Birgit Assmann

3.5k citations

51 papers · 1.7k indexed · h-index 23

Clinical Biochemistry top 0.5%
- Metabolism and Genetic Disorders 21
Biochemistry top 2%
Neurology top 5%
- Neurological disorders and treatments 7
Cellular and Molecular Neuroscience top 5%
- Genetic Neurodegenerative Diseases 8
Neurology top 10%
- Neurological disorders and treatments 7
Molecular Biology
- Biochemical and Molecular Research 12
- Mitochondrial Function and Pathology 11
- Glycosylation and Glycoproteins Research 5
Pediatrics, Perinatology and Child Health
- Neonatal Health and Biochemistry 8
Rheumatology
- Folate and B Vitamins Research 4

Co-authors: Georg F. Hoffmann Ertan Mayatepek Stefan Kölker Thomas Opladen Johannes Zschocke Esther M. Maier Chris Mühlhausen Ron A. Wevers
Cited by: Clinical Biochemistry Biochemistry Neurology
Journals: Journal of Inherited Metabolic Disease (7 papers)Neuropediatrics (6 papers)Neurology (3 papers)
Partner nations: Germany Netherlands United States

In The Last Decade

Birgit Assmann

51 papers receiving 1.7k citations

Peers

Countries citing papers authored by Birgit Assmann

Since Specialization

Citations

This map shows the geographic impact of Birgit Assmann's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Birgit Assmann with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Birgit Assmann more than expected).

