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Neurogenetics
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Your search returned 31 results
from the time period: last 30 days.
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1. Cardiomyopathy in Friedreich's Ataxia.  
Date: 10/23/2017
European heart journal
Cardiomyopathy in Friedreich's Ataxia..
Cardiomyopathies (2), Friedreich Ataxia (2), more mentions
Muscle & nerve
Abstract: Introduction Sensory impairment in Friedreich's ataxia (FRDA) is generally accepted as being due to a ganglionopathy... All rights reserved Keyword: Friedreich's ataxia. Keyword: cross-sectional area. Keyword: nerve ultrasound. Keyword: peripheral nerves. Keyword: sensory neuropathy.
Friedreich Ataxia (3), more mentions
Clinical rehabilitation
Significant within-group improvements in the Friedreich Ataxia Impact Scale and the motor domain of the Functional Independence ... rehabilitation can improve health and well-being in individuals with Friedreich's ataxia; however, a larger study is required to have sufficient power ... function, the motor domain of the Functional Independence Measure Keyword: Friedreich’s ataxia.
Friedreich Ataxia (8), Ataxia (1), Spinocerebellar Ataxias (1), more mentions
4. Huntington's Disease: Premotor Phase.  
Date: 10/26/2017
Neuro-degenerative diseases
Abstract: Huntington's disease (HD) is an incurable, neurodegenerative disease, which manifests via a triad of progressive symptoms: motor impairment, psychiatric disorders, and cognitive decline... Keyword: Huntington’s disease. Keyword: Premotor phase.
Neurological and Central Nervous System Diseases (2), Neuroscience (1)
Huntington Disease (2), Chorea (1), Psychotic Disorders (1), more mentions
Disease models & mechanisms 
Abstract: Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease usually caused by large homozygous expansions of GAA repeat sequences in intron 1 of the frataxin (FXN) gene... Keyword: Friedreich's ataxia. Keyword: RNA sequencing. Keyword: Solute carriers. Keyword: Translation.
Friedreich Ataxia (3), Neurodegenerative Diseases (1), more mentions
Clinical genetics
Abstract: Huntington disease (HD) is most prevalent among populations of western European descent and isolated populations where founder effects may operate... Keyword: Huntington Disease. Keyword: epidemiology. Keyword: founder effect. Keyword: geographic clustering. Keyword: incidence. Keyword: prevalence.
Huntington Disease (3), more mentions
Neurorehabilitation and neural repair
... whilst walking might be associated with poorer balance and a higher risk of falling in individuals with symptomatic Huntington's disease (symp-HD... in symp-HD AbstractText: These findings could aid clinicians in better managing risk of falls in people with Huntington's disease through targeted and effective strategies Keyword: Huntington’s disease.
Neurological and Central Nervous System Diseases (3)
Huntington Disease (3), Neurodegenerative Diseases (1), more mentions
PloS one
AbstractText: Classic Rett Syndrome (RS) is a disabling condition mainly caused by MECP2 mutations. Girls with RS are at risk of developing bone fragility and fractures at a young age which results in pain and may seriously impair quality of life AbstractText: To retrospectively assess the safety and efficacy of IV bisphosphonates on fracture, bone mineral density (BMD) and bone ...
Muscular and Skeletal Diseases (3)
Rett Syndrome (2), Chronic Pain (1), more mentions
Drugs
Abstract: Oral deutetrabenazine (Austedo™), a reversible inhibitor of vesicular monoamine transporter type 2 (VMAT2) that is structurally related to tetrabenazine is approved for the treatment of chorea symptoms associated with Huntington's disease (HD. In the pivotal 12-week phase III FIRST-HD trial (n = 90), deutetrabenazine, at doses titrated for optimal chorea control and tolerability (maintenance dosage range 12-48 ...
Neurological and Central Nervous System Diseases (2)
Chorea (6), Huntington Disease (2), more mentions
Nature reviews. Neurology
Neurodevelopmental disorders: Miniaturized protein offers treatment hopes for Rett syndrome..
Rett Syndrome (2), more mentions
Palliative medicine
... views of people who live with the inevitability of developing Huntington's disease, a genetically transmitted disease which significantly limits life, on assisted ... five women and two men) who were gene positive for Huntington's disease took part in the study AbstractText: Four themes were extracted ... kindness in assisted dying: the importance of moral principles; (2) Huntington's disease threatens life and emphasises issues relating to death; (3) dilemmas ...
