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Publications by Francesca Tagliavini

Aggresomeâ€“Autophagy Involvement in a Sarcopenic Patient With Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene

Frontiers in Aging Neuroscience

Cognitive Neuroscience

English

First TMEM126A Missense Mutation in an Italian Proband With Optic Atrophy and Deafness

Neurology: Genetics

English

Related publications

Phenotypic Heterogeneity in British Patients With a Founder Mutation in the FHL1 Gene

European Journal of Human Genetics

English

Rigid Spine Syndrome

English

Novel Mutation in the AAAS Gene in a Severely Affected Triple-A Syndrome Patient

Endocrinology & Metabolic Syndrome

English

A Novel POLG Gene Mutation in a Patient With SANDO

Journal of Experimental and Integrative Medicine

Alternative Medicine

English

KID Syndrome: Report of a Scandinavian Patient With Connexin‐26 Gene Mutation

Acta Dermato-Venereologica

English

LPIN2 Gene Mutation in a Patient With Overlapping Neutrophilic Disease (Pyoderma Gangrenosum and Aseptic Abscess Syndrome)

JAAD Case Reports

English

Rigid Spine Syndrome: A Clinical Symptom Encompassing Various Aethiologies

Current Trends in Clinical & Medical Imaging

English

Fat Embolism Syndrome With Cerebral Involvement in a Multitrauma Patient

Turkiye Klinikleri Journal of Anesthesiology Reanimation

English

A Novel Mutation of the Ceruloplasmin Gene in a Patient With Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)

Tohoku Journal of Experimental Medicine

Molecular Biology

English