Hereditary Sensory and Autonomic Neuropathy Type 2 Latest Advances

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Published: May 04, 2025

Altered Pain Perception in a Young Adult with Childhood Trauma and Suspected Riley-Day Syndrome: A Case Report.

Journal: Reports (MDPI)

Published: April 29, 2025

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Peripheral neuron phenotypes of familial dysautonomia are rescued by AAV-mediated gene therapy.

Peripheral neuron phenotypes of familial dysautonomia are rescued by AAV-mediated gene therapy.

AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in a mouse model of familial dysautonomia.

AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in a mouse model of familial dysautonomia.

Hajdu-Cheney Syndrome with Fatal Progressive Basilar Invagination: Illustrative Case.

Hajdu-Cheney Syndrome with Fatal Progressive Basilar Invagination: Illustrative Case.

Congenital insensitivity to pain with anhidrosis.

Congenital insensitivity to pain with anhidrosis.

Congenital Insensitivity to Pain Syndrome With Hidrosis in a 17-Year-Old Female.

Congenital Insensitivity to Pain Syndrome With Hidrosis in a 17-Year-Old Female.

Improved Outcomes in Congenital Insensitivity to Pain with Anhidrosis (CIPA) via a Multidisciplinary Clinic Model.

Improved Outcomes in Congenital Insensitivity to Pain with Anhidrosis (CIPA) via a Multidisciplinary Clinic Model.

Advances in the treatment of familial dysautonomia: what does the future hold?

Advances in the treatment of familial dysautonomia: what does the future hold?

Familial Hypercholesterolemia Mimicking Rheumatoid Arthritis: A Rare Case From Pakistan.

Familial Hypercholesterolemia Mimicking Rheumatoid Arthritis: A Rare Case From Pakistan.

Ocular Manifestations in Congenital Insensitivity to Pain with Anhidrosis: A Window into a Rare Syndrome.

Ocular Manifestations in Congenital Insensitivity to Pain with Anhidrosis: A Window into a Rare Syndrome.

Periodontal Manifestations of Systemic Diseases.

Periodontal Manifestations of Systemic Diseases.

Temporal Bone Osseous Dysplasia With Conductive Hearing Loss in Hajdu-Cheney Syndrome.

Temporal Bone Osseous Dysplasia With Conductive Hearing Loss in Hajdu-Cheney Syndrome.

Altered Pain Perception in a Young Adult with Childhood Trauma and Suspected Riley-Day Syndrome: A Case Report.

Altered Pain Perception in a Young Adult with Childhood Trauma and Suspected Riley-Day Syndrome: A Case Report.