Publications by authors named "Maha Elseed"

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Motor Function in Limb-Girdle Muscular Dystrophy R1/2A: Validation of Clinical Outcome Assessments for Clinical Care and Trial Readiness.
Meredith K James, Megan A Iammarino, Natalie F Reash, Christopher L Steiner, Audrey B Knight, Maha Elseed

Neurol Genet· December 2025

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Levels of exercise exposure among people living with neuromuscular disorders: lessons learned from real-world data.
Mark Richardson, Virginie Kinet, Karen Wong, Maha Elseed, Dionne Moat

Neuromuscul Disord· July 2025

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Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelines.
Pietro Riguzzi, Holly Borland, Meredith K James, John Bourke, Chiara Marini Bettolo, Maha ElSeed

J Neurol· June 2025

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Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophy.
Maha Elseed, James N Sampson, Tuomo Polvikoski, Matthew Henderson, Yolande Parkhurst

Neuromuscul Disord· February 2025

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Association between age at loss of ambulation and cardiac function in adults with Duchenne muscular dystrophy.
Marianela Schiava, John P Bourke, Jordi Díaz-Manera, Anna Johnson, Maha A Elseed

Neuromuscul Disord· January 2025

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Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.
Ashraf Yahia, Ahlam A A Hamed, Inaam N Mohamed, Maha A Elseed, Mustafa A Salih, Omnia M Tag Elseed

Eur J Hum Genet· October 2024

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Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Mahmoud Koko, Maha A Elseed, Inaam N Mohammed, Ahlam A Hamed, Amal S I Abd Allah

Eur J Hum Genet· October 2024

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A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.
Kyle P Flannery, Sylvia Safwat, Eli Matsell, Namarata Battula, Ahlam A A Hamed, Maha A Elseed

Neurogenetics· October 2024

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Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy.
Marianela Schiava, Robert Muni Lofra, John P Bourke, Meredith K James, Jordi Díaz-Manera, Maha A Elseed

Neuromuscul Disord· August 2024

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Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids.
Marianela Schiava, Robert Muni Lofra, John P Bourke, Jordi Díaz-Manera, Meredith K James, Maha A Elseed

Eur J Neurol· June 2024

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A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of -related disorders caused by missense changes.
Kyle P Flannery, Sylvia Safwat, Eli Matsell, Namarata Battula, Ahlam A A Hamed, Maha A Elseed

medRxiv· May 2024

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Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories.
Robert Muni-Lofra, Eduard Juanola-Mayos, Marianela Schiava, Dionne Moat, Maha Elseed

Neurol Genet· August 2023

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A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
Mutaz Amin, Cedric Vignal, Esraa Eltaraifee, Inaam N Mohammed, Ahlam A A Hamed, Maha A Elseed

BMC Med Genomics· November 2022

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Methylation of alpha-synuclein in a Sudanese cohort.
Yousuf Bakhit, Ina Schmitt, Ahlam Hamed, Etedal Ahmed A Ibrahim, Inaam N Mohamed, Maha A Elseed

Parkinsonism Relat Disord· August 2022

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Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.
Ashraf Yahia, Ikhlas Ben Ayed, Ahlam A Hamed, Inaam N Mohammed, Maha A Elseed

Ann Hum Genet· July 2022

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Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan.
Mutaz Amin, Cedric Vignal, Ahlam A A Hamed, Inaam N Mohammed, Maha A Elseed

Front Genet· June 2022

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Novel variants causing megalencephalic leukodystrophy in Sudanese families.
Mutaz Amin, Cedric Vignal, Ahlam A A Hamed, Inaam N Mohammed, Maha A Elseed

J Hum Genet· March 2022

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An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Mahmoud Koko, Ashraf Yahia, Liena E Elsayed, Ahlam A Hamed, Inaam N Mohammed, Maha A Elseed

Ann Hum Genet· September 2021

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A children's epilepsy diagnosis aid: Development and early validation using a Bayesian approach.
Inaam N Mohamed, Ruwa A F Mohamed, Ahlam Hamed, Maha Elseed, Victor Patterson

Epilepsy Behav· August 2021

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Pathogenic Variants in Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.
Ashraf Yahia, Liena E O Elsayed, Remi Valter, Ahlam A A Hamed, Inaam N Mohammed, Maha A Elseed

Front Neurol· August 2021

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Utility of WhatsApp in healthcare provision and sharing of medical information with caregivers of children with neurodisabilties: experience from Sudan.
Inaam N Mohamed, Maha A Elseed

Sudan J Paediatr· January 2021

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Novel Homozygous Missense Mutation in the Gene in a Large Sudanese Family.
Liena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, Maha A Elseed, Mustafa A M Salih

Front Neurol· October 2020

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Histopathological perspective of the pulled-through colon in Hirschsprung disease: Impact on clinical outcome.
Somaia Ahmed Saad, Maha Mohamed Gusim Elseed, Amr Abdelhamid AbouZeid, Eman AbdelSalam Ibrahim, Ahmed Bassiouny Radwan

J Pediatr Surg· September 2020

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Intelligence quotient (IQ) among children with epilepsy: National epidemiological study - Sudan.
Inaam N Mohamed, Abdelgadir H Osman, Somia Mohamed, Emtinan K Hamid, Ahlam A Hamed, Maha A Elseed

Epilepsy Behav· February 2020

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Classification and management of epilepsy and epileptic syndromes in a cohort of 202 school children- a 2 year follow up study- Sudan.
Inaam N Mohamed, Maha A Elseed, Somia Mohamed, Ali Alsir, Emtinan K Hamid

BMC Neurol· November 2019

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