Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient
Christoforou, Stephanie, Christodoulou, Kyproula, Anastasiadou, Violetta, Nicolaides, Paola
Published in European journal of medical genetics (01.03.2020)
Published in European journal of medical genetics (01.03.2020)
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Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter
Batzios, Spyros, Tal, Galit, DiStasio, Andrew T, Peng, Yanyan, Charalambous, Christiana, Nicolaides, Paola, Kamsteeg, Erik-Jan, Korman, Stanley H, Mandel, Hanna, Steinbach, Peter J, Yi, Ling, Fair, Summer R, Hester, Mark E, Drousiotou, Anthi, Kaler, Stephen G
Published in Human molecular genetics (16.12.2022)
Published in Human molecular genetics (16.12.2022)
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OP004: Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter
Kaler, Stephen, Batzios, Spyros, Tal, Galit, DiStasio, Andrew, Peng, Yanyan, Charalambous, Christiana, Nicolaides, Paola, Kamsteeg, Erik-Jan, Korman, Stanley, Mandel, Hanna, Steinbach, Peter, Yi, Ling, Fair, Summer, Heste, Mark, Drousiotou, Anthi
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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The SANAD study of effectiveness of carbamazepine, gabapentin, lamotrigine, oxcarbazepine, or topiramate for treatment of partial epilepsy: an unblinded randomised controlled trial
Marson, Anthony G, Dr, Al-Kharusi, Asya M, MBBCh, Alwaidh, Muna, MBBCh, Appleton, Richard, MA[Oxon], Baker, Gus A, PhD, Chadwick, David W, DM, Cramp, Celia, MBBCh, Cockerell, Oliver C, MD, Cooper, Paul N, DM, Doughty, Julie, MSc, Eaton, Barbara, Gamble, Carrol, PhD, Goulding, Peter J, MD, Howell, Stephen JL, DM, Hughes, Adrian, MBChB, Jackson, Margaret, MD, Jacoby, Ann, PhD, Kellett, Mark, MD, Lawson, Geoffrey R, MB ChB, Leach, John Paul, MD, Nicolaides, Paola, MBChB, Roberts, Richard, DPhil, Shackley, Phil, PhD, Shen, Jing, MSc, Smith, David F, MD, Smith, Philip EM, MD, Smith, Catrin Tudur, PhD, Vanoli, Alessandra, MSc, Williamson, Paula R, PhD
Published in The Lancet (British edition) (24.03.2007)
Published in The Lancet (British edition) (24.03.2007)
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The SANAD study of effectiveness of valproate, lamotrigine, or topiramate for generalised and unclassifiable epilepsy: an unblinded randomised controlled trial
Marson, Anthony G, Dr, Al-Kharusi, Asya M, MBBCh, Alwaidh, Muna, MBBCh, Appleton, Richard, MA[Oxon], Baker, Gus A, PhD, Chadwick, David W, DM, Cramp, Celia, MBBCh, Cockerell, Oliver C, MD, Cooper, Paul N, DM, Doughty, Julie, MSc, Eaton, Barbara, Gamble, Carrol, PhD, Goulding, Peter J, MD, Howell, Stephen JL, DM, Hughes, Adrian, MBChB, Jackson, Margaret, MD, Jacoby, Ann, PhD, Kellett, Mark, MD, Lawson, Geoffrey R, MB ChB, Leach, John Paul, MD, Nicolaides, Paola, MBChB, Roberts, Richard, DPhil, Shackley, Phil, PhD, Shen, Jing, MSc, Smith, David F, MD, Smith, Philip EM, MD, Smith, Catrin Tudur, PhD, Vanoli, Alessandra, MSc, Williamson, Paula R, PhD
Published in The Lancet (British edition) (24.03.2007)
Published in The Lancet (British edition) (24.03.2007)
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Successful Treatment of Super-Refractory Status Epilepticus With Cannabis Oil in a Patient With Neuronal Ceroid Lipofuscinosis
Michaelides, Athena, Bekas, Spyridon, Papaioannou, Antigoni, Lazaridou, Athina, Nicolaides, Paola
Published in Journal of neurology research (2020)
Published in Journal of neurology research (2020)
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Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy
