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Wyświetlanie 1-20 z 1324
Tytuł:
Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.
Autorzy:
Braun F; Department of Neuropediatrics, Essen University Hospital, Essen, Germany.
Gangfuß A; Department of Neuropediatrics, Essen University Hospital, Essen, Germany.
Stöbe P; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tuebingen, Tübingen, Germany.
Schweiger B; Institute for Diagnostic and Interventional Radiology and Neuroradiology, Essen University Hospital, Essen, Germany.
Roos A; Department of Neuropediatrics, Essen University Hospital, Essen, Germany.
Schara U; Department of Neuropediatrics, Essen University Hospital, Essen, Germany.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Dec; Vol. 9 (12), pp. e1767. Date of Electronic Publication: 2021 Jul 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Mutation*
Carrier Proteins/*genetics
Craniofacial Abnormalities/*diagnosis
Craniofacial Abnormalities/*genetics
Dysostoses/*diagnosis
Dysostoses/*genetics
Ribs/*abnormalities
Spine/*abnormalities
Alleles ; Facies ; Female ; Genotype ; Humans ; Infant ; Infant, Newborn ; Kidney/abnormalities ; Kidney/diagnostic imaging ; Pedigree ; Phenotype ; Spine/diagnostic imaging ; Tomography, Spiral Computed
SCR Disease Name:
Diaphanospondylodysostosis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy.
Autorzy:
Saffari A; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
Cannet C; Bruker BioSpin GmbH, Rheinstetten, Germany.
Blaschek A; Division of Pediatric Neurology and Developmental Medicine and LMU Center for Children With Medical Complexity, LMU Hospital, Dr. von Hauner Children's Hospital, Munich, Germany.
Hahn A; Department of Child Neurology, University Hospital Gießen, Gießen, Germany.
Hoffmann GF; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
Johannsen J; Department of Pediatrics, Neuropediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Kirsten R; NCT Liquidbank, National Center for Tumor Diseases, Heidelberg, Germany.
Kockaya M; Buchener Str. 12, Mannheim, Germany.
Kölker S; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
Müller-Felber W; Division of Pediatric Neurology and Developmental Medicine and LMU Center for Children With Medical Complexity, LMU Hospital, Dr. von Hauner Children's Hospital, Munich, Germany.
Roos A; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Centre for Neuromuscular Disorders in Children, Children's University Clinic Essen, University of Duisburg-Essen, Essen, Germany.
Schäfer H; Bruker BioSpin GmbH, Rheinstetten, Germany.
Schara U; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Centre for Neuromuscular Disorders in Children, Children's University Clinic Essen, University of Duisburg-Essen, Essen, Germany.
Spraul M; Bruker BioSpin GmbH, Rheinstetten, Germany.
Trefz FK; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
Vill K; Division of Pediatric Neurology and Developmental Medicine and LMU Center for Children With Medical Complexity, LMU Hospital, Dr. von Hauner Children's Hospital, Munich, Germany.
Wick W; Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany.
Weiler M; Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany.
Okun JG; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
Ziegler A; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 20; Vol. 16 (1), pp. 441. Date of Electronic Publication: 2021 Oct 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Muscular Dystrophy, Duchenne*
Adolescent ; Child ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Proton Magnetic Resonance Spectroscopy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.
Autorzy:
Vill K; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Lindwurmstraße 4, 80337, München, Germany.
Schwartz O; Department of Pediatric Neurology, Münster University Hospital, Münster, Germany.
Blaschek A; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Lindwurmstraße 4, 80337, München, Germany.
Gläser D; Center for Human Genetics, Genetikum®, Neu-Ulm, Germany.
Nennstiel U; Screening Center of the Bavarian Health and Food Safety Authority, Oberschleißheim, Germany.
Wirth B; Institute of Human Genetics, Center for Molecular Genetics Cologne and Center for Rare Diseases, University of Cologne, Cologne, Germany.
Burggraf S; Labor Becker und Kollegen, Munich, Germany.
Röschinger W; Labor Becker und Kollegen, Munich, Germany.
Becker M; Labor Becker und Kollegen, Munich, Germany.
Czibere L; Labor Becker und Kollegen, Munich, Germany.
Durner J; Labor Becker und Kollegen, Munich, Germany.; Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, LMU - University of Munich, München, Germany.
Eggermann K; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Olgemöller B; Formerly Labor Becker, Olgemöller und Kollegen, Munich, Germany.
Harms E; Department of Pediatrics, Muenster University Hospital, Münster, Germany.
Schara U; Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Essen, Germany.
Kölbel H; Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Essen, Germany.
Müller-Felber W; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Lindwurmstraße 4, 80337, München, Germany. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Mar 31; Vol. 16 (1), pp. 153. Date of Electronic Publication: 2021 Mar 31.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Neurodegenerative Diseases*
Spinal Muscular Atrophies of Childhood*/diagnosis
Spinal Muscular Atrophies of Childhood*/genetics
Child ; Germany ; Humans ; Infant ; Infant, Newborn ; Neonatal Screening ; Survival of Motor Neuron 1 Protein/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study.
Autorzy:
Annoussamy M; Institute of Myology, GH Pitié Salpêtrière, Paris, France.; Sysnav, Vernon, France.
Seferian AM; Institute of Myology, GH Pitié Salpêtrière, Paris, France.
