Results 201 to 210 of about 115,047 (267)

Weil's disease: rapid recovery following corticosteroid treatment: a case report. [PDF]

open access: yesRev Inst Med Trop Sao Paulo
Şahin AM, Atçı-Koç İ, Çetin S.
europepmc   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan   +14 more
wiley   +1 more source

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

open access: yesMovement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer   +15 more
wiley   +1 more source

Duodeno-jejunal intussusception: an unusual manifestation of ampullary adenocarcinoma. [PDF]

open access: yesJ Surg Case Rep
Ahmed HA   +10 more
europepmc   +1 more source

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