S. Kapetanovic

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

C. Horlings, R. Carlier, E. Ricci, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Katherine R. Smith, P. Lockhart, D. Zee, 2019, American journal of human genetics.

Thymoma and Autoimmune Encephalitis

K. Kaida, M. Kinoshita, A. Saiz, 2021, Neurology: Neuroimmunology & Neuroinflammation.

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Kristen M. Laricchia, D. MacArthur, M. Lek, 2020, Genetics in Medicine.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Melanie Bahlo, Elsdon Storey, David Valle, 2019, American journal of human genetics.

Neurologic Manifestations in a Prospective Unselected Series of Hospitalized Patients With COVID-19.

Amaia Bilbao González, M. Gomez-Beldarrain, J. García-Moncó, 2020, Neurology. Clinical practice.

Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

J. Clarimón, A. Lleó, P. Pástor, 2013, Human mutation.

Thymoma and Autoimmune Encephalitis Clinical Manifestations and Antibodies

J. Dalmau, K. Kaida, A. Saiz, 2022 .

Validation of new tools to identify expanded repeats: an intronic pentamer expansion in RFC1 causes CANVAS

Melanie Bahlo, Elsdon Storey, David Valle, 2019, bioRxiv.