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Publikationen

UMR/KN/Sektion für Translationale Neurogeneration "Albrecht Kossel"

Details ansehen zu: UMR/KN/Sektion für Translationale Neurogeneration "Albrecht Kossel"
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2010 Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults: Brain and development : official journal of the Japanese Society of Child Neurology. - Amsterdam [u.a.] : Elsevier Zeitschriftenartikel Druckschrift
2010 Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis: Clinical genetics : an international journal of genetics in medicine. - Oxford : Wiley-Blackwell Zeitschriftenartikel Druckschrift
2010 A new facile synthesis of 3-amidoindole derivatives and their evaluation as potential GSK-3ß inhibitors: Organic & biomolecular chemistry : OBC ; an international journal of synthetic, physical and biomolecular organic chemistry. - Cambridge : RSC Zeitschriftenartikel Druckschrift
2010 Design and validation of a metabolic disorder resequencing microarray (BRUM1): Human mutation : variation, databases, and disease. - Hoboken, NJ : Wiley-Blackwell Zeitschriftenartikel Druckschrift
2010 Regional expression of the ADAMs in developing chicken cochlea: Developmental dynamics : an official publication of the American Association of Anatomists. - New York, NY [u.a.] : Wiley-Liss Zeitschriftenartikel Druckschrift
2010 Differentiation of human neural progenitor cells regulated by Wnt-3a: Biochemical and biophysical research communications : BBRC. - San Diego, Calif : Elsevier Zeitschriftenartikel Druckschrift
2010 Molecular characterization and expression analysis of ADAM12 during chicken embryonic development: Development, growth & differentiation. - Richmond, Vic. : Blackwell Publ. Asia Zeitschriftenartikel Druckschrift
2010 Das Nervensystem als biologisches regeneratives System: Traditio et innovatio : Forschungsmagazin der Universität Rostock. - Rostock : Univ., Der Rektor Zeitschriftenartikel Druckschrift
2010 Das Graduiertenkolleg dIEM oSiRiS: Traditio et innovatio : Forschungsmagazin der Universität Rostock. - Rostock : Univ., Der Rektor Zeitschriftenartikel Druckschrift
2010 Expression of seven members of the ADAM family in developing chicken spinal cord: Developmental dynamics : an official publication of the American Association of Anatomists. - New York, NY [u.a.] : Wiley-Liss Zeitschriftenartikel Druckschrift
2010 Novel indolylmaleimide acts as GSK-3b inhibitor in human neural progenitor cells: Bioorganic & medicinal chemistry : a Tetrahedron publication for the rapid dissemination of full original research papers and critical reviews on biomolecular chemistry, medicinal chemistry and related disciplines. - Amsterdam [u.a.] : Elsevier Zeitschriftenartikel Druckschrift
2011 Small molecule GSK-3 inhibitors increase neurogenesis of human neural progenitor cells: Neuroscience letters. - Amsterdam : Elsevier Zeitschriftenartikel Druckschrift
2011 Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT): Molecular genetics and metabolism. - Amsterdam [u.a.] : Elsevier Zeitschriftenartikel Druckschrift
2011 Persistent increase in cardiac troponin I in Fabry disease: BMC cardiovascular disorders, ISSN 1471-2261, ZDB-ID 2059859-2. - London : BioMed Central Zeitschriftenartikel Elektronische Ressource
2011 Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: European journal of neurology : the official journal of the European Federation of Neurological Societies. - Oxford : Blackwell Science Zeitschriftenartikel Druckschrift
2011 Morphological alterations of the cornea in the mouse model of niemann-pick disease type C1: Cornea : the journal of cornea and external disease. - Hagerstown, Md. : Lippincott Williams & Wilkins Zeitschriftenartikel Druckschrift
