Publications by authors named "Jennifer Duff"

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Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.
Pablo Iruzubieta, José Verdú-Díaz, Ana Töpf, Leonela Luce, Kristl G Claeys, Jennifer Duff

J Neurol· January 2025

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Loss-of-function variants in cause congenital myopathy with prominent facial and ocular involvement.
Mridul Johari, Ana Topf, Chiara Folland, Jennifer Duff, Lein Dofash

J Med Genet· September 2024

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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Ana Töpf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Jennifer Duff

Nat Genet· March 2024

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Loss-of-function variants in cause congenital myopathy with prominent facial involvement.
Mridul Johari, Ana Topf, Chiara Folland, Jennifer Duff, Lein Dofash

medRxiv· February 2024

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A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology.
Hazim Kadhim, Eliane El-Howayek, Sandra Coppens, Jennifer Duff, Ana Topf

Neuromuscul Disord· May 2023

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Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
Conrad C Weihl, Ana Töpf, Rocio Bengoechea, Jennifer Duff, Richard Charlton

Acta Neuropathol· January 2023

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-related congenital myopathy: expansion of the clinical and genetic spectrum.
Magdalena Mroczek, Cheryl Longman, Maria Elena Farrugia, Solange Kapetanovic Garcia, Didem Ardicli, Jennifer Duff

J Med Genet· November 2022

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A Multicentered Academic Medical Center Experience of a Simulated Root Cause Analysis (RCA) for Hematology/Oncology Fellows.
Danielle Wallace, Denise Cochran, Jennifer Duff, Julia Close, Martina Murphy

J Cancer Educ· August 2022

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Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease.
Magdalena Mroczek, Dimitrios Zafeiriou, Juliana Gurgel-Gianetti, Beatriz Vilela Morais de Azevedo, Andreas Roos, Jennifer Duff

Neuropediatrics· October 2021

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Satisfaction of General Versus Specialized Continuity Clinic in Hematology Oncology Fellowship Training: A Survey.
Sama Ilyas, Martina Murphy, Jennifer Duff, Julia Close

J Med Educ Curric Dev· September 2021

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Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.
Jorge Alonso-Pérez, Ana Casasús, Álvaro Gimenez-Muñoz, Jennifer Duff, Ricard Rojas-Garcia

Neuromuscul Disord· August 2021

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A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A.
Sabine Specht, Jennifer Duff, Richard Charlton, Tuomo Polvikoski, Rita Barresi

Neuromuscul Disord· July 2021

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Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
Denisa Hathazi, Helen Griffin, Matthew J Jennings, Michele Giunta, Christopher Powell, Jennifer Duff

EMBO J· December 2020

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Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype.
Oula Knuutinen, Angela Pyle, Maria Suo-Palosaari, Jennifer Duff, Tawfiq Froukh

Clin Genet· November 2020

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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Ana Töpf, Katherine Johnson, Adam Bates, Lauren Phillips, Katherine R Chao, Jennifer Duff

Genet Med· September 2020

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Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran.
Yalda Nilipour, Farzad Fatehi, Saleheh Sanatinia, Anna Bradshaw, Jennifer Duff

J Neurol Sci· April 2020

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Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients.
Magdalena Mroczek, Hacer Durmus, Sunita Bijarnia-Mahay, Ana Töpf, Roula Ghaoui, Jennifer Duff

Neuromuscul Disord· April 2020

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Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Nadja Mingirulli, Angela Pyle, Denisa Hathazi, Charlotte L Alston, Nicolai Kohlschmidt, Jennifer Duff

J Inherit Metab Dis· March 2020

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Survival trends of metastatic small intestinal neuroendocrine tumor: a population-based analysis of SEER database.
Chintan P Shah, Lazarus K Mramba, Rohit Bishnoi, Athira Unnikrishnan, Jennifer M Duff

J Gastrointest Oncol· October 2019

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Principles for the Oncologist in Caring for Muslim Patients.
Bilal Farooqi, Aadil Modi, Mohammad Omar Hussaini, Merry Jennifer Markham, Jennifer M Duff

J Oncol Pract· September 2018

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Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells.
Selena Trifunov, Angela Pyle, Maria Lucia Valentino, Rocco Liguori, Patrick Yu-Wai-Man, Jennifer Duff

Sci Rep· August 2018

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Impact of Palliative Chemotherapy and Travel Distance on Hospice Referral in Patients With Stage IV Pancreatic Cancer: A Retrospective Analysis Within a Veterans Administration Medical Center.
Jennifer M Duff, Ryan M Thomas

Am J Hosp Palliat Care· June 2018

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Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo mutation.
Boglarka Bansagi, Vietxuan Phan, Mark R Baker, Julia O'Sullivan, Matthew J Jennings, Jennifer Duff

Neurology· May 2018

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A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.
Marina Bartsakoulia, Angela Pyle, Diego Troncoso-Chandía, Josefa Vial-Brizzi, Marysol V Paz-Fiblas, Jennifer Duff

Hum Mol Genet· April 2018

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Implementation of a mock root cause analysis to provide simulated patient safety training.
Martina Murphy, Jennifer Duff, Julie Whitney, Benjamin Canales, Merry-Jennifer Markham

BMJ Open Qual· October 2017

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