Search Results - "Assmann, Birgit"

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Authors: Zech, Michael Dzinovic, Ivana Skorvanek, Matej et al.

Source: Brain: A Journal of Neurology; Aug2025, Vol. 148 Issue 8, p2827-2846, 20p

Glucose Transporter Type 1 Deficiency Syndrome with Carbohydrate-Responsive Symptoms but without Epilepsy

Authors: Koy, Anne Assmann, Birgit Klepper, Joerg et al.

Source: Developmental Medicine & Child Neurology. Dec 2011 53(12):1154-1156.

Peer Reviewed: Y

Page Count: 3

Descriptors: Intelligence, Epilepsy, Dietetics, Developmental Delays, Motor Development, Cognitive Development, Metabolism, Physical Disabilities, Human Body, Females, Young Children, Psychomotor Skills, Child Development, Genetics, Visual Perception, Spatial Ability, Speech Skills

Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.

Authors: Evers, Christina Seitz, Angelika Assmann, Birgit et al.

Source: American Journal of Medical Genetics. Part A; Jul2017, Vol. 173 Issue 7, p1878-1886, 9p

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Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.

Authors: Saparov, Alice Dzinovic, Ivana Brunet, Theresa et al.

Source: Annals of Neurology. Jun2026, Vol. 99 Issue 6, p1363-1378. 16p.

β-Ureidopropionase Deficiency Presenting with Febrile Status Epilepticus.

Authors: Assmann, Birgit E. Kuilenburg, Andre B. P. Distelmaier, Felix et al.

Source: Epilepsia (Series 4). Jan2006, Vol. 47 Issue 1, p215-217. 3p. 1 Black and White Photograph.

Subjects: Febrile seizures, Seizures (Medicine), Neurological disorders, Epilepsy, People with epilepsy, Uracil, Thymine, Diagnostic imaging

Early-onset phenotype of bi-allelic GRN mutations.

Authors: Neuray, Caroline Sultan, Tipu Alvi, Javeira Raza et al.

Source: Brain: A Journal of Neurology; Feb2021, Vol. 144 Issue 2, pe22-e22, 1p

Obituary — Robert Surtees.

Authors: Assmann, Birgit Baethmann, Martina Voit, Thomas

Source: Neuropediatrics. Oct2007, Vol. 38 Issue 5, p265-266. 2p. 1 Black and White Photograph.

Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment.

Authors: Brennenstuhl, Heiko Jung-Klawitter, Sabine Assmann, Birgit et al.

Source: Neuropediatrics. 2019, Vol. 50 Issue 1, p2-14. 13p.

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

Authors: Harting, Inga Neumaier-Probst, Eva Seitz, Angelika et al.

Source: Brain: A Journal of Neurology; Jul2009, Vol. 132 Issue 7, p1764-1764, 1p

Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.

Authors: Brennenstuhl, Heiko Didiasova, Miroslava Assmann, Birgit et al.

Source: International Journal of Molecular Sciences. 11/15/2020, Vol. 21 Issue 22, p8578. 1p.

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Authors: Opladen, Thomas López-Laso, Eduardo Cortès-Saladelafont, Elisenda et al.

Source: Orphanet Journal of Rare Diseases. 8/5/2020, Vol. 15 Issue 1, p1-5. 5p.

Syringomyelia in preterm children with posthemorrhagic occlusive hydrocephalus.

Authors: Weinzierl, Martin Honnef, Dagmar Assmann, Birgit et al.

Source: Child's Nervous System. Dec2012, Vol. 28 Issue 12, p2153-2156. 4p.

Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I

Authors: Thimm, Eva Herebian, Diran Assmann, Birgit et al.

Source: Molecular Genetics & Metabolism. Feb2011, Vol. 102 Issue 2, p122-125. 4p.

Sepiapterin Reductase Deficiency: Clinical Presentation and Evaluation of Long-Term Therapy

Authors: Echenne, Bernard Roubertie, Agathe Assmann, Birgit et al.

Source: Pediatric Neurology. Nov2006, Vol. 35 Issue 5, p308-313. 6p.

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.

Authors: Wassenberg, Tessa Molero-Luis, Marta Jeltsch, Kathrin et al.

Source: Orphanet Journal of Rare Diseases. 1/18/2017, Vol. 12, p1-21. 21p.

β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.

Authors: Dobritzsch, Doreen Meijer, Judith Meinsma, Rutger et al.

Source: Molecular Genetics & Metabolism. Jul2022, Vol. 136 Issue 3, p177-185. 9p.

Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!

Authors: Klein, Christine Lang, Anthony van de Warrenburg, Bart P. et al.

Source: Movement Disorders. Nov2016, Vol. 31 Issue 11, p1760-1762. 4p.

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.

Authors: Marras, Connie Lang, Anthony van de Warrenburg, Bart P. et al.

Source: Movement Disorders. Apr2016, Vol. 31 Issue 4, p436-457. 24p.

Disruption of SOX6 Is Associated With a Rapid-Onset Dopa-Responsive Movement Disorder, Delayed Development, and Dysmorphic Features.

Authors: Ebrahimi-Fakhari, Darius Maas, Bianca Haneke, Christian et al.

Source: Pediatric Neurology. Jan2015, Vol. 52 Issue 1, p115-118. 4p.