Daron A; Centre de Référence des Maladies Neuromusculaires, CHU de Liège, Liege, Belgium.
Péréon Y; Centre de Référence Maladies Neuromusculaires Atlantique-Occitanie-Caraïbes, Hôpital Hôtel-Dieu, Nantes, France.
Cances C; Centre de Référence des Maladies, Neuromusculaires, Hôpital des Enfants, Toulouse, France.; Unité de Neurologie Pédiatrique, Hôpital des Enfants, Toulouse, France.
Vuillerot C; Service de rééducation pédiatrique infantile L'Escale, Hôpital Mère Enfant, CHU-Lyon, Bron, France.; Neuromyogen Institute, CNRS, UMR 5310 INSERM U1217, Université de Lyon, Lyon, France.
De Waele L; Department of Pediatric Neurology, University Hospitals Leuven, Leuven, Belgium.; Department of Development and Regeneration, KU Leuven Kulak Kortrijk, Kortrijk, Belgium.
Laugel V; Neuropédiatrie, INSERM CIC 1434, CHU Strasbourg Hautepierre, Strasbourg, France.
Schara U; Paediatric neurology and Neuromuscular Center, University of Essen, Essen, Germany.
Gidaro T; Institute of Myology, GH Pitié Salpêtrière, Paris, France.
Lilien C; Institute of Myology, GH Pitié Salpêtrière, Paris, France.; Department of Paediatrics, MDUK Oxford Neuromuscular Centre, University of Oxford, Oxford, UK.
Hogrel JY; Institute of Myology, GH Pitié Salpêtrière, Paris, France.
Carlier P; Institute of Myology, GH Pitié Salpêtrière, Paris, France.
Fournier E; Institute of Myology, GH Pitié Salpêtrière, Paris, France.
Lowes L; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, USA.
Gorni K; PDMA Neuroscience and Rare Disease, F. Hoffmann-La Roche Ltd., Basel, Switzerland.
Ly-Le Moal M; Institut Roche, Boulogne-Billancourt, France.
Hellbach N; Roche Pharmaceutical Research and Early Development, Roche Innovation Center, Basel, Switzerland.
Seabrook T; Roche Pharmaceutical Research and Early Development, Roche Innovation Center, Basel, Switzerland.
Czech C; Roche Pharmaceutical Research and Early Development, Roche Innovation Center, Basel, Switzerland.; Rare Disease Research Unit, Pfizer, Nice, France.
Hermosilla R; Roche Pharmaceutical Research and Early Development, Roche Innovation Center, Basel, Switzerland.
Servais L; Institute of Myology, GH Pitié Salpêtrière, Paris, France.; Department of Paediatrics, MDUK Oxford Neuromuscular Centre, University of Oxford, Oxford, UK.; Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège & University of Liège, Liège, Belgium.
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Corporate Authors:
NatHis-SMA study group
Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2021 Feb; Vol. 8 (2), pp. 359-373. Date of Electronic Publication: 2020 Dec 24.
Typ publikacji:
Journal Article; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscle Strength*
Muscular Atrophy, Spinal/*diagnostic imaging
Muscular Atrophy, Spinal/*physiopathology
Nerve Tissue Proteins/*blood
RNA-Binding Proteins/*blood
Upper Extremity/*physiopathology
Adolescent ; Adult ; Child ; Child, Preschool ; Disability Evaluation ; Disease Progression ; Humans ; Longitudinal Studies ; Magnetic Resonance Imaging ; Motor Activity ; Muscular Atrophy, Spinal/blood ; Respiratory Function Tests ; Severity of Illness Index ; Time Factors ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Autorzy:
Meyer R; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany.
Begemann M; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany.
Hübner CT; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany.
Dey D; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany.
Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Elgizouli M; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Schara U; Department of Neuropediatrics, University Children's Hospital, University Duisburg-Essen, Essen, Germany.
Ambrozaityte L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Burnyte B; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Schröder C; Zentrum Für Kinder- Und Jugendmedizin, Abt. Allgemeine Pädiatrie, Universitätsmedizin Greifswald, Greifswald, Germany.
Kenawy A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Kroisel P; Institute of Human Genetics, Graz, Austria.
Demuth S; Praxis Für Humangenetik, Erfurt, Germany.
Fekete G; II. Department of Pediatrics, Semmelweis University, Budapest, Hungary.
Opladen T; Division for Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany.
Elbracht M; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany.
Eggermann T; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Jan 22; Vol. 16 (1), pp. 42. Date of Electronic Publication: 2021 Jan 22.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Silver-Russell Syndrome*/diagnosis
Silver-Russell Syndrome*/genetics
DNA Methylation ; Humans ; Molecular Diagnostic Techniques ; Phenotype ; Uniparental Disomy ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
P.371 - Safety and efficacy findings in the first-in-human trial (FIH) of the oral splice modulator branaplam in type 1 spinal muscular atrophy (SMA): interim results
Autorzy:
Charnas, L.
Voltz, E.
Pfister, C.
Peters, T.
Hartmann, A.
Berghs-Clairmont, C.
Praestgaard, J.
de Raspide, M.
Deconinck, N.
Born, A.
Baranello, G.
Bertini, E.
Schara, U.
Goemans, N.
Roubenoff, R.
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Źródło:
In Neuromuscular Disorders October 2017 27 Supplement 2:S207-S208
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-20 z 1324

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