2011 Differential expression of the ADAMs in developing chicken retina: Development, growth & differentiation. - Richmond, Vic. : Blackwell Publ. Asia Zeitschriftenartikel Druckschrift
2011 Quantitative and dynamic expression profile of premature and active forms of the regional ADAM proteins during chicken brain development: Cellular & molecular biology letters : publication of the University of Wroclaw in association with Polish Society for Cell Biology. - Warsaw : Versita Zeitschriftenartikel Druckschrift
2011 Decreased expression of myelin gene regulatory factor in Niemann-Pick type C 1 mouse: Metabolic brain disease. - New York, NY : Springer Zeitschriftenartikel Druckschrift
2011 Zystein-aussparende Mutationen bei atypischen CADASIL Varianten - ein neues Krankheitsbild ? Dissertationsschrift Elektronische Ressource
2011 Zystein-aussparende Mutationen bei atypischen CADASIL Varianten - ein neues Krankheitsbild ? Dissertationsschrift Druckschrift
2011 Einfluss von Interferon-b auf den hyperpolarisationsaktivierten nicht-selektiven Kationen-Strom Ih Dissertationsschrift Druckschrift
2011 CAG repeats determine brain atrophy in spinocerebellar ataxia 17: PLoS one, ISSN 1932-6203, ZDB-ID 2267670-3. - Lawrence, Kan : PLoS Zeitschriftenartikel Elektronische Ressource
2011 Hereditary spastic paraplegia associated with axonal neuropathy: Journal of clinical neuromuscular disease. - Hagerstown, Md. : Lippincott Williams & Wilkins Zeitschriftenartikel Druckschrift
2011 Amygdalotrigeminal projection in the rat: Annals of anatomy : official organ of the Anatomische Gesellschaft. - München : Elsevier Zeitschriftenartikel Druckschrift
2011 Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation: European journal of paediatric neurology : official journal of the European Paediatric Neurology Society ; ejpn. - Oxford [u.a.] : Elsevier Zeitschriftenartikel Druckschrift
2011 Regional expression of ADAM19 during chicken embryonic development: Development, growth & differentiation. - Richmond, Vic. : Blackwell Publ. Asia Zeitschriftenartikel Druckschrift
2011 Differential regional expression of multiple ADAMs during feather bud formation: Developmental dynamics : an official publication of the American Association of Anatomists. - New York, NY [u.a.] : Wiley-Liss Zeitschriftenartikel Druckschrift
2011 An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech: Movement disorders : official journal of the Movement Disorder Society. - Hoboken, NJ : Wiley-Blackwell Zeitschriftenartikel Druckschrift
2011 Corneal alterations during combined therapy with cyclodextrin/allopregnanolone and miglustat in a knock-out mouse model of NPC1 disease: PLoS one, ISSN 1932-6203, ZDB-ID 2267670-3. - Lawrence, Kan : PLoS Zeitschriftenartikel Elektronische Ressource
2011 Quantitative and kinetic profile of Wnt/b-catenin signaling components during human neural progenitor cell differentiation: Cellular & molecular biology letters : publication of the University of Wroclaw in association with Polish Society for Cell Biology. - Warsaw : Versita Zeitschriftenartikel Druckschrift
2012 Cultivation of human neural progenitor cells in a 3-dimensional self-assembling peptide hydrogel: JoVE, ISSN 1940-087X, ZDB-ID 2259946-0. - [S.l.] Zeitschriftenartikel Elektronische Ressource
2012 Orexinergic innervation of the extended amygdale and basal ganglia in the rat: Brain structure & function. - Berlin : Springer Zeitschriftenartikel Druckschrift
2012 Anatomical expression patterns of delta-protocadherins in developing chicken cochlea: Journal of anatomy. - Oxford : Blackwell Zeitschriftenartikel Druckschrift
2012 A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype: Acta paediatrica : nurturing the child. - Oxford : Wiley-Blackwell Zeitschriftenartikel Druckschrift
2012 Increased excitability and compromised long-term potentiation in the neocortex of NPC1 -/- mice: Brain research : internat. multidisciplinary journal devoted to fundamental research in the brain sciences. - Amsterdam : Elsevier Zeitschriftenartikel Druckschrift
