Results 91 to 100 of about 260,514 (183)
Arquivos de Neuro-Psiquiatria, 1995 The dystrophin distribution in the plasma muscle membrane using immunohystochemistry was studied in 22 children with congenital muscular dystrophy. The dystrophin was detected by immunofluorescence in muscle biopsy through a polyclonal antibody.
Lineu Cesar Werneck, Eduardo Bonilla
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
Doenças neuromusculares Neuromuscular disorders
Jornal de Pediatria, 2002 Objetivo: apresentar os dados essenciais para o diagnóstico diferencial entre as principais doenças neuromusculares, denominação genérica sob a qual agrupam-se diferentes afecções, decorrentes do acometimento primário da unidade motora (motoneurônio ...
Umbertina C. Reed
doaj +1 more source
A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy
Clinical Genetics, EarlyView.PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady +3 more
wiley +1 more source
Treatment for congenital toxoplasmosis: finding out what works [PDF]
, 2009 Evidence for the effectiveness of prenatal or postnatal treatment for congenital toxoplasmosis will be critical to guide policy about prenatal and neonatal screening over the next 10 years, let alone the next 100.
Gilbert, R, Ruth Gilbert, Gilbert, Ruth
core +1 more source
Voice Fundamental Frequency Variation and Statin Therapy
Clinical Otolaryngology, EarlyView.ABSTRACT Objectives Statins are considered a first‐line treatment for dyslipidaemia, being the most frequently prescribed medicine worldwide. However, statin therapy has been associated with several adverse effects, including statin‐associated myopathy, which may manifest with symptoms such as myalgia, muscle stiffness, and cramps.
Luca Francesco Parata +5 more
wiley +1 more source
Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]
, 2009 Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel +8 more
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European Journal of Haematology, EarlyView.ABSTRACT Eosinophilia, defined as an absolute eosinophil count (AEC) of ≥ 0.5 × 109/L, is a frequently encountered finding with a vast spectrum of potential underlying etiologies. Hypereosinophilia (HE) is defined as AEC > 1.5 × 109/L and may become life‐threatening when eosinophil‐induced organ damage occurs, defining the hypereosinophilic syndrome ...
Stijn Wigerinck, Peter Vandenberghe
wiley +1 more source
, 2014 Gene score is the sum of GO, HPO, MPO and IA scores. Relative contributions of GO, HPO, MPO and IA scores to the gene score are shown in the columns %GO, %HPO, %MPO and %IA, respectively.
Olivier Pourquié (271227) +5 more
core +1 more source
Acta Neuropathologica CommunicationsNeuromuscular disorders (NMD) with neonatal or early infantile onset are usually severe and differ in symptoms, complications, and treatment options.
Mai Thao Bui +15 more
doaj +1 more source