Polyglutamine (PolyQ) Diseases: Navigating the Landscape of Neurodegeneration
Polyglutamine (polyQ) diseases are a group of inherited neurodegenerative disorders
caused by expanded cytosine-adenine-guanine (CAG) repeats encoding proteins with …
caused by expanded cytosine-adenine-guanine (CAG) repeats encoding proteins with …
Current and emerging treatment modalities for spinocerebellar ataxias
SD Ghanekar, SH Kuo, JS Staffetti… - Expert review of …, 2022 - Taylor & Francis
Introduction Spinocerebellar ataxias (SCA) are a group of rare neurodegenerative diseases
that dramatically affect the lives of affected individuals and their families. Despite having a …
that dramatically affect the lives of affected individuals and their families. Despite having a …
Is pseudoexfoliation glaucoma a neurodegenerative disorder?
Pseudoexfoliation (PEX) is a systemic age-related progressive disorder with ocular
manifestations. The earlier stage of the disease, pseudoexfoliation syndrome (PEXS) …
manifestations. The earlier stage of the disease, pseudoexfoliation syndrome (PEXS) …
Metalloproteins and neuronal death
DR Brown - Metallomics, 2010 - academic.oup.com
Neurodegenerative diseases include Alzheimer's and Parkinson's disease that are very
common and other diseases that are notorious but occur less often such as Creutzfeldt …
common and other diseases that are notorious but occur less often such as Creutzfeldt …
Ataxias with autosomal, X-chromosomal or maternal inheritance
J Finsterer - Canadian journal of neurological sciences, 2009 - cambridge.org
Heredoataxias are a group of genetic disorders with a cerebellar syndrome as the leading
clinical manifestation. The current classification distinguishes heredoataxias according to …
clinical manifestation. The current classification distinguishes heredoataxias according to …
Hereditary Ataxias: From Bench to Clinic, Where Do We Stand?
F Pilotto, A Del Bondio, H Puccio - Cells, 2024 - mdpi.com
Cerebellar ataxias are a wide heterogeneous group of movement disorders. Within this
broad umbrella of diseases, there are both genetics and sporadic forms. The clinical …
broad umbrella of diseases, there are both genetics and sporadic forms. The clinical …
Autosomal dominant spinocerebellar ataxias and episodic ataxias
F Taroni, L Chiapparini, C Mariotti - Handbook of the cerebellum and …, 2021 - Springer
Hereditary autosomal dominant spinocerebellar ataxias (ADCAs) are a clinically and
genetically heterogeneous group of disorders consisting of 31 spinocerebellar ataxia …
genetically heterogeneous group of disorders consisting of 31 spinocerebellar ataxia …
Reviewing the Structure–Function Paradigm in Polyglutamine Disorders: A Synergistic Perspective on Theoretical and Experimental Approaches
NS Moldovean-Cioroianu - International Journal of Molecular Sciences, 2024 - mdpi.com
Polyglutamine (polyQ) disorders are a group of neurodegenerative diseases characterized
by the excessive expansion of CAG (cytosine, adenine, guanine) repeats within host …
by the excessive expansion of CAG (cytosine, adenine, guanine) repeats within host …
Is pseudoexfoliation glaucoma a neurodegenerative disorder?
P Biswajit, AD Pankaj - Journal of Biosciences, 2021 - search.proquest.com
Pseudoexfoliation (PEX) is a systemic age-related progressive disorder with ocular
manifestations. The earlier stage of the disease, pseudoexfoliation syndrome (PEXS) …
manifestations. The earlier stage of the disease, pseudoexfoliation syndrome (PEXS) …
Identification of disease genes in rare neurological conditions
M Engvall - 2021 - search.proquest.com
This thesis is about improving diagnosis and treatment to persons affected by rare diseases.
Diagnosis before treatment is a principle often told to medical students. But what if a …
Diagnosis before treatment is a principle often told to medical students. But what if a …