Results 161 to 170 of about 80,831 (209)

Evidence of inequities experienced by the rare disease community with respect to receipt of a diagnosis and access to services: a scoping review of UK and international evidence. [PDF]

Orphanet J Rare Dis
Briscoe S, Martin Pintado C, Sutcliffe K, Melendez-Torres GJ, Garside R, Lawal HM, Orr N, Shaw L, Thompson Coon J.   +8 more
europepmc   +1 more source

<i>Sida cordifolia</i> is efficacious in models of Huntington's disease by reducing ER stress. [PDF]

Front Mol Biosci
Simha PK, Mukherjee C, Kumar Gupta V, Bhatia K, Nagar P, Za AN, Godbole A, Sahu BS, Upadhyay SK.   +8 more
europepmc   +1 more source

The Historical and Genetic Evolution of Juvenile Huntington’s Disease

Physiology
It has been 152 years since George Huntington, a 22-year-old medical school graduate, published his first paper about his observations, “On Chorea.” George Huntington may have been young, but as the grandchild of multi-generational hometown doctors, he ...
K. Reilly, Laura Lorentzen
semanticscholar   +2 more sources

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Dysregulation of Human Juvenile Huntington’s Disease Brain Proteomes in Cortex and Putamen Involves Mitochondrial and Neuropeptide Systems

Journal of Huntington's Disease, 2023
Background: Huntington’s disease (HD) is a genetic neurodegenerative disease caused by trinucleotide repeat CAG expansions in the human HTT gene. Early onset juvenile HD (JHD) in children is the most severe form of the disease caused by high CAG repeat ...
Sonia Podvin, Charles Mosier, William Poon, Enlin Wei, Leigh-Ana Rossitto, Vivian Hook   +5 more
semanticscholar   +1 more source

Juvenile Huntington's disease: a clinical case from a pediatric's practice

Clinical review for general practice, 2023
Background. Huntington's disease (Hd) is a hereditary neurodegenerative disease with an autosomal dominant type of inheritance and manifested by motor, behavioral and mental disorders.
Emilia E. Alieva, Polina A. Klishina, Bella O. Matsukatova, Alfiya I. Aminova   +3 more
semanticscholar   +1 more source

Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases

American Journal of Medical Genetics. Part A
Extremely early‐onset juvenile Huntington's disease (HD) has been described in three patients with onset at approximately 18 months to 2 years of age. Herein, we report a patient with, to our knowledge, the youngest age of onset with the largest reported
Zoe Powis, Jonathon Lutz, Khalida Liaquat, Jyes Querubin, S. Batish   +4 more
semanticscholar   +1 more source

Locomotor Recovery of Juvenile Huntington's Disease Treated by Pallidothalamic Tractotomy

Movement Disorders, 2020
Huntington’s disease (HD) is a neurodegenerative autosomaldominant disorder that is caused by a CAG triplet repeat expansion in the gene for Huntington’s disease. Chorea is a hyperkinetic movement disorder that is a cardinal motor symptom of HD.
S. Horisawa, K. Kitagawa, T. Kawamata, T. Taira   +3 more
semanticscholar   +1 more source

Excessive blinking as an initial manifestation of juvenile Huntington’s disease

Neurological Sciences, 2008
S. Xing, Ling Chen, Xi Chen, Z. Pei, J. Zeng, Jin-ru Li   +5 more
semanticscholar   +2 more sources

Juvenile Huntington’s disease and paediatric Huntington’s disease

, 2020
Juvenile Huntington’s disease (JHD) is rare. It is usually defined as someone having an onset before 21 years. A more accurate description would be juvenile-onset HD.
O. Quarrell
semanticscholar   +1 more source