Search Results - "Carrè, Sophie"
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A conserved sorting-associated protein is mutant in chorea-acanthocytosis
Published in Nature genetics (01-06-2001)“…Chorea-acanthocytosis (CHAC, MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and…”
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2
Current cough and sputum assessed by the cough and sputum assessment-questionnaire (CASA-Q) is associated with quality of life impairment in cystic fibrosis
Published in BMC pulmonary medicine (21-11-2023)“…Abstract Background Cough and sputum are major symptoms in cystic fibrosis (CF) that contribute to the impairment of quality of life. Methods This prospective…”
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Identifying specific needs in adult cystic fibrosis patients: a pilot study using a custom questionnaire
Published in BMC pulmonary medicine (18-08-2021)“…Adult patients with cystic fibrosis (CF) experience daily physical symptoms and disabilities that can be challenging to address for health care teams. We…”
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4
What evidence exists on the possible effects of urban forms on terrestrial biodiversity in western cities? A systematic map protocol
Published in Environmental evidence (19-10-2021)“…Abstract Background As urban areas expand, scientists now agree that the city is an important space for biodiversity conservation. Yet, still relatively little…”
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Health-Related Quality of Life in Adults with Cystic Fibrosis: Familial, Occupational, Social, and Mental Health Predictors
Published in Healthcare (Basel) (01-07-2022)“…Background: Cystic Fibrosis (CF) adult patients experience daily physical symptoms and disabilities that may impact their quality of life and mental health…”
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Patient education needs in severe asthma, a pilot study
Published in BMC pulmonary medicine (15-03-2024)“…Severe asthma is characterized by frequent exacerbations, altered lung function, and impaired quality of life. Tailored patient education allows for the…”
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Prevalence and Impact of Rheumatologic Pain in Cystic Fibrosis Adult Patients
Published in Frontiers in medicine (08-02-2022)“…With the improvement of cystic fibrosis (CF) patient survival, the prevalence of long-term complications increased, among them rheumatologic disorders. The aim…”
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8
Paraplegia as a presentation of primary hyperoxaluria
Published in CEN case reports (01-11-2018)“…30% of the patients suffering from hyperoxaluria type 1 are diagnosed only when they already had reached end-stage renal disease. We report the case of a…”
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Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation
Published in Neuromuscular disorders : NMD (01-12-2007)“…Abstract Mutations in dynamin 2 (DNM2), an ubiquitously-expressed large GTPase, cause autosomal dominant centronuclear myopathy (DNM2-CNM) and AD…”
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10
Language‐induced Epilepsy, Acquired Stuttering, and Idiopathic Generalized Epilepsy: Phenotypic Study of One Family
Published in Epilepsia (Copenhagen) (01-04-2006)“…Purpose: Language‐induced epilepsy involves seizure precipitation by speaking, reading, and writing. Seizures are similar to those of reading epilepsy (RE)…”
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Presence of Trichobilharzia szidati in Lymnaea stagnalis and T. franki in Radix auricularia in northeastern France: molecular evidence
Published in Parasitology research (1987) (2005)“…A molecular approach was used to analyse a focus of cercarial dermatitis in northeastern France (Lake Der-Chantecoq), including both cercariae and snails,by…”
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Neurologic and neuroimaging findings in patients with COVID-19: A retrospective multicenter study
Published in Neurology (29-09-2020)“…OBJECTIVETo describe neuroimaging findings and to report the epidemiologic and clinical characteristics of patients with coronavirus disease 2019 (COVID-19)…”
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Ocular MRI Findings in Patients with Severe COVID-19: A Retrospective Multicenter Observational Study
Published in Radiology (01-05-2021)“…Coronavirus disease 2019 (COVID-19) may affect various organs. This case series reports nine patients (one of nine [11%] women and eight of nine [89%] men;…”
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L’assistanat spécialisé à temps partagé (ASTP) : une collaboration des hôpitaux généraux alsaciens, du CHRU de Strasbourg et de l’ARS, dans un contexte de tension d’effectif de personnel médical
Published in Revue neurologique (01-04-2023)“…L’assistanat spécialisé à temps partagé (ASTP) est un projet régional de santé piloté par l’Agence régionale de la santé (ARS). Il s’agit d’un partenariat…”
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Cerebral perfusion using ASL in patients with COVID-19 and neurological manifestations: A retrospective multicenter observational study
Published in Journal of neuroradiology (01-09-2023)“…•In a multicentric cohort of 59 patients suffering from severe COVID-19, ASL perfusion was abnormal in 53, hypoperfusion occurred in 48 (with a predominant…”
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Syndrome parkinsonien dopa-résistant avec syncope posturale : apport diagnostique de l'IRM et du test à la clonidine
Published in Médecine thérapeutique : MT (01-03-2000)Get full text
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