Results 101 to 110 of about 124,321 (238)
Phosphomannomutase deficiency (PMM2-CDG): Ataxia and cerebellar assessment [PDF]
, 2015 Background: Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is ...
Artuch, R. +23 more
core +3 more sources
IJU Case Reports, Volume 9, Issue 1, January 2026.ABSTRACT Introduction Multiple cranial neuropathy is a rare manifestation of immune‐related adverse events. To date, no cases have been reported during immune checkpoint blockade for metastatic renal cell carcinoma. This report describes a case of multiple cranial neuropathy that developed during lenvatinib and pembrolizumab combination therapy.
Hideyuki Minagawa +9 more
wiley +1 more source
From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza +3 more
wiley +1 more source
Neurological examination in small animals [PDF]
, 2014 This clinical review about the neurological examination in small animals describes the basics about the first steps of investigation when dealing with neurological patients.
Garosi, Garosi, Lahunta
core +1 more source
Promising Results With NAD Supplementation in Rare Diseases With Premature Aging and DNA Damage
Aging Cell, Volume 25, Issue 1, January 2026.Increased DNA damage leads to increased parylation, causing mitochondrial dysfunction. This happens when DNA repair is defective, for example in known diseases and DNA repair capacity varies between individuals, some being at higher risk for hyperparylation.
Vilhelm A. Bohr
wiley +1 more source
European Journal of Neurology, Volume 33, Issue 1, January 2026.Neurological infections caused by Borrelia burgdorferi sensu lato and Borrelia miyamotoi are increasingly reported in patients receiving anti‐CD20 therapies and should be considered in cases presenting with neurological symptoms and cerebrospinal fluid pleocytosis.
Emilie Cardot‐Martin +7 more
wiley +1 more source
STRUCTURE OF CONGENITAL AND HEREDITARY EYE DISEASES IN CHILDREN AND MEASURES OF ITS PREVENTION
Ukrainian Scientific Medical Youth Journal, 2016 Hereditary and congenital eye disease compose 60% to 90% of all causes of disability due to reduced visual acuity in children. The treatment is ineffective and prevention methods requires significant improvement. The purpose of the study was to determine
A. Savina, O. Vitovska
doaj
Veterinary Ophthalmology, Volume 29, Issue 1, January 2026.ABSTRACT Purpose To determine normal ophthalmic test values and to describe the ocular morphology of ring‐necked parakeets (Psittacula krameri). Materials and Methods 33 captive birds were examined, although not all tests were conducted on each bird.
Fernanda Taques Wendt +7 more
wiley +1 more source
Cerebellar Atrophy in Congenital Fibrosis of the Extraocular Muscles Type 1 [PDF]
, 2012 We described a family with a molecularly confirmed form of CFEOM1 and a late-onset cerebellar syndrome. Brain MRI showed vermis atrophy in two older family members, who also manifested gait impairment, whereas both neurological examination and ...
Alessandra Tessa +8 more
core +1 more source