2012 Human neural progenitor cells show functional neuronal differentiation and regional preference after engraftment onto hippocampal slice cultures: Stem cells and development. - Larchmont, NY : Liebert Zeitschriftenartikel Druckschrift
2012 PET and MRI reveal early evidence of neurodegeneration in spinocerebellar ataxia type 17: Journal of nuclear medicine : JNM ; official publ. of the Society of Nuclear Medicine. - Reston, Va. : SNM Zeitschriftenartikel Druckschrift
2012 Autosomal dominant Parkinson's disease in a large German pedigree: Acta neurologica Scandinavica. - Oxford : Blackwell Munksgaard Zeitschriftenartikel Druckschrift
2012 Survival of transplanted human neural stem cell line (ReNcell VM) into the rat brain with and without immunosuppression: Annals of anatomy : official organ of the Anatomische Gesellschaft. - München : Elsevier Zeitschriftenartikel Druckschrift
2012 Kidney function and white matter disease in young stroke patients: Stroke : a journal of cerebral circulation. - Baltimore, MD : Lippincott Williams & Wilkins Zeitschriftenartikel Druckschrift
2012 Elucidating the sources of b-catenin dynamics in human neural progenitor cells: PLoS one, ISSN 1932-6203, ZDB-ID 2267670-3. - Lawrence, Kan : PLoS Zeitschriftenartikel Elektronische Ressource
2012 Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene: Clinical kidney journal : CKJ ; official publication of the European Renal Association, European Dialysis and Transplant Association. - Oxford [u.a.] : Oxford Univ. Press Zeitschriftenartikel Druckschrift
2012 Comparison of three forms of teaching: International journal of dental hygiene : official journal of the International Federation of Dental Hygienists (IFDH). - Frederiksberg : Wiley Zeitschriftenartikel Druckschrift
2012 Diagnostic difficulties in Krabbe disease: Folia neuropathologica. - Warszawa : Medical Publ. House Zeitschriftenartikel Druckschrift
2012 Besonderheiten des Natriumionenstromes multipotenter striataler Progenitorzellen Dissertationsschrift Druckschrift
2013 Glucocerebrosidase mutations in a Serbian Parkinson's disease population: European journal of neurology : the official journal of the European Federation of Neurological Societies. - Oxford : Blackwell Science Zeitschriftenartikel Druckschrift
2013 Lifestyle risk factors for ischemic stroke and transient ischemic attack in young adults in the stroke in Young Fabry Patients study: Stroke : a journal of cerebral circulation. - Baltimore, MD : Lippincott Williams & Wilkins Zeitschriftenartikel Druckschrift
2013 Acute cerebrovascular disease in the young: Stroke : a journal of cerebral circulation. - Baltimore, MD : Lippincott Williams & Wilkins Zeitschriftenartikel Druckschrift
2013 Multifocal white matter lesions associated with the D313Y mutation of the α-galactosidase A Gene: PLoS one. - Lawrence, Kan : PLoS Zeitschriftenartikel Elektronische Ressource
2013 Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome: Human mutation : variation, databases, and disease. - Hoboken, NJ : Wiley-Blackwell Zeitschriftenartikel Druckschrift
2013 Spontaneous calcium transients in human neural progenitor cells mediated by transient receptor potential channels: Stem cells and development. - Larchmont, NY : Liebert Zeitschriftenartikel Druckschrift
2013 Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease: PLoS Genetics : a peer-reviewed, open-access journal. - San Francisco, Calif : Public Library of Science Zeitschriftenartikel Elektronische Ressource
