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Javier Ruiz-Martínez Selected Research

Lysine (L-Lysine)

3/2012Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.

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Javier Ruiz-Martínez Research Topics

Disease

10Parkinson Disease (Parkinson's Disease)
01/2024 - 07/2011
2Disease Progression
01/2024 - 10/2013
2Cognitive Dysfunction
01/2024 - 11/2018
1Ganglion Cysts (Ganglion)
01/2024
1Movement Disorders (Movement Disorder)
01/2024
1Spinocerebellar Ataxias (Spinocerebellar Ataxia)
12/2023
1Dementia (Dementias)
11/2018
1Epilepsy (Aura)
01/2018
1Partial Epilepsies (Epilepsy, Partial)
01/2018
1Inflammation (Inflammations)
10/2017
1Neurodegenerative Diseases (Neurodegenerative Disease)
10/2017
1Neuroinflammatory Diseases
07/2017
1Neoplasms (Cancer)
01/2017
1Poisoning
06/2013
1Dystonia (Limb Dystonia)
03/2012
1Parkinsonian Disorders (Parkinsonism)
10/2011
1Frontotemporal Lobar Degeneration (Degeneration, Frontotemporal Lobar)
05/2008

Drug/Important Bio-Agent (IBA)

6Phosphotransferases (Kinase)IBA
01/2024 - 07/2011
3Biomarkers (Surrogate Marker)IBA
01/2024 - 03/2016
3Leucine (L-Leucine)FDA Link
01/2024 - 01/2015
3SynucleinsIBA
11/2018 - 07/2011
3Proteins (Proteins, Gene)FDA Link
11/2018 - 07/2017
1Retinaldehyde (Retinal)IBA
01/2024
1fibroblast growth factor 14IBA
12/2023
1Phospholipids (Phosphatides)FDA LinkGeneric
04/2023
1Amyloid (Amyloid Fibrils)IBA
11/2018
1LacosamideFDA Link
01/2018
1Anticonvulsants (Antiepileptic Drugs)IBA
01/2018
1Complement System Proteins (Complement)IBA
10/2017
1MicroRNAs (MicroRNA)IBA
01/2017
1Uric Acid (Urate)IBA
10/2013
1MetalsIBA
06/2013
1ZeolitesIBA
06/2013
1Carnitine (L-Carnitine)FDA LinkGeneric
03/2012
1Glutaryl-CoA DehydrogenaseIBA
03/2012
1Lysine (L-Lysine)FDA Link
03/2012
1Fatty Acids (Saturated Fatty Acids)IBA
03/2012
1Sulpiride (neogama)IBA
10/2011
1veraliprideIBA
10/2011
1ProgranulinsIBA
05/2008

Therapy/Procedure

1Therapeutics
01/2018
1Denervation
03/2016