Stefan Nicolau

12PUBLICATIONS
25CO-AUTHORS
Neurology and neuromuscular diseasesEndocrinologyMedical bacteriologyMedical mycologyAutoimmunity
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Publications (12)

|Sep 11, 2026
TUBA4A Pathogenic Variant Manifesting With Adulthood-Onset Genetic Myasthenic Syndrome, Myopathy, and Infertility.

|May 24, 2026
Optimizing Care for Growth and Puberty in Duchenne Muscular Dystrophy: A Survey of Clinical Practice in the OPTIMIZE DMD Consortium.

|May 01, 2026
Unraveling the spatial landscape of dystrophinopathies: a transcriptomic approach to Becker and Duchenne muscular dystrophies.

|Oct 30, 2024
Immune-Mediated Megaconial Myopathy: A Novel Subtype of Autoimmune Myopathy.

Ashley R Santilli, Oliver Ni, Margherita Milone

|Oct 07, 2021
Immune-mediated necrotizing myopathy: Unusual presentations of a treatable disease.

Stefan Nicolau, Margherita Milone, Jennifer A Tracy

|Jun 16, 2021
Guidelines for genetic testing of muscle and neuromuscular junction disorders.

Stefan Nicolau, Margherita Milone, Teerin Liewluck

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Frequent Collaborators

8 joint publications

Teerin Liewluck

3 joint publications

Margherita Milone

1 joint publications

Ashley R Santilli

1 joint publications

Duygu Selcen