Publications by authors named "Katherine Sims"

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Examining predictors of relationship dissolution among unmarried parents: Applying the vulnerability-stress-adaptation framework.
Jeneé C Duncan, Xiaoya Zhang, Ted G Futris, Katherine M Sims

J Fam Psychol· August 2024

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A case of juvenile CLN1- challenge in diagnosis and epilepsy treatment.
Ruzica Kravljanac, Katherine Sims

Neurocase· April 2021

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Promotes Growth, Meristem, Seed, and Vein Formation during Rice Plant Development.
Katherine Sims, Fatemeh Abedi-Samakush, Nicole Szulc, Monika Gyongyi Macias Honti, Jim Mattsson

Int J Mol Sci· April 2021

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Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy.
Martin S Maron, Winnie Xin, Katherine B Sims, Rita Butler, Tammy S Haas

Am J Med· February 2018

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Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers.
David E Sleat, Abla Tannous, Istvan Sohar, Jennifer A Wiseman, Haiyan Zheng, Katherine B Sims

J Proteome Res· October 2017

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Management Strategies for CLN2 Disease.
Ruth E Williams, Heather R Adams, Martin Blohm, Jessica L Cohen-Pfeffer, Emily de Los Reyes, Katherine Sims

Pediatr Neurol· April 2017

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Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry.
Robert J Hopkin, Gustavo Cabrera, Joel Charrow, Roberta Lemay, Ana Maria Martins, Katherine Sims

Mol Genet Metab· September 2016

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Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).
Samuel F Berkovic, John F Staropoli, Stirling Carpenter, Karen L Oliver, Stanislav Kmoch, Katherine B Sims

Neurology· August 2016

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Mitochondrial Encephalopathy and Optic Neuropathy Due to m.10158 MT-ND3 Complex I Mutation Presenting in an Adult Patient: Case Report and Review of the Literature.
Ivana Vodopivec, Tracey A Cho, Joseph F Rizzo, Matthew P Frosch, Katherine B Sims

Neurologist· July 2016

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Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis.
Claire Zar-Kessler, Amel Karaa, Katherine Bustin Sims, Virginia Clarke, Braden Kuo

Therap Adv Gastroenterol· July 2016

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Determinants of white matter hyperintensity burden in patients with Fabry disease.
Natalia S Rost, Lisa Cloonan, Allison S Kanakis, Kaitlin M Fitzpatrick, Danielle R Azzariti, Katherine B Sims

Neurology· May 2016

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The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.
Romina Kohan, Favio Pesaola, Norberto Guelbert, Patricia Pons, Ana María Oller-Ramírez, Katherine Sims

Biochim Biophys Acta· October 2015

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TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia.
Marisela E Dy, Katherine B Sims, Jennifer Friedman

Neurology· October 2015

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Enzyme replacement therapy stabilized white matter lesion progression in Fabry disease.
Andreas Fellgiebel, Martin Gartenschläger, Kerstin Wildberger, Armin Scheurich, Robert J Desnick, Katherine Sims

Cerebrovasc Dis· September 2015

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Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M Enns, Katherine Sims

Genet Med· September 2015

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Novel recruitment strategy to enrich for LRRK2 mutation carriers.
Tatiana Foroud, Danielle Smith, Jacqueline Jackson, Jennifer Verbrugge, Cheryl Halter, Katherine Sims

Mol Genet Genomic Med· September 2015

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Powering the immune system: mitochondria in immune function and deficiency.
Melissa A Walker, Stefano Volpi, Katherine B Sims, Jolan E Walter, Elisabetta Traggiai

J Immunol Res· June 2015

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Predisposition to infection and SIRS in mitochondrial disorders: 8 years' experience in an academic center.
Melissa A Walker, Nancy Slate, Alexandra Alejos, Stefano Volpi, Rajashri S Iyengar, Katherine B Sims

J Allergy Clin Immunol Pract· April 2015

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Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Mark B Consugar, Daniel Navarro-Gomez, Emily M Place, Kinga M Bujakowska, Maria E Sousa, Katherine B Sims

Genet Med· April 2015

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Activation of peroxisome proliferator-activated receptor α induces lysosomal biogenesis in brain cells: implications for lysosomal storage disorders.
Arunava Ghosh, Malabendu Jana, Khushbu Modi, Frank J Gonzalez, Katherine B Sims

J Biol Chem· April 2015

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Cognitive function in adults aging with fabry disease: a case-control feasibility study using telephone-based assessments.
Virginia G Wadley, Leslie A McClure, David G Warnock, Caroline L Lassen-Greene, Robert J Hopkin, Katherine Sims

JIMD Rep· March 2015

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
Elizabeth T Cirulli, Brittany N Lasseigne, Slavé Petrovski, Peter C Sapp, Patrick A Dion, Katherine B Sims

Science· March 2015

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Cerebrovascular involvement in Fabry disease: current status of knowledge.
Edwin Kolodny, Andreas Fellgiebel, Max J Hilz, Katherine Sims, Paul Caruso

Stroke· January 2015

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Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.
Xenia Lojewski, John F Staropoli, Sunita Biswas-Legrand, Alexandra M Simas, Larissa Haliw, Katherine B Sims

Hum Mol Genet· April 2014

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Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.
Daniel S Lieber, Steven G Hershman, Nancy G Slate, Sarah E Calvo, Katherine B Sims

BMC Med Genet· March 2014

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