Results 91 to 100 of about 768,160 (341)
Indian Journal of Paediatric DermatologyRothmund–Thomson syndrome (RTS) is a rare genodermatosis with only 300 cases reported till date. It manifests a wide array of symptoms affecting skin and skin appendages.
Jyoti Budhwar, Guramrit Singh Mundi
doaj +1 more source
SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy [PDF]
, 2015 Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 ...
Annalisa Nobili +51 more
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neurodegeneration with brain iron accumulation (NBIA) comprises rare genetic disorders characterized by predominantly extrapyramidal symptoms and iron deposition in the basal ganglia. Conventional magnetic resonance imaging (MRI) detects qualitative changes but cannot accurately quantify iron accumulation. Quantitative susceptibility
Özge Uygun +21 more
wiley +1 more source
New European guidelines for the management of patients with precancerous changes in the stomach
Медицинский совет, 2019 Aim of the review: to analyze the current aspects of the management of patients with precancerous changes in the stomach, as outlined in the new MAPS II European recommendations.Basic provisions.
V. V. Tsukanov +3 more
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Disease modifying therapy for multiple system atrophy – Parkinsonian Type [PDF]
, 2017 BACKGROUND: Multiple System Atrophy –Parkinsonian Type (MSA-P) is a rare, rapidly progressive neurodegenerative disease without any current treatment.
Dwyer, Sean Sullivan
core
Long‐Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives This ongoing, open‐label extension study is evaluating the long‐term safety, tolerability, and efficacy of givinostat, a Class I and II histone deacetylase inhibitor, in patients with Duchenne muscular dystrophy (DMD). Methods The recruited patients completed one of two prior clinical studies (one Phase 2 and one Phase 3 [EPIDYS ...
Craig M. McDonald +74 more
wiley +1 more source
Oxidative stress and muscle homeostasis [PDF]
, 2010 Purpose of review The term oxidative stress is often used to indicate a condition in which the accumulation of reactive oxygen species is considered just damaging.
Fanò, Giorgio +2 more
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Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy [PDF]
, 2013 BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disease resulting from mutations in the survival motor neuron 1 (SMN1) gene. Recent breakthroughs in preclinical research have highlighted several potential novel therapies for SMA, increasing ...
Gillingwater, T. H. +4 more
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Autosomal dominant progranulin (GRN) pathogenic variants are a genetic cause of frontotemporal lobar degeneration. Though clinical trials for GRN‐related therapies are underway, there is an unmet need for biomarkers that can predict symptom onset and track disease progression.
Taru M. Flagan +46 more
wiley +1 more source
A CASE OF ACUTE YELLOW ATROPHY OF THE LIVER. [PDF]
, 1906 ThomasAlpheus Buck
openalex +3 more sources