Results 131 to 140 of about 1,609,120 (298)
Malformazioni congenite: risultati della collaborazione tra Registro Nazionale Malattie Rare e Registri dei Difetti Congeniti [PDF]
This contribution has been included in a report, based on training courses held at the Istituto Superiore di Sanit? (the Italian National Institute of Health. This report consists of two parts.
Bianchi, Fabrizio, Pierini, Anna
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Malignant Melanoma of Nose and Paranasal Sinuses: 2 Case Reports [PDF]
, 2010 Malignant melanoma is one of the rare and highly aggressive diseases of the sinonasal cavity. High index of suspicion is required for diagnosis as the patient usually presents with non specific signs and symptoms.
Bhagat, S +4 more
core +1 more source
Immune‐Driven Expression in Inclusion Body Myositis With T‐Cell Large Granular Lymphocytic Leukemia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives T‐cell large granular lymphocytic leukemia (T‐LGLL), reported in up to 58% of inclusion body myositis (IBM) patients, is a rare leukemia of cytotoxic or less commonly helper T cells. The range of myopathies in T‐LGLL and the impact of coexisting T‐LGLL in IBM are not well understood. Our objectives are to investigate the spectrum of
Pannathat Soontrapa +10 more
wiley +1 more source
Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source
Establishing prevalence in rare neuromuscular diseases: A lesson from congenital myopathies [PDF]
, 2017 Bamaga, Ahmed K., Weihl, Conrad C.
core +2 more sources
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. [PDF]
, 2019 It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene1. The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most ...
Ashley, Euan A +35 more
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman +9 more
wiley +1 more source
Orphanet Journal of Rare DiseasesBackground Sialidosis type 1 (ST-1) is a rare autosomal recessive disorder caused by mutation in the NEU1 gene. However, limited reports on ST-1 patients in the Chinese mainland are available.
Yi-Chu Du +5 more
doaj +1 more source
The Italian National Rare Diseases Registry. [PDF]
INTRODUCTION:Rare disease registries are a priority at European level and specific actions are being implemented by the European Commission to support their development.In Italy, a National Registry of rare diseases has been established in 2001 as a ...
Bianchi, Fabrizio +5 more
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