FDA Link
01/2010 - 05/2009
1Indicators and Reagents (Reagents)IBA
04/2024
1Transfer RNA (tRNA)IBA
01/2023
1Ligases (Synthetase)IBA
01/2023
1Serine-tRNA LigaseIBA
12/2022
1Neurotransmitter Agents (Neurotransmitter)IBA
11/2022
1Dopamine Agents (Dopaminergic Agents)IBA
11/2022
1Facilitative Glucose Transport Proteins (Glucose Transporter)IBA
11/2022
16-pyruvoyltetrahydropterin synthase (PTPS)IBA
11/2022
1Acetazolamide (Diamox)FDA LinkGeneric
10/2022
1Muscarinic Receptors (Muscarinic Acetylcholine Receptor)IBA
10/2021
1Sarcoglycans (beta Sarcoglycan)IBA
08/2021
1Valine (L-Valine)FDA Link
01/2021
1beta-cyclodextrin tetradecasulfate (CTDS)IBA
01/2021
1VigabatrinFDA Link
01/2021
1P-2 (P 2)IBA
01/2021
1Complement System Proteins (Complement)IBA
12/2020
1TOR Serine-Threonine KinasesIBA
01/2020
1Quinidine (Chinidin)FDA LinkGeneric
12/2019
1AMPA Receptors (AMPA Receptor)IBA
12/2019
1Cholinesterase Inhibitors (Anticholinesterases)IBA
05/2019
1gamma-Aminobutyric Acid (GABA)IBA
03/2019
1Aminobutyrates (Aminobutyric Acid)IBA
03/2019
1lipoarabinomannan (LAM)IBA
01/2019
1NucleotidesIBA
01/2019
1Caffeine (No Doz)FDA LinkGeneric
01/2019
1Vesicle-Associated Membrane Protein 2 (VAMP2)IBA
01/2019
1Guanosine Monophosphate (5' Guanylic Acid)IBA
01/2018

Therapy/Procedure

5Therapeutics
11/2022 - 04/2016
2Ketogenic Diet
11/2022 - 04/2016
1Deep Brain Stimulation
11/2022
1Treatment Delay
12/2020
1Thrombectomy
07/2020
1Nutritional Support (Artificial Feeding)
01/2019