Neurological and Central Nervous System Diseases (7)
Huntington Disease (8), Neurodegenerative Diseases (1), more mentions
Journal of neurology
Because the end result of Huntington disease is death due to Huntington disease-related causes, there is a need for better understanding and ... to evaluate important aspects of end of life planning for Huntington disease... AbstractText: Participants included 508 individuals with pre-manifest or manifest Huntington disease AbstractText: Item response theory supported the retention of all 16 items on the huntington disease quality of life ("HDQLIFE") end of life planning measure ...
Huntington Disease (8), Neurodegenerative Diseases (1), more mentions
Parkinsonism & related disorders
AbstractText: Huntington disease is a progressive neurodegenerative disorder without a cure... Keyword: Huntington disease. Keyword: Integration. Keyword: Multidisciplinary. Keyword: Technology.
Huntington Disease (3), Chorea (1), Neurodegenerative Diseases (1), more mentions
Acta neuropathologica
Abstract: Accumulating evidence highlights the potential role of mixed proteinopathies (i.e., abnormal protein aggregation) in the development of clinical manifestations of neurodegenerative diseases (NDD. Huntington's disease (HD) is an inherited NDD caused by autosomal-dominant expanded CAG trinucleotide repeat mutation in the gene coding for Huntingtin (Htt... Keyword: Huntington’s disease. Keyword: Proteinopathy.
Neurological and Central Nervous System Diseases (2)
Huntington Disease (2), TDP-43 Proteinopathies (1), Neurodegenerative Diseases (1), more mentions
Parkinsonism & related disorders
AbstractText: Motor disturbances are clinical hallmarks of Huntington's disease (HD) and involve chorea, dystonia, hypokinesia and visuomotor dysfunction... Keyword: Huntington's disease. Keyword: Motor cortex. Keyword: Structural MRI.
Neurological and Central Nervous System Diseases (5)
Chorea (5), Huntington Disease (3), Dystonia (2), more mentions
Journal of neurology
AbstractText: Preclinical data have shown that rilmenidine can regulate autophagy in models of Huntington's disease (HD), providing a potential route to alter the disease course in patients. Consequently, a 2-year open-label study examining the tolerability and feasibility of rilmenidine in mild-moderate HD was undertaken. 18 non-demented patients with mild to moderate HD took daily doses of ...
Neuroscience (3), Neurological and Central Nervous System Diseases (2)
Huntington Disease (2), Neurodegenerative Diseases (1), more mentions
Brain : a journal of neurology
Pope Francis champions Huntington's disease..
Neurological and Central Nervous System Diseases (2)
Huntington Disease (2), more mentions
Brain : a journal of neurology
Patients with Huntington's disease pioneered human stereotactic neurosurgery 70 years ago..
Neurological and Central Nervous System Diseases (2)
Huntington Disease (2), more mentions
Revue neurologique
... metabolism, some of which may represent potentially treatable conditions, thereby emphasizing the importance of recognizing such diseases. The present review discusses the most important neurometabolic disorders presenting with motor neuron (lower and/or upper) dysfunction as the key clinical and neuropathological feature Keyword: Amyotrophic lateral sclerosis. Keyword: Inborn errors of metabolism. Keyword: Motor neuron disease. Keyword: Neurogenetics. Keyword: Neurometabolic disorders.
Neurological and Central Nervous System Diseases (2)
Inborn Metabolism Errors (3), Motor Neuron Disease (3), Amyotrophic Lateral Sclerosis (2), more mentions
Neuro-degenerative diseases
... motor neurons of ALS patients with C9orf72 repeat expansions, implicating hnRNPA3 in the pathogenesis of C9orf72-linked ALS. hnRNPA3 warrants further investigation into the pathogenesis of ALS linked to C9orf72. This study also determined that HNRNP mutations are not a common cause of FALS and SALS in Australia Keyword: Amyotrophic lateral sclerosis. Keyword: Heterogeneous nuclear ribonucleoproteins. Keyword: Neurogenetics. Keyword: Neuropathology.
Neurological and Central Nervous System Diseases (15), Neuroscience (2)
Amyotrophic Lateral Sclerosis (15), Frontotemporal Dementia (2), more mentions
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