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Publications by Yuko Motozaki

Phenotypic Heterogeneity in a Family With FAP Due to a TTR Leu58Arg Mutation: A Clinicopathologic Study

Journal of the Neurological Sciences

English

Related publications

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

European Journal of Human Genetics

English

Marked Intrafamilial Phenotypic Variation in a Family With SOD1 C111Y Mutation

Amyotrophic Lateral Sclerosis

English

Phenotypic Variation of a Thr704Met Mutation in Skeletal Sodium Channel Gene in a Family With Paralysis Periodica Paramyotonica

Journal of Neurology, Neurosurgery and Psychiatry

English

Late-Onset Transthyretin (TTR)-familial Amyloid Polyneuropathy (FAP) With a Long Disease Duration From Non-Endemic Areas in Japan

Internal Medicine

Internal Medicine

English

Phenotypic Heterogeneity: A Bacterial Virulence Strategy

Microbes and Infection

Infectious Diseases

English

Mild Osteochondrodysplasia With Acanthosis Nigricans in a Short-Statured Taiwanese Family Due to the p.Lys650Gln Mutation in FGFR3

Pediatrics and Neonatology

English

Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area

Journal of Neuromuscular Diseases

English

Phenotypic Variability in a Family With Townes–Brocks Syndrome

Journal of Human Genetics

English

A Case of Familial Amyloid Polyneuropathy Due to Phe33Val TTR With Vitreous Involvement as the Initial Manifestation

Internal Medicine

Internal Medicine

English