Research
Research lines
Multimodal characterization, disease mechanisms and biomarkers in motor neuron disease.
By means of different tools we intend to advance in the epidemiological, clinical and genetic characterization of the disease in our country. Additionally, we are interested in understanding the pathological and adaptive cortical changes that occur in Motor Neuron Disease, in order to identify disease mechanisms and new biomarkers. Finally, we are interested in characterizing and validating new molecular (e.g. neurofilaments) and neurophysiological (e.g. MUNE) biomarkers. We hope that all these efforts will allow us to have better diagnostic tools and future treatments for the disease.
Neuromuscular diseases in Chile: multilevel characterization.
Using different clinical, imaging and neurophysiological strategies we are interested in characterizing in depth some neuromuscular diseases in our country. We are currently studying patients with amyloidosis and paraprotein associated neuropathy and immune-mediated inflammatory myopathies.
Cortical dysfunction in sleep apnea-hypopnea syndrome (OSAHS).
Using different neurophysiological approaches we are interested in understanding the changes in the central nervous system secondary to intermittent hypoxia in OSAS patients.
Neurophysiological markers of cholinergic dysfunction in pre-symptomatic autosomal dominant Alzheimer ́s disease.
Using different neurophysiological and imaging strategies we aim to characterise brain cholinergic functioning in pre-symptomatic stages of genetic Alzheminer's disease.
Active research proyects
- Uncovering the neuroplastic reserve in amyotrophic lateral sclerosis
- Extra-motor hyperexcitability and cognitive dysfunction in amyotrophic lateral sclerosis
- Reproducibility and sensitivity of a novel MUNE method, MScanFit MUNE in showing motor unit loss in motor neuron
- disorders - an international multicentre study
- Neurophysiology Index (NI) as an electrophysiological biomarker in ALS: a multicentre study
- Chilean national registry for motoneuron disease
- Transthyretin Amyloid Polyneuropathy (ATTR-PN) in a mestizo Latin-American population: an epidemiological prospective study
- Effect of continuous positive airway pressure (CPAP) in cortical excitability and cognitive performance in patients with Obstructive sleep apnea
- Neurophysiological markers of cholinergic dysfunction in pre-symptomatic autosomal dominant Alzheimer ́s disease
Founding
- Uncovering the neuroplastic reserve in amyotrophic lateral sclerosis".
FONDECYT REGULAR N° 1201225, 2020 – 2024. PI José Manuel Matamala. - Neurophysiological markers of cholinergic dysfunction in pre-symptomatic autosomal dominant Alzheimer ́s disease".
FONDECYT DE INICIACIÓN N° 11231023, 2023 – 2026. PI Daniel Jimenez. - Transthyretin Amyloid Polyneuropathy (ATTR-PN) in a mestizo Latin-American population: an epidemiological prospective study".
INVESTIGATOR INITIATED Study (IIS). PTC therapeutics. 2022 – 2024. PI Ignacio Acosta. Senior PI José Manuel Matamala.