A. Papandreou

发表

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Hagai Bergman, Dagmar Wieczorek, Zvi Israel, 2016, Nature Genetics.

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy

R. Scott, M. Kurian, E. Meyer, 2015, Developmental medicine and child neurology.

The expanding spectrum of movement disorders in genetic epilepsies

M. Kurian, A. Papandreou, V. Leuzzi, 2019, Developmental medicine and child neurology.

Physiological Adaptations to High-Intensity Interval and Continuous Training in Kayak Athletes.

A. Papandreou, E. Zacharogiannis, M. Maridaki, 2020, Journal of strength and conditioning research.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

D. Grozeva, Hiromi Hirata, R. Guerreiro, 2022, Movement disorders : official journal of the Movement Disorder Society.

Familial recurrences of FOXG1‐related disorder: Evidence for mosaicism

R. Scott, W. Dobyns, G. Mirzaa, 2015, American journal of medical genetics. Part A.

An unusual presentation of paediatric Listeria meningitis with selective spinal grey matter involvement and acute demyelinating polyneuropathy.

W. Chong, A. Papandreou, S. Bhate, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders

Y. Crow, P. Hogarth, S. Rahman, 2020, Brain communications.

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

M. King, M. Kurian, E. Meyer, 2018, Journal of Inherited Metabolic Disease.

An LC–MS/MS-Based Method for the Quantification of Pyridox(am)ine 5′-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy

K. Mills, P. Clayton, S. Heales, 2017, Analytical chemistry.

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

I. Scheffer, J. Cross, J. Cross, 2018, Neurology.

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease

Paul Gissen, A. Papandreou, P. Gissen, 2016, Therapeutic advances in neurological disorders.

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

T. Jacques, W. Yue, S. Rahman, 2016, Brain : a journal of neurology.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Monoamine neurotransmitter disorders—clinical advances and future perspectives

S. Heales, M. Kurian, A. Papandreou, 2015, Nature Reviews Neurology.

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

J. Hurst, R. Scott, H. Brittain, 2016, Journal of Medical Genetics.

Clinical Reasoning: A Teenage Girl With Progressive Hyperkinetic Movements, Seizures, and Encephalopathy

A. Siddiqui, Jean-Pierre Lin, Saraswathy Sabanathan, 2022, Neurology.

Niemann–Pick type C disease as proof‐of‐concept for intelligent biomarker panel selection in neurometabolic disorders

W. Heywood, K. Mills, M. Kurian, 2022, Developmental medicine and child neurology.

Update in Neurodegeneration with Brain Iron Accumulation: Advances in Molecular Diagnosis and Treatment Strategies

A. Rahim, M. Kurian, W. Chong, 2015, Journal of Pediatric Neurology.

Delineation of the movement disorders associated with FOXG1 mutations

J. Hurst, R. Scott, F. Elmslie, 2016, Neurology.

The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders

F. Muntoni, S. Yılmaz, P. Munot, 2022, Movement disorders : official journal of the Movement Disorder Society.

Correction: Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

D. Grozeva, H. Bergman, D. Arkadir, 2017, Nature Genetics.

Bi-allelic variants in TSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia

G. Carvill, T. Südhof, Christian Rosenmund, 2020, bioRxiv.

Automated high-content imaging in iPSC-derived neuronal progenitors

R. Ketteler, J. Kriston-Vizi, M. Kurian, 2023, SLAS discovery : advancing life sciences R & D.

Expanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration

M. Kurian, A. Papandreou, R. Spaull, 2022, American Journal of Neuroradiology.

A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?

S. Thobois, R. Escalante, Ludivine Walter, 2023, Autophagy.

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

D. Grozeva, H. Bergman, D. Arkadir, 2016, Nature Genetics.