Detailansicht

Wissensnetz

Person

Andreas Roos (1978-)

Biologe

Name	Andreas Roos
Zeit	1978- (Lebensdaten)
Ort	Essen (Wirkungsort) Deutschland
Akademischer Grad bzw. Titel	Dr. rer. nat.
Beruf	Biologe (charakteristischer Beruf)
Beziehung	Universitätsklinikum Essen Universitätsklinikum Düsseldorf
Weitere Angaben	Ist am Zentrum für Kinder- und Jugendmedizin, Klinik für Allgemeine Pädiatrie mit Schwerpunkt Neuropädiatrie des Universitätsklinikums Essen tätig
Quelle	Homepage: http://www.andreas-roos.de/Home/ (Stand: 27.07.2022)
Datensatztyp	Person
GND-Nummer	140250808
Datensatz-ID	140250808
Beteiligt an alle anzeigen A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents Cathepsin D as biomarker in CSF of nusinersen‐treated patients with spinal muscular atrophy Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement Molecular pathophysiology of human MICU1‐deficiency Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy Clinical presentation and proteomic signature of patients with TANGO2 mutations Long term follow-up on pediatric cases with congenital myasthenic syndromes - a retrospective single centre cohort study Modulation of the acetylcholine receptor clustering pathway improves neuromuscular junction structure and muscle strength in a mouse model of congenital myasthenic syndrome Severe neurodevelopmental disease caused by a homozygous TLK2 variant Biochemical and pathological changes result from mutated Caveolin-3 in muscle GNE myopathy: from clinics and genetics to pathology and research strategies Intersection of Proteomics and Genomics to “Solve the Unsolved” in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases Biochemical and pathological changes result from mutated Caveolin-3 in muscle Comprehensive RNA-sequencing analysis in serum and muscle reveals novel small RNA signatures with biomarker potential for DMD GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTENmutation Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons Neuromuscular junction changes in a mouse model of Charcot-Marie-Tooth disease Type 4C Molekulargenetische und funktionelle Untersuchungen zu autosomal-rezessiv erblichen Neuropathien Molekulargenetische und funktionelle Untersuchungen zu autosomal-rezessiv erblichen Neuropathien

Hinweis

Die Betaversion beinhaltet noch nicht alle Funktionen und Informationen des Katalogs des DNB-Portals. Falls Sie Informationen vermissen oder ein Medium bestellen wollen, besuchen Sie bitte die entsprechende Seite im Katalog des DNB-Portals über folgenden Link:

Katalog der Deutschen Nationalbibliothek

Andreas Roos (1978-)

A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents

Cathepsin D as biomarker in CSF of nusinersen‐treated patients with spinal muscular atrophy

Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement

Molecular pathophysiology of human MICU1‐deficiency

Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Long term follow-up on pediatric cases with congenital myasthenic syndromes - a retrospective single centre cohort study

Modulation of the acetylcholine receptor clustering pathway improves neuromuscular junction structure and muscle strength in a mouse model of congenital myasthenic syndrome

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

Biochemical and pathological changes result from mutated Caveolin-3 in muscle

GNE myopathy: from clinics and genetics to pathology and research strategies

Intersection of Proteomics and Genomics to “Solve the Unsolved” in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases

Biochemical and pathological changes result from mutated Caveolin-3 in muscle

Comprehensive RNA-sequencing analysis in serum and muscle reveals novel small RNA signatures with biomarker potential for DMD

GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice

GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTENmutation

Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons

Neuromuscular junction changes in a mouse model of Charcot-Marie-Tooth disease Type 4C

Molekulargenetische und funktionelle Untersuchungen zu autosomal-rezessiv erblichen Neuropathien

Molekulargenetische und funktionelle Untersuchungen zu autosomal-rezessiv erblichen Neuropathien