2013 Headache as a symptom at stroke onset in 4,431 young ischaemic stroke patients. Results from the "stroke in young fabry patients (SIFAP1) study": Journal of neural transmission : basic neurosciences and genetics, Parkinson's disease and allied conditions, Alzheimer's disease and related disorders, biological psychiatry ; official journal of the European Society for Clinical Neuropharmacology. - Wien [u.a.] : Springer Zeitschriftenartikel Druckschrift
2013 Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia: Journal of neurology : official journal of the European Neurological Society. - Heidelberg : Springer-Medizin-Verl Zeitschriftenartikel Druckschrift
2013 Clinical, genetic, and brain sonographic features related to Parkinson's disease in Gaucher disease: Journal of neurology : official journal of the European Neurological Society. - Heidelberg : Springer-Medizin-Verl Zeitschriftenartikel Druckschrift
2013 Novel mutations in FA2H-Associated neurodegeneration: Journal of child neurology : JCN ; an interdisciplinary forum for child neurology and developmental. - Thousand Oaks, Calif : Sage Zeitschriftenartikel Druckschrift
2013 Infusionsbehandlung in häuslicher Umgebung: Deutsche medizinische Wochenschrift : DMW : Organ der Deutschen Gesellschaft für Innere Medizin (DGIM) : Organ der Gesellschaft Deutscher Naturforscher und Ärzte (GDNÄ), ISSN 0012-0472, ZDB-ID 200446-x. - Stuttgart : Thieme Zeitschriftenartikel Druckschrift
2013 MRI in acute cerebral ischemia of the young: Neurology : official journal of the American Academy of Neurology. - Hagerstown, Md : Lippincott Williams & Wilkins Zeitschriftenartikel Druckschrift
2013 Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in gaucher disease in a non-jewish, caucasian cohort of gaucher disease patients: PLoS one. - Lawrence, Kan : PLoS Zeitschriftenartikel Elektronische Ressource
2013 Olfactory deficits in Niemann-Pick type C1 (NPC1) disease: PLoS one. - Lawrence, Kan : PLoS Zeitschriftenartikel Elektronische Ressource
2013 Interference of a novel indolylmaleimide with microtubules induces mitotic arrest and apoptosis in human progenitor and cancer cells Zeitschriftenartikel Druckschrift
2013 Differentiation and survival of human neural progenitor cells in 3D scaffolds of self-assembling peptide hydrogels Dissertationsschrift Druckschrift
2013 Differentiation and survival of human neural progenitor cells in 3D scaffolds of self-assembling peptide hydrogels Dissertationsschrift Elektronische Ressource
2014 Palladium-catalyzed carbonylative transformations of bromhexine into bioactive compounds as glucocerebrosidase inhibitors: European journal of organic chemistry : EurJOC. - Weinheim : Wiley-VCH Verl Zeitschriftenartikel Druckschrift
2014 ADAM10 negatively regulates neuronal differentiation during spinal cord development: PLoS one. - Lawrence, Kan : PLoS Zeitschriftenartikel Elektronische Ressource
2014 Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker: The journal of clinical investigation : JCI ; the publication of the American Society for Clinical Investigation. - Ann Arbor, Mich : American Society for Clinical Investigation Zeitschriftenartikel Druckschrift
2014 Continuous cardiac troponin I release in fabry disease: PLoS one. - Lawrence, Kan : PLoS Zeitschriftenartikel Elektronische Ressource
2014 Lessons from everyday stroke care for clinical research and vice versa: BMC neurology. - London : BioMed Central Zeitschriftenartikel Elektronische Ressource
2014 Gene mutations versus clinically relevant phenotypes Lyso-Gb3 defines fabry disease: Circulation / Cardiovascular genetics. - Hagerstown, Md. : Lippincott Williams & Wilkins Zeitschriftenartikel Druckschrift
2014 HES5 is a key mediator of wnt-3a-induced neuronal differentiation: Stem cells and development. - Larchmont, NY : Liebert Zeitschriftenartikel Druckschrift
2014 Aberrant expressions of delta-protocadherins in the brain of Npc1 mutant mice: Histology and histopathology. - Murcia : Gutenberg Zeitschriftenartikel Druckschrift
