Results 51 to 60 of about 2,498 (170)
American Journal of Ophthalmology Case Reports, 2022 Purpose: To illustrate the potential diagnostic confusion between Batten disease and Stargardt disease created by associated signs and symptoms. Observations: A six-year-old girl with vision loss and prominent behavioral changes and overlooking was ...
Michael C. Brodsky, Arlene Drack
doaj +1 more source
A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8
Brain Pathology, EarlyView.We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren +5 more
wiley +1 more source
Lipofuscinose Ceroide Infantil Precoce--o papel da Ressonância Magnética Nuclear no diagnóstico.
Acta Médica Portuguesa, 2001 The authors report a case of Infantile Neuronal Ceroid Lipofuscinosis and emphasize the role of MRI in the diagnosis and follow-up of the disease describing a severe progressive cerebral atrophy.
A M Reis +4 more
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MRI findings in neuronal ceroid lipofuscinosis
Radiology Case Reports, 2020 Neuronal ceroid lipofuscinosis is a rare cause for developmental delay and seizures that results in neurodegeneration. Presented here is a case of a 5-year-old male who presented for MRI following a delay in achieving developmental milestones and ...
Anna M. Crain +3 more
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Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. [PDF]
PLoS ONE, 2011 Variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), caused by CLN6 mutation, and juvenile neuronal ceroid lipofuscinosis (JNCL), caused by CLN3 mutation, share clinical and pathological features, including lysosomal accumulation of ...
Yi Cao +6 more
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Insights Into Aggregation‐Delayed Phenotype of Dictyostelium discoideum
Cell Biology International, Volume 50, Issue 9, September 2026.ABSTRACT Dictyostelium discoideum is a cellular model that has been widely used in cell signal research focusing on different cellular and developmental processes. The unique lifecycle of these cells—which involves switching between vegetative and development phases—makes Dictyostelium a reliable model for investigations in this field.
Sarah Abdulaziz Alamer
wiley +1 more source
Autosomal dominant adult neuronal ceroid lipofuscinosis [PDF]
, 2011 this thesis investigates a family with autosomal dominant neuronal ceroid lipofuscinosis, with chapters on clinical neurology, neuropathology, neurogenetics, neurophysiology, auditory and visual aspects.UBL - phd migration ...
Nijssen, P.C.G.
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Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.ABSTRACT Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by a deficiency of aspartylglucosaminidase (AGA), a hydrolase involved in the degradation of N‐glycosylated proteins. Currently, no approved therapies are available for AGU. Development of enzyme replacement therapy (ERT) for AGU has been hampered by the complex proteolytic ...
Antje Banning +3 more
wiley +1 more source
Alzheimer's &Dementia, Volume 22, Issue 8, August 2026.Abstract Potential neurodevelopmental effects of genetic frontotemporal degeneration (FTD)‐related variants have been postulated by observational studies over the past 25 years. Recent data from large FTD cohort studies have delineated biological and phenotypic characteristics of presymptomatic stages of disease, with some genetic variants showing ...
Isis So +5 more
wiley +1 more source
The Journal of Clinical Investigation, 2023 Although a disease-modifying therapy for classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) exists, poor understanding of cellular pathophysiology has hampered the development of more effective and persistent therapies.
Keigo Takahashi +10 more
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