MEMPHIS, Tenn., March 12, 2026 /PRNewswire/ -- St. Jude Children's Research Hospital today announced the appointment of Carsten Bönnemann, MD, as a faculty member to lead and chair the hospital's ...

Background Guillain-Barré syndrome (GBS) is the most common cause of acute flaccid paralysis worldwide and can be classified into electrophysiological subtypes and clinical variants. Objective This ...

Background Heterozygous variants in SLC12A6 have recently been shown to cause dominant Charcot-Marie-Tooth disease (CMT). We aim to characterise the phenotype of patients with previously reported and ...

Niemann-Pick type C disease (NPC) is a rare autosomal recessive lysosomal storage disorder, most often caused by biallelic pathogenic variants in the NPC1 gene (~95 %). While the central nervous ...

Charcot–Marie–Tooth disease is the most common genetic peripheral neuropathy, with autosomal dominant mutations in Rab7 causing Charcot–Marie–Tooth type 2B disease, which is characterized by the ...

Peripheral neuropathy (PN) is a dose-limiting side effect of chemotherapeutic and antibody drug conjugate (ADC) treatment which significantly impacts patients’ quality of life. Despite a high clinical ...

A new Guillain-Barré syndrome mimic that appeared to be triggered by mild infection emerged in children with biallelic RCC1 variants, a case series showed. One of the first cases was seen in a ...

Describes the nature of a clinical study. Types include: Observational study — observes people and measures outcomes without affecting results. Interventional study (clinical trial) — studies new ...

Charcot-Marie-Tooth disease type 2E (CMT2E) is a slow and progressive neuropathy characterized by axonal dysfunction. Its clinical phenotype includes muscle weakness and atrophy, sensory loss and ...