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Publications by Giulia Di Rocco

Core-Rod Myopathy Due to a Novel Mutation in BTB/POZ Domain of KBTBD13 Manifesting as Late Onset LGMD

Acta neuropathologica communications

Forensic Medicine

Molecular Neuroscience

English

Development of a Desmocollin-3 Active Mouse Model Recapitulating Human Atypical Pemphigus

Frontiers in Immunology

English

Related publications

Backbone Resonance Assignment of the BCL6-BTB/POZ Domain

Biomolecular NMR Assignments

Structural Biology

English

Novel BTB/POZ Domain Zinc-Finger Protein, LRF, Is a Potential Target of the LAZ-3/BCL-6 Oncogene

Cancer Research

Molecular Biology

English

Juvenile Onset Autoinflammatory Disease Due to a Novel Mutation in TNFAIP3 (A20)

Arthritis Research & Therapy

English

A Novel Mutation of the Arylsulfatase a Gene in Late-Onset Metachromatic Leukodystrophy

Journal of Clinical Psychiatry

English

Slow‐channel Myasthenia Due to Novel Mutation in M2 Domain of AChR Delta Subunit

Annals of Clinical and Translational Neurology

English

A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy

American Journal of Human Genetics

English

GNE Myopathy in Turkish Sisters With a Novel Homozygous Mutation

Case Reports in Neurological Medicine

English

Late Adult-Onset of X-Linked Myopathy With Excessive Autophagy

Muscle and Nerve

Molecular Neuroscience

English

Identification of a Novel Nonsense Mutation in the Rod Domain of GFAP That Is Associated With Alexander Disease

European Journal of Human Genetics

English