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Metabolic patterns in brain 18F-fluorodeoxyglucose PET relate to aetiology in paediatric dystonia.
Published in:
2023
By:
- Tsagkaris, Stavros;
- Yau, Eric K C;
- McClelland, Verity;
- Papandreou, Apostolos;
- Siddiqui, Ata;
- Lumsden, Daniel E;
- Kaminska, Margaret;
- Guedj, Eric;
- Hammers, Alexander;
- Lin, Jean-Pierre
Publication type:
journal article
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Published in:
2016
By:
- Reid, Emma S.;
- Papandreou, Apostolos;
- Drury, Suzanne;
- Boustred, Christopher;
- Yue, Wyatt W.;
- Wedatilake, Yehani;
- Beesley, Clare;
- Jacques, Thomas S.;
- Anderson, Glenn;
- Abulhoul, Lara;
- Broomfield, Alex;
- Cleary, Maureen;
- Grunewald, Stephanie;
- Varadkar, Sophia M.;
- Lench, Nick;
- Rahman, Shamima;
- Gissen, Paul;
- Clayton, Peter T.;
- Mills, Philippa B.
Publication type:
journal article
Familial Recurrences of FOXG1-Related Disorder: Evidence for Mosaicism.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3096, doi. 10.1002/ajmg.a.37353
By:
- McMahon, Kelly Q.;
- Papandreou, Apostolos;
- Ma, Mandy;
- Barry, Brenda J.;
- Mirzaa, Ghayda M.;
- Dobyns, William B.;
- Scott, Richard H.;
- Trump, Natalie;
- Kurian, Manju A.;
- Paciorkowski, Alex R.
Publication type:
Article
COL4A1 mutations should not be a contraindication for epilepsy surgery.
Published in:
Child's Nervous System, 2014, v. 30, n. 8, p. 1467, doi. 10.1007/s00381-014-2440-5
By:
- Papandreou, Apostolos;
- Tisdall, Martin;
- Chong, WK;
- Cross, J;
- Harkness, William;
- Varadkar, Sophia
Publication type:
Article
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
Published in:
2016
By:
- Papandreou, Apostolos;
- McTague, Amy;
- Trump, Natalie;
- Ambegaonkar, Gautam;
- Ngoh, Adeline;
- Meyer, Esther;
- Scott, Richard H;
- Kurian, Manju A
Publication type:
journal article
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
Published in:
2021
By:
- Mencacci, Niccolò E.;
- Brockmann, Marisa M.;
- Jinye Dai;
- Pajusalu, Sander;
- Atasu, Burcu;
- Campos, Joaquin;
- Pino, Gabriela;
- Gonzalez-Latapi, Paulina;
- Patzke, Christopher;
- Schwake, Michael;
- Tucci, Arianna;
- Pittman, Alan;
- Simon-Sanchez, Javier;
- Carvill, Gemma L.;
- Balint, Bettina;
- Wiethoff, Sarah;
- Warner, Thomas T.;
- Papandreou, Apostolos;
- Ker Shin Soo, Audrey;
- Rein, Reet
Publication type:
journal article
Niemann-Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders.
Published in:
Developmental Medicine & Child Neurology, 2022, v. 64, n. 12, p. 1539, doi. 10.1111/dmcn.15334
By:
- Papandreou, Apostolos;
- Doykov, Ivan;
- Spiewak, Justyna;
- Komarov, Nikita;
- Habermann, Stephanie;
- Kurian, Manju A.;
- Mills, Philippa B.;
- Mills, Kevin;
- Gissen, Paul;
- Heywood, Wendy E.;
- Clinical cohort recruitment and characterization group
Publication type:
Article
The expanding spectrum of movement disorders in genetic epilepsies.
Published in:
2020
By:
- Papandreou, Apostolos;
- Danti, Federica Rachele;
- Spaull, Robert;
- Leuzzi, Vincenzo;
- Mctague, Amy;
- Kurian, Manju A
Publication type:
journal article
The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders.
Published in:
Movement Disorders, 2022, v. 37, n. 11, p. 2197, doi. 10.1002/mds.29182
By:
- Pérez‐Dueñas, Belén;
- Gorman, Kathleen;
- Marcé‐Grau, Anna;
- Ortigoza‐Escobar, Juan D.;
- Macaya, Alfons;
- Danti, Federica R.;
- Barwick, Katy;
- Papandreou, Apostolos;
- Ng, Joanne;
- Meyer, Esther;
- Mohammad, Shekeeb S.;
- Smith, Martin;
- Muntoni, Francesco;
- Munot, Pinki;
- Uusimaa, Johanna;
- Vieira, Päivi;
- Sheridan, Eammon;
- Guerrini, Renzo;
- Cobben, Jan;
- Yilmaz, Sanem
Publication type:
Article
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Published in:
Movement Disorders, 2022, v. 37, n. 10, p. 2139, doi. 10.1002/mds.29147
By:
- Reid, Kimberley M.;
- Spaull, Robert;
- Salian, Smrithi;
- Barwick, Katy;
- Meyer, Esther;
- Zhen, Juan;
- Hirata, Hiromi;
- Sheipouri, Diba;
- Benkerroum, Hind;
- Gorman, Kathleen M.;
- Papandreou, Apostolos;
- Simpson, Michael A.;
- Hirano, Yoshinobu;
- Farabella, Irene;
- Topf, Maya;
- Grozeva, Detelina;
- Carss, Keren;
- Smith, Martin;
- Pall, Hardev;
- Lunt, Peter
Publication type:
Article
Diagnostic workup and management of patients with suspected Niemann-Pick type C disease.
Published in:
Therapeutic Advances in Neurological Disorders, 2016, v. 9, n. 3, p. 216, doi. 10.1177/1756285616635964
By:
- Papandreou, Apostolos;
- Gissen, Paul
Publication type:
Article
New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 12, p. 10177, doi. 10.3390/ijms241210177
By:
- Spiewak, Justyna;
- Doykov, Ivan;
- Papandreou, Apostolos;
- Hällqvist, Jenny;
- Mills, Philippa;
- Clayton, Peter T.;
- Gissen, Paul;
- Mills, Kevin;
- Heywood, Wendy E.
Publication type:
Article

Found: 12