A5045530610- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- RNA regulation and disease
- Neuroinflammation and Neurodegeneration Mechanisms
- Mitochondrial Function and Pathology
- Amyotrophic Lateral Sclerosis Research
- Genetic Neurodegenerative Diseases
- Neurological diseases and metabolism
- Genetics and Neurodevelopmental Disorders
- Botulinum Toxin and Related Neurological Disorders
- Nuclear Receptors and Signaling
- Long-Term Effects of COVID-19
- Restless Legs Syndrome Research
- interferon and immune responses
- Metabolism and Genetic Disorders
- Neurogenetic and Muscular Disorders Research
- Voice and Speech Disorders
- Genomics and Rare Diseases
- Autism Spectrum Disorder Research
- Glycosylation and Glycoproteins Research
- RNA modifications and cancer
- Transcranial Magnetic Stimulation Studies
- Parkinson's Disease and Spinal Disorders
- DNA Repair Mechanisms
- Advanced Nanomaterials in Catalysis
Gdańsk Medical University
2019-2025
Copernicus Memorial Hospital
2015-2025
Mayo Clinic in Florida
2022-2025
WinnMed
2022-2025
Jacksonville College
2022-2025
Mayo Clinic
2024
Wojewódzki Szpital Specjalistyczny Nr 2
2020-2023
Nemours Children’s Clinic
2022
Mutations in the CSF1R gene are most common cause of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a neurodegenerative disease rapid progression ominous prognosis. Hematopoietic stem cell transplantation (HSCT) has been increasingly offered to patients CSF1R-ALSP. However, different therapy results were observed, it was not elucidated which patient should be referred for HSCT. This study aimed determine predictors good bad HSCT outcomes We retrospectively...
Abstract Background There is an unmet need for the treatment of colony‐stimulating factor‐1 receptor ( CSF1R )‐related leukoencephalopathy. Objectives To evaluate association glucocorticoids (GCs) with disease onset and progression in variant carriers. Methods Retrospective cohort study on variants carriers (n = 41) whose medical records were collected at Mayo Clinic Florida from 2003 to 2023. We retrieved information sex, ethnicity, family history, medications, onset, course duration,...
Abstract Background Perry syndrome (PS) is a rare and fatal hereditary autosomal dominant neurodegenerative disorder caused by mutations in dynactin ( DCTN1 ). PS brains accumulate inclusions positive for ubiquitin, transactive‐response DNA‐binding protein of 43 kDa (TDP‐43), to lesser extent dynactin. Objectives Little known regarding the contributions TDP‐43, an RNA binding that represses cryptic exon inclusion, PS. Therefore, we sought identify degree TDP‐43 dysfunction two regions...
To highlight the worldwide presence of
To validate a recently published study in which skin biopsy was reported as valuable alternative to brain diagnosing
Abstract The clinical presentation of Parkinson's Disease (PD) encompasses a wide spectrum non-motor symptoms, among which sleep disruption is one the most common and occurs in virtually all patients with PD. Sleep disorders are complex including insomnia, restless legs syndrome, periodic limb movements sleep, rapid eye movement behavior disorder (RBD), fragmentation excessive daytime sleepiness. disturbances independent important determinant poor quality life, influence daily living can be...