Publications by authors named "Sarah Neuhaus"

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Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
A Reghan Foley, Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Sarah B Neuhaus

Brain· September 2025

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Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.
Riley M McCarty, Dimah Saade, Pinki Munot, Chamindra G Laverty, Hailey Pinz, Sarah B Neuhaus

Ann Clin Transl Neurol· March 2025

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Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy.
A Reghan Foley, Pomi Yun, Meganne E Leach, Sarah B Neuhaus, Gilberto V Averion

Neurol Genet· June 2024

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Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications.
Janelle Geist Hauserman, Chamindra G Laverty, Sandra Donkervoort, Ying Hu, Sarah Silverstein, Sarah B Neuhaus

HGG Adv· April 2024

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Pathogenic variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Sandra Donkervoort, Martijn van de Locht, Dario Ronchi, Janine Reunert, Catriona A McLean, Sarah B Neuhaus

Sci Transl Med· April 2024

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The recurrent deep intronic pseudoexon-inducing variant c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
A Reghan Foley, Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Sarah B Neuhaus

medRxiv· March 2024

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Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.
Michael W Lawlor, Benedikt Schoser, Marta Margeta, Caroline A Sewry, Karra A Jones, Sarah Neuhaus

EBioMedicine· January 2024

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Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results.
Jerry R Mendell, Eric R Pozsgai, Sarah Lewis, Danielle A Griffin, Linda P Lowes, Sarah Neuhaus

Nat Med· January 2024

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Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
Perry B Shieh, Nancy L Kuntz, James J Dowling, Wolfgang Müller-Felber, Carsten G Bönnemann, Sarah Neuhaus

Lancet Neurol· December 2023

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Electrophysiological Characterization of a Variant with Tremor Phenotype.
Felipe Vial, Patrick McGurrin, Thomas Osterholt, Debra J Ehrlich, Susan T Iannacone, Sarah B Neuhaus

Mov Disord Clin Pract· April 2023

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Four-dimensional trapped ion mobility spectrometry lipidomics for high throughput clinical profiling of human blood samples.
Raissa Lerner, Dhanwin Baker, Claudia Schwitter, Sarah Neuhaus, Tony Hauptmann

Nat Commun· February 2023

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Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant.
Luisa Averdunk, Sandra Donkervoort, Denise Horn, Stephan Waldmüller, Safoora Syeda, Sarah B Neuhaus

Neuropediatrics· October 2022

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INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.
James J Dowling, Wolfgang Müller-Felber, Barbara K Smith, Carsten G Bönnemann, Nancy L Kuntz, Sarah Neuhaus

J Neuromuscul Dis· July 2022

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Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Payam Mohassel, Sandra Donkervoort, Museer A Lone, Matthew Nalls, Kenneth Gable, Sarah B Neuhaus

Nat Med· July 2021

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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Alistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, Sahar I Da'as, Reza Maroofian, Sarah B Neuhaus

Brain· March 2021

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Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Sandra Donkervoort, Carl E Kutzner, Ying Hu, Xavière Lornage, John Rendu, Sarah B Neuhaus

Am J Hum Genet· December 2020

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250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands.
Sarah B Neuhaus, Carina Wallgren-Pettersson, Carsten G Bönnemann, Ulrike Schara, Laurent Servais

Neuromuscul Disord· October 2020

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Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patients.
Ranjini Srinivasan, Pomi Yun, Sarah Neuhaus, Payam Mohassel, Jahannaz Dastgir

Neuromuscul Disord· September 2020

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Dominant collagen XII mutations cause a distal myopathy.
Payam Mohassel, Teerin Liewluck, Ying Hu, Daniel Ezzo, Tracy Ogata, Sarah Neuhaus

Ann Clin Transl Neurol· October 2019

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High-Frequency Ultrasound for Assessment of Peri-Implant Bone Thickness.
Juliana Marotti, Sarah Neuhaus, Daniel Habor, Lauren Bohner, Stefan Heger

J Clin Med· September 2019

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The Use of Muscle Ultrasound in the Diagnosis and Differential Diagnosis of Congenital Disorders of Muscle in the Age of Next Generation Genetics.
Dimah N Saade, Sarah B Neuhaus, A Reghan Foley, Carsten G Bönnemann

Semin Pediatr Neurol· April 2019

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ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
Xavière Lornage, Norma B Romero, Claire A Grosgogeat, Edoardo Malfatti, Sandra Donkervoort, Sarah B Neuhaus

Acta Neuropathol· March 2019

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