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Publications by Emanuela Terazzi

Evidence of Pre-Synaptic Dopaminergic Deficit in a Patient With a Novel Progranulin Mutation Presenting With Atypical Parkinsonism†

Journal of Alzheimer's Disease

Clinical Psychology

English

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Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease

Cardiovascular Medicine

Specialized Nursing

English

A Novel POLG Gene Mutation in a Patient With SANDO

Journal of Experimental and Integrative Medicine

Alternative Medicine

English

Progranulin Mutation Analysis: Identification of One Novel Mutation in Exon 12 Associated With Frontotemporal Dementia

Neurobiology of Aging

Developmental Biology

English

A Novel BRCA1 Mutation in a Spanish Patient With Ovarian Cancer

Breast Cancer Research and Treatment

Cancer Research

English

99m Tc - TRODAT- 1 SPECT SHOWING DOPAMINERGIC DEFICIENCY IN a PATIENT WITH SPINOCEREBELLAR ATAXIA TYPE 10 AND PARKINSONISM

Movement Disorders Clinical Practice

English

Pulmonary Embolism in a Patient With Factor v Leiden Mutation, Presenting With Symptoms of Asthma Exacerbation

Journal of Allergy and Clinical Immunology

English

A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome

Human Genome Variation

Molecular Biology

English

A Patient WithDNMT1Gene Mutation Presenting With Polyneuropathy, Hearing Loss, and Personality Changes

JAMA Otolaryngology - Head and Neck Surgery

Otorhinolaryngology

English

A Novel Mutation in a Child With Atypical Wiskott-Aldrich Syndrome Complicated by Cytomegalovirus Infection

Turkish Journal of Haematology

English