Fields of papers citing papers by Birgit Assmann

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Birgit Assmann. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Birgit Assmann. The network helps show where Birgit Assmann may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Birgit Assmann, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Birgit Assmann Line = papers co-authored together Birgit Assmann links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Genotype–phenotype correlation and treatment effects in young patients withGNAO1-associated disorders Journal of Neurology Neurosurgery & Psychiatry ·Benoît Virole,武徳岩田,Wibke G. Janzarik,Birgit Assmann,Simone Zittel,Steffi Patzer,Paul Peters,Umarr Rammat,政孝竹鶴,Andrea Bevot,Jürgen Seeger,Andreas van Baalen,Alfredo Bryan Alcedan Rodriguez,Knut Brockmann,Sebahattin Çırak,Anne Koy	2023	13
2	Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1 International Journal of Molecular Sciences ·Heiko Brennenstuhl,Miroslava Didiášová,Birgit Assmann,Mariarita Bertoldi,Gianluca Molla,Sabine Jung‐Klawitter,Oya Kuseyri Hübschmann,Julian Schröter,Thomas Opladen,Ritva Tikkanen	2020	5
3	Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia Journal of Human Genetics ·Hormos Salimi Dafsari,Rosanne Sprute,Gilbert Wunderlich,Tatuhiko Saito,Ezgi Karaca,Adriana Contreras‐Paredes,Kerstin Becker,Самойлин Евгений Александрович,Karl Kiening,Duy Phan,Manja Kloß,A Calvo,K. Amande M. Pauls,Peter Nürnberg,Janine Altmüller,Hölger Thiele,Birgit Assmann,Anne Koy,Sebahattin Çırak	2019	21
4	Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency Orphanet Journal of Rare Diseases ·Tessa Wassenberg,Marta Molero-Luís,Kathrin Jeltsch,Georg F. Hoffmann,Birgit Assmann,Nenad Blau,Ángeles García‐Cazorla,Rafael Artuch,Roser Pons,Toni S. Pearson,유건우,Mario Mastrangelo,Phillip L. Pearl,Wang‐Tso Lee,Manju A. Kurian,Simon Heales,Lisa Flint,Marcel M. Verbeek,Michèl A.A.P. Willemsen,Thomas Opladen	2017	156
5	Disruption of SOX6 Is Associated With a Rapid-Onset Dopa-Responsive Movement Disorder, Delayed Development, and Dysmorphic Features Pediatric Neurology ·Darius Ebrahimi‐Fakhari,张明宪,Vanessa de Souza Moreno,Tim Niehues,Katrin Hinderhofer,Birgit Assmann,Heiko Runz	2014	10
6	ß-Ureidopropionase deficiency: Phenotype, genotype and protein structural consequences in 16 patients Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ·André B. P. Kuilenburg,Doreen Dobritzsch,Judith Meijer,麻子越水,Laila Selim,Mohamed S. Rashed,Birgit Assmann,Rutger Meinsma,Bernhard Lohkamp,Tetsuya Ito,N. G. G. M. Abeling,Kayoko Saito,Phillip Gutierrez,Martin Smitka,Martin Engvall,Chunhua Zhang,Xu Wang,Lida Zoetekouw,Raoul C. M. Hennekam	2012	23
7	Severe Encephalopathy, Lactic Acidosis, Vegetative Instability and Neuropathy with 5-Fluorouracil Treatment – Pyrimidine Degradation Defect or Beriberi SHILAP Revista de lepidopterología ·Amanda Rosen,André B. P. Kuilenburg,Birgit Assmann,Michaela Kuhlen,Arndt Borkhardt	2011	5
8	Unilateral Facial Flushing and Sweating After Physical Exercise: Harlequin Syndrome Klinische Pädiatrie ·Hemmen Sabir,Nur Ira Rochanah,B. C. Kieseier,Ertan Mayatepek,Birgit Assmann	2011	6
9	Cerebral Angiopathies as a Cause of Ischemic Stroke in Children Deutsches Ärzteblatt international ·Hans‐Jakob Steiger,Daniel Hänggi,Birgit Assmann,Bernd Turowski	2010	6
10	Use of guidelines improves the neurological outcome in glutaric aciduria type I Annals of Neurology ·Jana Herınger,M. Nakano,Regina Ensenauer,Birgit Assmann,Johannes Zschocke,Inga Harting,Thomas Lücke,Esther M. Maier,Chris Mühlhausen,Gisela Haege,Georg F. Hoffmann,Peter Burgard,Stefan Kölker	2010	116
11	Sepiapterin Reductase Deficiency: Clinical Presentation and Evaluation of Long-Term Therapy Pediatric Neurology ·Bernard Échenne,Agathe Roubertie,Birgit Assmann,Thomas A. Lutz,Johann Penzien,Beat Thöny,Nenad Blau,Georg F. Hoffmann	2006	25
12	Pseudotumor cerebri as an important differential diagnosis of papilledema in children Brain and Development ·Felix Distelmaier,R.I.P. Wickramasinghe,P. Wiederhold,Birgit Assmann,Ertan Mayatepek,Thorsten Rosenbaum	2005	52
13	Synthesis and metabolism of leukotrienes in γ-glutamyl transpeptidase deficiency Journal of Lipid Research ·Ertan Mayatepek,Jürgen G. Okun,Thomas Meißner,Birgit Assmann,Judith Hammond,Johannes Zschocke,Wolf‐Dieter Lehmann	2004	19
14	Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia Annals of Neurology ·Georg F. Hoffmann,Birgit Assmann,Noy Rosenzweig,Carlo Dionisi‐Vici,Daniel Pérez Cuadrado,В.Д. Андрианов,Markus Naumann,Gerry C. H. Steenbergen‐Spanjers,Catalina Sayas,Ron A. Wevers	2003	89
15	Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia Annals of Neurology ·Birgit Assmann,Robert Surtees,Georg F. Hoffmann	2003	22
16	A New Subtype of a Congenital Disorder of Glycosylation (CDG) with Mild Clinical Manifestations Neuropediatrics ·Birgit Assmann,Joan Keizer,Verena Peters,P. V. Dovgalyuk,T Arndt,Ertan Mayatepek,J. Jaeken,Georg F. Hoffmann	2002	14
17	Congenital Disorder of Glycosylation IId (CDG-IId) - A New Entity: Clinical Presentation with Dandy-Walker Malformation and Myopathy Neuropediatrics ·Verena Peters,Johann Penzien,Gert Reiter,Christian Körner,Joan Keizer,Birgit Assmann,Justyna Legierska,Juergen R. Schaefer,Georg F. Hoffmann,P. Heidemann	2002	50
18	Selective Decrease in Central Nervous System Serotonin Turnover in Children with Dopa-Nonresponsive Dystonia Pediatric Research ·Birgit Assmann,Martin Köhler,Georg F. Hoffmann,Simon Heales,Robert Surtees	2002	11
19	Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features European Journal of Paediatric Neurology ·Martin Köhler,Birgit Assmann,Christa Bräutigam,Vanessa Triviño Álvarez,Sandrine Marie,M. F. Vincent,Jean El Kaady,Anne Simmonds,Georg F. Hoffmann	1999	35
20	cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding β-ureidopropionase Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression ·P. Vreken,André B. P. Kuilenburg,Naoki Hamajima,Rutger Meinsma,Henk van Lenthe,豊信山下,Birgit Assmann,Ron A. Wevers,Albert H. Gennip	1999	30

About Birgit Assmann

Birgit Assmann is a scholar working on Clinical Biochemistry, Neurology, Rheumatology, Cellular and Molecular Neuroscience and Neurology, having authored 51 papers that have together received 1.7k indexed citations. Recurring topics across this work include Metabolism and Genetic Disorders (21 papers), Biochemical and Molecular Research (12 papers), Mitochondrial Function and Pathology (11 papers), Neonatal Health and Biochemistry (8 papers), Genetic Neurodegenerative Diseases (8 papers), Neurological disorders and treatments (7 papers), Glycosylation and Glycoproteins Research (5 papers) and Folate and B Vitamins Research (4 papers). The work is most often cited by research in Clinical Biochemistry (789 citations), Biochemistry (250 citations), Neurology (342 citations), Cellular and Molecular Neuroscience (304 citations) and Neurology (118 citations). Birgit Assmann has collaborated with scholars based in Germany, Netherlands and United States. Frequent co-authors include Georg F. Hoffmann, Ertan Mayatepek, Stefan Kölker, Thomas Opladen, Johannes Zschocke, Esther M. Maier, Chris Mühlhausen, Ron A. Wevers, Inga Harting and Peter Burgard. Their work appears in journals such as Journal of Inherited Metabolic Disease, Neuropediatrics, Neurology, Pediatric Neurology and Annals of Neurology.

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