2014 Unraveling cellular phenotypes of Novel TorsinA/TOR1A mutations: Human mutation : variation, databases, and disease. - Hoboken, NJ : Wiley-Blackwell Zeitschriftenartikel Druckschrift
2014 Nanog expression in heart tissues induced by acute myocardial infarction: Histology and histopathology. - Murcia : Gutenberg Zeitschriftenartikel Druckschrift
2014 Clinical signs in young patients with stroke related to FAST: BMJ open. - London : BMJ Publishing Group Zeitschriftenartikel Elektronische Ressource
2014 Generierung, Charakterisierung und neurale Differenzierung von humanen induzierten pluripotenten Stammzellen Dissertationsschrift Druckschrift
2014 Die antineoplastische Potenz des Indolylmaleimids PDA66 Dissertationsschrift Elektronische Ressource
2014 Die antineoplastische Potenz des Indolylmaleimids PDA66 Dissertationsschrift Druckschrift
2014 Generierung, Charakterisierung und neurale Differenzierung von humanen induzierten pluripotenten Stammzellen Dissertationsschrift Elektronische Ressource
2015 Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs: European journal of paediatric neurology : official journal of the European Paediatric Neurology Society ; ejpn. - Oxford [u.a.] : Elsevier Zeitschriftenartikel Druckschrift
2015 Reduced cerebellar neurodegeneration after combined therapy with cyclodextrin/allopregnanolone and miglustat in NPC1: Journal of neuroscience research. - New York, NY [u.a.] : Wiley-Liss Zeitschriftenartikel Druckschrift
2015 Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer: The journal of molecular diagnostics. - New York, NY : Elsevier Zeitschriftenartikel Druckschrift
2015 Enzyme enhancers for the treatment of fabry and Pompe disease: Molecular therapy : the journal of the American Society of Gene Therapy. - New York, NY : Nature Publishing Group Zeitschriftenartikel Druckschrift
2015 Clinically relevant depressive symptoms in young stroke patients: Neuroepidemiology : official publication of the World Federation of Neurology, Research Committee on Neuroepidemiology. - Basel : Karger Zeitschriftenartikel Druckschrift
2015 Brain magnetic resonance imaging findings fail to suspect fabry disease in young patients with an acute cerebrovascular event: Stroke : a journal of cerebral circulation. - Baltimore, MD : Lippincott Williams & Wilkins Zeitschriftenartikel Druckschrift
2015 A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease: Orphanet journal of rare diseases : OJRD. - London : BioMed Central Zeitschriftenartikel Elektronische Ressource
2015 Indications for gliosis in Niemann-Pick type C1 patient-specific iPSC derived glia cells: Glia. - Hoboken, NJ : Wiley-Blackwell Zeitschriftenartikel Druckschrift
2015 Family history in young patients with stroke: Stroke : a journal of cerebral circulation. - Baltimore, MD : Lippincott Williams & Wilkins Zeitschriftenartikel Druckschrift
2015 Diagnosis of morquio syndrome in dried blood spots based on a new MRM-MS assay: PLoS one. - Lawrence, Kan : PLoS Zeitschriftenartikel Elektronische Ressource
2015 Heritability of young- and old-onset ischaemic stroke: European journal of neurology : the official journal of the European Federation of Neurological Societies. - Oxford : Blackwell Science Zeitschriftenartikel Druckschrift
2015 Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations: The journal of clinical investigation : JCI ; the publication of the American Society for Clinical Investigation. - Ann Arbor, Mich : American Society for Clinical Investigation Zeitschriftenartikel Druckschrift
2015 Phenotypic ASCO characterisation of young patients with Ischemic Stroke in the prospective multicentre observational sifap1 study: Cerebrovascular diseases. - Basel : Karger Zeitschriftenartikel Druckschrift
2015 Arylindolylmalemide PDA-66 and Its derivate PDA-377 show antiproliferative effects on B-cell non-Hodgkin lymphoma cell lines with MYC and BCL rearrangements: Oncology research and treatment. - Basel : Karger Zeitschriftenartikel Druckschrift
