Items where Author is "Maroofian, R."

Article

(2026) Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 Patients. Clinical genetics. pp. 564-570. ISSN 1399-0004 (Electronic) 0009-9163 (Linking)

(2025) Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genetics in Medicine. p. 23. ISSN 1098-3600

(2025) Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements. Genetics in Medicine. p. 17. ISSN 1098-3600

(2025) ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy. Genetics in Medicine. p. 15. ISSN 1098-3600

(2025) Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia. Movement Disorders. pp. 2531-2537. ISSN 0885-3185

(2024) Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders. medRxiv : the preprint server for health sciences.

(2024) ELFN1 deficiency is associated with an autosomal recessive neurodevelopmental disorder with epilepsy. European Journal of Human Genetics. pp. 1510-1511. ISSN 1018-4813

(2023) Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy. European journal of human genetics : EJHG. pp. 97-104. ISSN 1476-5438 (Electronic) 1018-4813 (Print) 1018-4813 (Linking)

(2023) Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review. Movement Disorders Clinical Practice. pp. 101-108. ISSN 2330-1619 (Electronic) 2330-1619 (Linking)

(2022) Biallelic Variants in the Ectonucleotidase <i>ENTPD1</i> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Annals of Neurology. pp. 304-321. ISSN 0364-5134

(2022) Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. ANNALS OF NEUROLOGY. pp. 304-321. ISSN 0364-5134 1531-8249 J9 - ANN NEUROL

(2022) A recurrent homozygous missense <i>DPM3</i> variant leads to muscle and brain disease. Clinical Genetics. pp. 530-536. ISSN 0009-9163

(2022) A recurrent homozygous missense DPM3 variant leads to muscle and brain disease. Clin Genet. ISSN 0009-9163

(2021) An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain. pp. 584-600. ISSN 0006-8950

(2018) An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction. British Journal of Dermatology. E265-E267. ISSN 0007-0963