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Dr. Luca Marsili, MD on his way to the Movement disorders genetics clinic on a snowy day in Cincinnati

The work of the Movement disorders genetics clinic UC College of Medicine pubmed.ncbi.nlm.nih.gov/39767580/

Studying Rare Movement Disorders: From WES to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic. The most common clinical phenotypes were #ataxia and parkinsonism Marcelo Kauffman Marcelo Miranda Alberto J Espay Luca Marsili, MD mdpi.com/2227-9059/12/1…

Our own Drs. Luca Marsili, MD and Alberto J Espay join swords with Dr. Matteo Bologna in this review on treatment of motor symptoms in Parkinson’s disease. neurologic.theclinics.com/article/S0733-…

One of our absolute favorite visiting professors, Prof. Marcelo Kauffman on his 10th visit to University of Cincinnati. Diagnosis and causality: from Hippocrates to the human genome project to the future.

It has led to a UC College of Medicine neuro genetics clinic with a comprehensive protocol for the study of rare disorders. Luca Marsili, MD pubmed.ncbi.nlm.nih.gov/39767580/

We have been discussing during my visit at UC Movement disorders with Alberto J Espay and Luca Marsili, MD about the often under-diagnosis and misconceptions about white matter disorders in adult patients. It is frequent to classify this abnormalities as "vascular leukoencephalopathies". The

We are working with Luca Marsili, MD from UC Movement disorders in better characterising CACNA1A mutations in #ataxias. Emerging evidence highlights the critical role of its cousin CACNA1G, the gene encoding the Cav3.1 T-type calcium channel, in a range of neurodevelopmental disorders . This

We always learn from our errors! Clinical reasoning is fundamental to achieve the correct diagnosis, also in rare movement disorders Alberto J Espay Marcelo Kauffman Pasquale Maria Pecoraro neurology.org/doi/10.1212/WN…

Just published in Neurology: "Clinical Reasoning: Juvenile-Onset Dopa-Responsive Dystonia—Until It Isn't" - a fascinating case highlighting diagnostic challenges when initial presentations evolve over time. Our paper demonstrates how complex movement disorders with overlapping

Differentials of L-dopa responsive juvenile onset Dystonia- Parkinsonism # To keep Juvenile form of NIID in this list with L-dopa induced dyskinesia mimicking PRKN #Neurotwitter Alberto J Espay Abhimanyu Mahajan Luca Marsili, MD doi.org/10.1212/WNL.00…

The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population | npj Parkinson's Disease nature.com/articles/s4153…

Our own Dr. Luca Marsili, MD will be chairing the session titled “From Genetics to Targeted Therapy” at the 30th World Congress on Parkinson’s Disease and Related Disorders in New York City. IAPRD UC College of Medicine Alberto J Espay

1/6 Have you thought about what Faces tell us about Neuroscience and what Neuroscience tells us about Faces? Dr. Luca Marsili UC Movement disorders wrote a textbook on this! And he led our Neurohumanities Network Seminar on this topic

Teaching case: Cerebellar ataxia and Hypomyelinating Leukodystrophy in POLR3B variant seen in our neurogenetics clinic. Link: …mentdisorders.onlinelibrary.wiley.com/doi/10.1002/md…