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Publications by Matilde Laurá

Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

Journal of Biological Chemistry

Molecular Biology

English

Related publications

Hereditary Sensory Neuropathy Type I

Orphanet Journal of Rare Diseases

English

Dermal Melanocyte Hamartoma and Hereditary Motor and Sensory Neuropathy Type 2A

Acta Dermato-Venereologica

English

N-Myc Downstream-Regulated Gene 1 Is Mutated in Hereditary Motor and Sensory Neuropathy-Lom

Journal of the Peripheral Nervous System

English

A Model of Hereditary Sensory and Autonomic Neuropathy Type 1 Reveals a Role of Glycosphingolipids in Neuronal Polarity

Journal of Neuroscience

English

Hereditary Sensory Neuropathy Type 1 Mutations Confer Dominant Negative Effects on Serine Palmitoyltransferase, Critical for Sphingolipid Synthesis

Journal of Clinical Investigation

English

Autosomal Recessive Forms of Hereditary Motor and Sensory Neuropathy.

Journal of Neurology, Neurosurgery and Psychiatry

English

Diaphragmatic Weakness in Hereditary Motor and Sensory Neuropathy.

Journal of Neurology, Neurosurgery and Psychiatry

English

A Novel Homozygous Mutation in the WNK1/HSN2 Gene Causing Hereditary Sensory Neuropathy Type 2.

Acta Biochimica Polonica

Molecular Biology

English

Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused by NKX2-1 Mutations

Movement Disorders Clinical Practice

English