Publications by authors named "Eva Forman"

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-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Eva B Forman

ArXiv· February 2025

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MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration.
Nicole Hammann, Dominic Lenz, Alyssa Bianzano, Ralf A Husain, Eva Forman

J Inherit Metab Dis· September 2024

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NRXN1α is associated with increased excitability in ASD iPSC-derived neurons.
Sahar Avazzadeh, Leo R Quinlan, Jamie Reilly, Katya McDonagh, Amirhossein Jalali, Eva B Forman

BMC Neurosci· September 2021

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Fifteen-minute consultation: Approach to investigation and management of childhood dystonia.
Eva Bridget Forman, Mary D King, Kathleen M Gorman

Arch Dis Child Educ Pract Ed· April 2021

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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Eva B Forman

Brain· December 2020

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Increased Ca signaling in neurons derived from ASD induced pluripotent stem cells.
Sahar Avazzadeh, Katya McDonagh, Jamie Reilly, Yanqin Wang, Stephanie D Boomkamp, Eva B Forman

Mol Autism· June 2020

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X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype.
Niamh Shaughnessy, Eva B Forman, Declan O'Rourke, Sally Ann Lynch, Bryan Lynch

Neuromuscul Disord· January 2020

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"No-No" Head Tremor-A Nod to the Diagnosis.
Ciara Terry, Eva B Forman, Kathleen M Gorman, Mary D King

Pediatr Neurol· November 2019

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Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum.
Eva B Forman, Kathleen M Gorman, Sean Ennis, Mary D King

J Child Neurol· September 2019

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NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Maryam Al Shehhi, Eva B Forman, Jacqueline E Fitzgerald, Veronica McInerney, Janusz Krawczyk

Eur J Med Genet· March 2019

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Status dystonicus due to missense variant in ARX: Diagnosis and management.
Kathleen M Gorman, Heather Cary, Laura Gaffney, Eva Forman, Dympna Waldron

Eur J Paediatr Neurol· September 2018

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Dramatic Improvement of a Rare Syndrome With High Dose Riboflavin Treatment.
Eva B Forman, A Reghan Foley, Mary D King

Pediatr Neurol· September 2018

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Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?
Eva B Forman, Kathleen M Gorman, Judith Conroy, Neil Arthur, Ciara Grant

Arch Dis Child· March 2018

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Interferonopathies in laboratory-negative suspected congenital infection.
Eva B Forman, Mary D King, Nicholas M Allen

Lancet Infect Dis· January 2018

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Noninvasive continuous cardiac output and cerebral perfusion monitoring in term infants with neonatal encephalopathy: assessment of feasibility and reliability.
Eva Forman, Colm R Breatnach, Stephanie Ryan, Jana Semberova, Jan Miletin

Pediatr Res· November 2017

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Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype.
Kathleen M Gorman, Eva Forman, Judith Conroy, Nicholas M Allen, Amre Shahwan

Epilepsia· July 2017

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Left ventricular rotational mechanics in infants with hypoxic ischemic encephalopathy and preterm infants at 36 weeks postmenstrual age: A comparison with healthy term controls.
Colm R Breatnach, Eva Forman, Adrienne Foran, Cathy Monteith, Lisa McSweeney

Echocardiography· February 2017

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Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
A Reghan Foley, Manoj P Menezes, Amelie Pandraud, Michael A Gonzalez, Ahmad Al-Odaib, Eva Forman

Brain· January 2014

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Idiopathic intracranial hypertension associated with iron-deficiency anaemia.
Eva Bridget Forman, James Joseph O'Byrne, Louise Capra, Elizabeth McElnea, Mary D King

Arch Dis Child· June 2013

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