2016 Functional and clinical consequences of novel -galactosidase a mutations in fabry disease: Human mutation : variation, databases, and disease. - Hoboken, NJ : Wiley-Blackwell Zeitschriftenartikel Druckschrift
2016 Broadening the phenotypic spectrum of pathogenic LARP7 variants: Journal of human genetics : official journal of the Japan Society of Human Genetics. - Avenel, NJ : Nature Publ. Group Zeitschriftenartikel Druckschrift
2016 Characterization of the novel indolylmaleimides' PDA-66 and PDA-377 effect on canine lymphoma cells: OncoTarget : open access impact journal. - [S.l.] : Impact Journals LLC Zeitschriftenartikel Elektronische Ressource
2016 4-Aminopyridine induced activity rescues hypoexcitable motor neurons from amyotrophic lateral sclerosis patient-derived induced pluripotent stem cells: Stem cells : the international journal of cell differentiation and proliferation. - Hoboken, NJ : Wiley-Blackwell Zeitschriftenartikel Elektronische Ressource
2016 Cardiac Troponin I: PLoS one. - Lawrence, Kan : PLoS Zeitschriftenartikel Elektronische Ressource
2016 Frequency and predictors of acute ischaemic lesions on brain magnetic resonance imaging in young patients with a clinical diagnosis of transient ischaemic attack: European journal of neurology : the official journal of the European Federation of Neurological Societies. - Oxford : Blackwell Science Zeitschriftenartikel Druckschrift
2016 Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism: Cellular and molecular life sciences : (CMLS). - Basel : Birkhäuser Zeitschriftenartikel Elektronische Ressource
2016 A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy: Clinical genetics : an international journal of genetics in medicine. - Oxford : Wiley-Blackwell Zeitschriftenartikel Druckschrift
2016 Identification of an allosteric binding site on Human Lysosomal Alpha-Galactosidase opens the way to new pharmacological chaperones for fabry disease: PLoS one. - Lawrence, Kan : PLoS Zeitschriftenartikel Elektronische Ressource
2016 Pharmacologic treatment assigned for Niemann pick type C1 disease partly changes behavioral traits in Wild-Type mice: International journal of molecular sciences. - Basel : Molecular Diversity Preservation International Zeitschriftenartikel Elektronische Ressource
2016 Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick Disease type C: American journal of medical genetics / A. - Hoboken, NJ : Wiley-Liss Zeitschriftenartikel Druckschrift
2016 Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia: Cellular & molecular biology letters : publication of the University of Wroclaw in association with Polish Society for Cell Biology. - [Berlin] : [De Gruyter] Zeitschriftenartikel Druckschrift
2017 Patent foramen ovale and cryptogenic strokes in the stroke in young fabry patients study: Stroke : a journal of cerebral circulation. - Baltimore, MD : Lippincott Williams & Wilkins Zeitschriftenartikel Druckschrift
2017 "In vitro" enzyme measurement to test pharmacological chaperone responsiveness in fabry and pompe disease: JoVE, ISSN 1940-087X, ZDB-ID 2259946-0. - [S.l.] Zeitschriftenartikel Elektronische Ressource
2017 Glucosylsphingosine causes hematological and visceral changes in mice - evidence for a pathophysiological role in Gaucher disease: International journal of molecular sciences, ISSN 1422-0067, ZDB-ID 20193646. - Basel : Molecular Diversity Preservation International Zeitschriftenartikel Elektronische Ressource
2017 Increased regenerative capacity of the olfactory epithelium in NiemannPick disease type C1: International journal of molecular sciences, ISSN 1422-0067, ZDB-ID 20193646. - Basel : Molecular Diversity Preservation International Zeitschriftenartikel Elektronische Ressource
