Publications by authors named "Katherine B Sims"

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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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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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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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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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New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease).
Mariana Gómez-Nájera, Hilario Barajas-Medina, Mayra C Gallegos-Rivas, Pedro Mendez-Sashida, Kendrick A Goss, Katherine B Sims

J Pediatr Gastroenterol Nutr· 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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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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Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.
Susan L Cotman, Amel Karaa, John F Staropoli, Katherine B Sims

Curr Neurol Neurosci Rep· August 2013

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Targeted exome sequencing of suspected mitochondrial disorders.
Daniel S Lieber, Sarah E Calvo, Kristy Shanahan, Nancy G Slate, Shangtao Liu, Katherine B Sims

Neurology· May 2013

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Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress.
Shuping Li, Jinghao Sheng, Jamie K Hu, Wenhao Yu, Hiroko Kishikawa, Katherine B Sims

Angiogenesis· April 2013

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Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
Katherine R Smith, Hans-Henrik M Dahl, Laura Canafoglia, Eva Andermann, John Damiano, Katherine B Sims

Hum Mol Genet· April 2013

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Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa.
Ans T van der Ploeg, Richard Barohn, Lisa Carlson, Joel Charrow, Paula R Clemens, Katherine B Sims

Mol Genet Metab· November 2012

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Norrie disease: extraocular clinical manifestations in 56 patients.
Sharon E Smith, Thomas E Mullen, Dionne Graham, Katherine B Sims, Heidi L Rehm

Am J Med Genet A· August 2012

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A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
John F Staropoli, Amel Karaa, Elaine T Lim, Andrew Kirby, Naser Elbalalesy, Katherine B Sims

Am J Hum Genet· July 2012

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Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.
Katherine R Smith, John Damiano, Silvana Franceschetti, Stirling Carpenter, Laura Canafoglia, Katherine B Sims

Am J Hum Genet· June 2012

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An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
John F Staropoli, Winnie Xin, Rosemary Barone, Susan L Cotman, Katherine B Sims

BMC Med Genet· June 2012

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SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.
Jeffrey A Brown, Jionghong Min, John F Staropoli, Elisa Collin, Stephen Bi, Katherine B Sims

Amyotroph Lateral Scler· February 2012

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