Publications by authors named "Maria Kinali"

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Impact of the COVID-19 Pandemic on Children with ASD and ADHD in Northern Greece: A Pilot Study.
Efterpi Pavlidou, Anna Samara, Sofia Michailidou, Maria Kinali, Martha Spilioti

Brain Sci· November 2025

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Systematic Review Suggests Nutraceuticals Containing Vitamin B2 Could Provide an Alternative Treatment for Paediatric Migraines.
Elisa Martello, Fatimah Aiyelabegan, Jemma Orr, Emma Wilson, Joanne R Morling, Maria Kinali

Acta Paediatr· October 2025

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Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Soha Sewani, Mahshid S Azamian, Bryce A Mendelsohn, Frederic Tran Mau-Them, Manon Réda, Maria Kinali

Am J Med Genet A· March 2024

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The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Seth A Stafki, Johnnie Turner, Hannah R Littel, Christine C Bruels, Don Truong, Maria Kinali

Pediatr Neurol· April 2023

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Isolated bulbar palsy and dysphagia in children with respiratory symptoms.
Stacey Zimmels, Ian M Balfour-Lynn, Loucas Christodoulou, Mantha Pantazi, Efterpi Pavlidou, Maria Kinali

Dev Med Child Neurol· April 2022

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Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution.
Angelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto, Yunan Gao, Dario Balestra, Maria Kinali

Neurol Genet· April 2022

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Machine learning with neuroimaging data to identify autism spectrum disorder: a systematic review and meta-analysis.
Da-Yea Song, Constantin-Cristian Topriceanu, Denis C Ilie-Ablachim, Maria Kinali, Sotirios Bisdas

Neuroradiology· December 2021

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Genetic neuropathies presenting with CIDP-like features in childhood.
Miguel A Fernandez-Garcia, Georg M Stettner, Maria Kinali, Antonia Clarke, Penny Fallon

Neuromuscul Disord· February 2021

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Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
Shan Tang, Laura Addis, Anna Smith, Simon D Topp, Manuela Pendziwiat, Maria Kinali

Epilepsia· May 2020

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Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder.
Yunan Gao, Elaine E Irvine, Ioanna Eleftheriadou, Carlos Jiménez Naranjo, Francesca Hearn-Yeates, Maria Kinali

Brain· March 2020

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Neuroimaging Spectrum of Inherited Neurotransmitter Disorders.
Yi Ting Lim, Kshitij Mankad, Maria Kinali, Ai Peng Tan

Neuropediatrics· February 2020

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mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disorders.
Victoria Vlachou, Line Larsen, Efterpi Pavlidou, Naila Ismayilova, N D Mazarakis, Maria Kinali

J Genet· June 2019

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The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder.
Matthew Benger, Kshitij Mankad, Christos Proukakis, Nicholas D Mazarakis, Maria Kinali

Front Neurol· May 2019

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A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations.
Anita Sri, Piers Daubeney, Sanjay Prasad, John Baksi, Maria Kinali

Case Rep Pediatr· March 2019

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Autism spectrum disorder: prospects for treatment using gene therapy.
Matthew Benger, Maria Kinali, Nicholas D Mazarakis

Mol Autism· October 2018

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Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.
Laura Addis, William Sproviero, Sanjeev V Thomas, Roberto H Caraballo, Stephen J Newhouse, Maria Kinali

J Med Genet· September 2018

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Benign Infantile Epilepsy Mimicking Reflex Anoxic Seizures in an Infant with PRRT2 Gene Mutation.
Victoria Vlachou, Vivian Chu, Efterpi Pavlidou, Naila Ismayilova, Mankad Kshitij, Maria Kinali

Indian J Pediatr· August 2018

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Use of the Ketogenic Diet to Treat Intractable Epilepsy in Mitochondrial Disorders.
Eleni Paleologou, Naila Ismayilova, Maria Kinali

J Clin Med· May 2017

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A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding.
Efterpi Pavlidou, Vijaya Ramachandran, Veronica Govender, Clare Wilson, Rini Das, Maria Kinali

Brain Dev· March 2017

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Posterior reversible encephalopathy syndrome after intrathecal methotrexate infusion: a case report and literature update.
Efterpi Pavlidou, Evangelos Pavlou, Athanasia Anastasiou, Zoi Pana, Vasiliki Tsotoulidou, Maria Kinali

Quant Imaging Med Surg· October 2016

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Metaphyseal dysplasia associated with chronic facial nerve palsy.
Loucas Christodoulou, Efterpi Pavlidou, Cristina Spyridou, Simon Eccles, Alistair Calder, Maria Kinali

Childs Nerv Syst· July 2016

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A microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy.
Naim Panjwani, Michael D Wilson, Laura Addis, Jennifer Crosbie, Elaine Wirrell, Maria Kinali

Ann Clin Transl Neurol· July 2016

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Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.
Efterpi Pavlidou, Vincenzo Salpietro, Rahul Phadke, Iain P Hargreaves, Leigh Batten, Maria Kinali

Eur J Paediatr Neurol· May 2016

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Delineation of the movement disorders associated with FOXG1 mutations.
Apostolos Papandreou, Ruth B Schneider, Erika F Augustine, Joanne Ng, Kshitij Mankad, Maria Kinali

Neurology· May 2016

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Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.
Dora Steel, Vincenzo Salpietro, Rahul Phadke, Matthew Pitt, Giulia Gentile, Maria Kinali

J Genet· December 2015

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