Clara-Hwang, Angela, Stefani, Stefani, Lau, Tracy, Scala, Marcello, Aynekin, Busra, Bernardo, Pia, Madia, Francesca, Bakhtadze, Sophia, Kaiyrzhanov, Rauan, Maroofian, Reza, Zara, Federico, Srinivasan, Varunvenkat M, Gowda, Vykuntaraju, Guliyeva, Ulviyya, Montavont, Alexandra, Poulat, Anne-Lise, Güleç, Ayten, Berger, Colette, Ville, Dorothee M, de Bellescize, Julitta, Cabet, Sara, Wonneberger, Antje, Schulz, Alexander, Rodriguez-Palmero, Agusti, Chatron, Nicolas, Lesca, Gaetan, Per, Hüseyin, Goel, Himanshu, Brown, Janis, Frey, Tanja, Steindl, Katharina, Rauch, Anita, Severino, Mariasavina, Houlden, Henry, Nicolaides, Paola, Striano, Pasquale, Efthymiou, Stephanie
Published in Neurology. Genetics (01.08.2024)
Published in Neurology. Genetics (01.08.2024)
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The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening
Georgiou, Theodoros, Ho, Gladys, Vogazianos, Marios, Dionysiou, Maria, Nicolaou, Alexia, Chappa, Georgia, Nicolaides, Paola, Stylianidou, Goula, Christodoulou, John, Drousiotou, Anthi
Published in Clinical biochemistry (01.05.2012)
Published in Clinical biochemistry (01.05.2012)
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Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH
Patsalis, Philippos C., Sismani, Carolina, Paradesiotou, Anna, Christofi, Christos, Hadjiloizou, Stavros, Nicolaides, Paola, Moutafi, Maria, Kousoulidou, Ludmila, Anastasiadou, Violetta
Published in BioMed research international (01.01.2013)
Published in BioMed research international (01.01.2013)
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Delayed diagnosis of Duchenne muscular dystrophy
Mohamed, Khalid, Appleton, Richard, Nicolaides, Paola
Published in European journal of paediatric neurology (2000)
Published in European journal of paediatric neurology (2000)
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The SANAD study of effectiveness of carbamazepine, gabapentin, lamotrigine, oxcarbazepine, ortopiramate for treatment of partial epilepsy : an unblinded randomised controlled trial. Commentary
FRENCH, Jacquelfne A, MARSCN, DOUGHTY, Julie, EATON, Barbara, GAMBLE, Carrol, GOULDING, Peter J, HOWELL, Stephen J. L, HUGHES, Adrian, JACKSON, Margaret, JACOBY, Ann, KELLETT, Mark, LOWSON, Geoffrey R, AL-KHARUSI, Asya M, LEACH, John Paul, NICOLAIDES, Paola, ROBERTS, Richard, SHACKLEY, Phil, JING SHEN, SMITH, David F, SMITH, Philip E. M, SMITH, Catrin Tudor, VANOLI, Alessandra, WILLIAMSON, Paula R, ALWCIDH, Mono, APPLETON, Richard, BAKER, Gus A, CHADWICK, David W, CRAMP, Celia, COCKERELL, Oliver C, COOPER, Paul N
Published in The Lancet (British edition) (2007)
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Published in The Lancet (British edition) (2007)
Journal Article
The SANAD study of effectiveness of valproate, lamotrigine, ortopiramate for generalised and unclassifiable epilepsy : an unblinded randomised controlled trial. Commentary
FRENCH, Jacqueline A, MARSON, Anthony G, DOUGHTY, Julie, EATON, Barbara, GAMBLE, Carrol, GOULDING, Peter J, HOWELL, Stephen J. L, HUGHES, Adrian, JACKSON, Margaret, JACOBY, Ann, KELLETT, Mark, LAWSON, Geoffrey R, AL-KHARUSI, Asya M, LEACH, John Paul, NICOLAIDES, Paola, ROBERTS, Richard, SHACKLEY, Phil, JING SHEN, SMITH, David F, SMITH, Philip F. M, SMITH, Catrin Tudur, VANOLI, Alessandra, WILLIAMSON, Paula R, ALWOIDH, Muna, APPLETON, Richard, BAKER, Gus A, CHADWICK, David W, CRAMP, Celia, COCKERELL, Oliver C, COOPER, Paul N
Published in The Lancet (British edition) (2007)
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Published in The Lancet (British edition) (2007)
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