Publications by authors named "Connolly Steigerwald"

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Pearls and Oy-sters: Chronic Progressive External Ophthalmoplegia With Electrical Myotonia and Negative Initial Genetic Testing.
Brian Y Li, Julia H Greenberg, Connolly Steigerwald, Renkui Bai, Kurenai Tanji

Neurology· November 2025

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Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A.
Anna M Gunelson, Kwang-Soo Kim, Connolly G Steigerwald, Devorah Segal, Nicolas J Abreu

J Hum Genet· August 2025

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-Related Leigh Syndrome Mimicking a Leukodystrophy.
Bailyn Hogue, Mekka R Garcia, Connolly G Steigerwald, Maria J Borja, Nicolas J Abreu

J Child Neurol· July 2025

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Causes of Diplopia, Strabismus Patterns, and Ocular Motor Features in Patients With Spinocerebellar Ataxia Type 27B.
Daniel R Gold, Anand K Bery, Emile Moukheiber, Weiyi Mu, Nicolas J Abreu, Connolly G Steigerwald

J Neuroophthalmol· July 2025

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Further delineation of the SCAF4-associated neurodevelopmental disorder.
Cosima M Schmid, Anne Gregor, Anna Ruiz, Carmen Manso Bazús, Isabella Herman, Connolly G Steigerwald

Eur J Hum Genet· May 2025

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Novel C1A Domain Variant in Protein Kinase Cγ in Spinocerebellar Ataxia Type 14 Decreases Autoinhibition.
Gayatri Raj Ghosh, Tiffany H Kao, Connolly G Steigerwald, Nora L Chan, Alexandra C Newton

Cerebellum· March 2025

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Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral sclerosis.
Connolly G Steigerwald, Carina Bertolini, Martin McElhiney, Amanda L Bergner, Matthew B Harms

J Genet Couns· February 2025

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Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.
Athanasia Stoupa, Monica Malheiros Franca, Maha Abdulhadi-Atwan, Haruki Fujisawa, Manassawee Korwutthikulrangsri, Connolly Steigerwald

Genet Med· December 2024

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Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.
Alison Garber, Lisa S Weingarten, Nicolas J Abreu, Houda Zghal Elloumi, Tobias Haack, Connolly Steigerwald

Am J Med Genet A· July 2024

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Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference Proceedings.
Kimberly A O'Neill, Andrew Dugue, Nicolas J Abreu, Laura J Balcer, Marc Branche, Connolly Steigerwald

Neurol Neuroimmunol Neuroinflamm· March 2024

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CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.
Connolly Steigerwald, Jill Borsuk, John Pappas, Miranda Galey, Anna Scott

Mol Genet Metab· December 2023

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Pearls & Oy-sters: -Related Leukoencephalopathy With Spinal Cord Lesions Mimicking Multiple Sclerosis.
Aarushi Jain, Vito P Arena, Connolly Steigerwald, Maria J Borja, Ilya Kister

Neurology· September 2023

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Two cases of -related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder.
Sophie R Wilkins, Amy W Yu, Connolly Steigerwald, Kurenai Tanji, Alejandro D Iglesias

Mult Scler· June 2023

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