2017 Dataset in support of the generation of Niemann-Pick disease Type C1 patient-specific iPS cell lines carrying the novel NPC1 mutation c.1180T>C or the prevalent c.3182T>C mutation: Data in Brief, ISSN 2352-3409, ZDB-ID 27865459. - Amsterdam [u.a.] : Elsevier Zeitschriftenartikel Elektronische Ressource
2017 17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: BMC medical genetics, ISSN 1471-2350, ZDB-ID 2041359-2. - London : BioMed Central Zeitschriftenartikel Elektronische Ressource
2017 Decreased calcium flux in Niemann-Pick type C1 patient-specific iPSC-derived neurons due to higher amount of calcium-impermeable AMPA receptors: Molecular and cellular neuroscience : MCN, ISSN 1095-9327, ZDB-ID 1471177-1. - San Diego, Calif : Elsevier Zeitschriftenartikel Elektronische Ressource
2017 Fluorescent probes for selective protein labeling in lysosomes: a case of -galactosidase A Zeitschriftenartikel Elektronische Ressource
2018 Genetics of the thrombomodulin-endothelial cell protein C receptor system and the risk of early-onset ischemic stroke: PLOS ONE, ISSN 1932-6203, ZDB-ID 2267670-3. - San Francisco, California, US : PLOS Zeitschriftenartikel Elektronische Ressource
2018 Altered myelination in the Niemann-Pick type C1 mutant mouse: Histology and histopathology, ISSN 0213-3911, ZDB-ID 839115. - Murcia : Gutenberg Zeitschriftenartikel Druckschrift
2018 GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes: Nature Communications, ISSN 2041-1723, ZDB-ID 2553671-0. - [London] : Nature Publishing Group UK Zeitschriftenartikel Elektronische Ressource
2018 A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay Zeitschriftenartikel Elektronische Ressource
2018 Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) Zeitschriftenartikel Elektronische Ressource
2018 Dose-dependent effect of enzyme replacement therapy on neutralizing antidrug antibody titers and clinical outcome in patients with Fabry disease Zeitschriftenartikel Elektronische Ressource
2018 Effects of group I metabotropic glutamate receptors on internalization of AMPA receptors in NPC1 mutant mouse Dissertationsschrift Druckschrift
2018 Sensorbasiertes Monitoring bei Alzheimer-Demenz Dissertationsschrift Druckschrift
2018 Sensorbasiertes Monitoring bei Alzheimer-Demenz Dissertationsschrift Elektronische Ressource
2018 Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes Zeitschriftenartikel Elektronische Ressource
2018 Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability Zeitschriftenartikel Elektronische Ressource
2018 Lovastatin promotes myelin formation in NPC1 mutant oligodendrocytes Zeitschriftenartikel Elektronische Ressource
2018 Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features Zeitschriftenartikel Elektronische Ressource
2018 Expanding the clinical and genetic spectra of NKX6-2-related disorder Zeitschriftenartikel Elektronische Ressource
2019 Genotype-phenotype correlation in a new Fabry-disease-causing mutation Zeitschriftenartikel Elektronische Ressource
2019 Off-label treatment of 4 amyotrophic lateral sclerosis patients with 4-aminopyridine Zeitschriftenartikel Elektronische Ressource
2019 Role of endoplasmic reticulum stress and protein misfolding in disorders of the liver and pancreas Zeitschriftenartikel Elektronische Ressource
2021 Impairment of mitochondrial oxidative phosphorylation in skin fibroblasts of SALS and FALS patients is rescued by in vitro treatment with ROS scavengers Zeitschriftenartikel Elektronische Ressource
2021 Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis Zeitschriftenartikel Elektronische Ressource
2021 Functional and molecular properties of dyt-sgce myoclonus-dystonia patient-derived striatal medium spiny neurons Zeitschriftenartikel Elektronische Ressource
2021 A nation-wide, multi-center study on the quality of life of ALS patients in Germany Zeitschriftenartikel Elektronische Ressource