Search Results - "Donkervoort, Sandra"

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

Authors: Donkervoort, Sandra Mohassel, Payam O'Leary, Melanie et al.

Source: Annals of Clinical & Translational Neurology. Mar2024, Vol. 11 Issue 3, p629-640. 12p.

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

Authors: Foley, A Reghan Bolduc, Véronique Guirguis, Fady et al.

Source: Brain: A Journal of Neurology; Sep2025, Vol. 148 Issue 9, p3215-3227, 13p

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

Authors: Dofash, Lein N H Miles, Lee B Saito, Yoshihiko et al.

Source: Brain: A Journal of Neurology; May2025, Vol. 148 Issue 5, p1707-1722, 16p

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.

Authors: Gunasekaran, Mekala Littel, Hannah R. Wells, Natalya M. et al.

Source: FEBS Journal. 9/15/2025, Vol. 292 Issue 18, p4854-4869. 16p.

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.

Authors: Orbach, Rotem Maio, Nunziata Butterfield, Russell J. et al.

Source: Annals of Clinical & Translational Neurology. Sep2025, Vol. 12 Issue 9, p1834-1845. 12p.

A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy.

Authors: Mohassel, Payam Yun, Pomi Syeda, Safoora et al.

Source: Annals of Clinical & Translational Neurology. Aug2023, Vol. 10 Issue 8, p1442-1455. 14p.

A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type.

Authors: Daşar, Tuğba Donkervoort, Sandra Kiper, Pelin Özlem Şimşek et al.

Source: Journal of Pediatric Research. Sep2022, Vol. 9 Issue 3, p297-301. 5p.

Electrophysiological Characterization of a MYH7 Variant with Tremor Phenotype.

Authors: Vial, Felipe McGurrin, Patrick Osterholt, Thomas et al.

Source: Movement Disorders Clinical Practice. Apr2023, Vol. 10 Issue 4, p646-651. 6p.

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Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.

Authors: Bharucha-Goebel, Diana X Norato, Gina Saade, Dimah et al.

Source: Brain: A Journal of Neurology; Oct2021, Vol. 144 Issue 10, p3239-3250, 12p

MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.

Authors: Neto, Osorio Lopes Abath Medne, Livija Donkervoort, Sandra et al.

Source: Brain: A Journal of Neurology; Sep2021, Vol. 144 Issue 9, p2722-2731, 10p

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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

Authors: Pagnamenta, Alistair T Kaiyrzhanov, Rauan Zou, Yaqun et al.

Source: Brain: A Journal of Neurology; Feb2021, Vol. 144 Issue 2, p584-600, 17p

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Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.

Authors: Donkervoort, Sandra Mohassel, Payam Laugwitz, Lucia et al.

Source: American Journal of Medical Genetics. Part A; Oct2020, Vol. 182 Issue 10, p2272-2283, 12p

Dominant collagen XII mutations cause a distal myopathy.

Authors: Mohassel, Payam Liewluck, Teerin Hu, Ying et al.

Source: Annals of Clinical & Translational Neurology. Oct2019, Vol. 6 Issue 10, p1980-1988. 9p.

Responsiveness and Minimal Clinically Important Difference of the Motor Function Measure in Collagen VI-Related Dystrophies and Laminin Alpha2-Related Muscular Dystrophy.

Authors: Le Goff, Laure Meilleur, Katherine G. Norato, Gina et al.

Source: Archives of Physical Medicine & Rehabilitation. Apr2021, Vol. 102 Issue 4, p604-610.

Genetic regulatory variation in populations informs transcriptome analysis in rare disease.

Authors: Mohammadi, Pejman Castel, Stephane E. Cummings, Beryl B. et al.

Source: Science (pre-March 2025). 10/18/2019, Vol. 366 Issue 6463, p351-356. 6p. 1 Color Photograph, 3 Graphs.

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.

Authors: Deng, Han-Xiang Chen, Wenjie Hong, Seong-Tshool et al.

Source: Nature. 9/8/2011, Vol. 477 Issue 7363, p211-215. 5p. 2 Color Photographs, 1 Diagram, 1 Graph.

Subjects: Amyotrophic lateral sclerosis, Genetic mutation, Motor neurons, Cerebral amyloid angiopathy, Superoxide dismutase

A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report.

Authors: Sirisena, Nirmala Dushyanthi Samaranayake, U. M. Jayami Eshana Neto, Osorio Lopes Abath et al.

Source: BMC Neurology. 3/9/2021, Vol. 21 Issue 1, p1-7. 7p.