One Community’s Effort to Control Genetic Disease

Por Strauss, Kevin A., Puffenberger, Erik G., Morton, D. Holmes
Publicado em 2012

Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl‐CoA Dehydrogenase Deficiency (GA1): Report of Two Cases

Por Ghatan, Saadi, Kokoszka, Malgosia A., Ranney, Anne M., Strauss, Kevin A.
Publicado no Mov Disord Clin Pract (2016)

Orthopaedic manifestations of glutaric acidemia Type 1

Por Imerci, Ahmet, Strauss, Kevin A., Oleas-Santillan, Geovanny F., Miller, Freeman
Publicado no J Child Orthop (2020)

Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10

Por Sherman, Eric A., Strauss, Kevin A., Tortorelli, Silvia, Bennett, Michael J., Knerr, Ina, Morton, D. Holmes, Puffenberger, Erik G.
Publicado em 2008

Cartilage hair hypoplasia: characteristics and orthopaedic manifestations

Por Riley, Patrick, Weiner, Dennis S., Leighley, Bonnie, Jonah, David, Morton, D. Holmes, Strauss, Kevin A., Bober, Michael B., Dicintio, Martin S.
Publicado no J Child Orthop (2015)

Biochemical correlates of neuropsychiatric illness in maple syrup urine disease

Por Muelly, Emilie R., Moore, Gregory J., Bunce, Scott C., Mack, Julie, Bigler, Don C., Morton, D. Holmes, Strauss, Kevin A.
Publicado em 2013

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: Cobalamin C deficiency (cblC).()

Por Manoli, Irini, Myles, Jennifer G., Sloan, Jennifer L., Carrillo-Carrasco, Nuria, Morava, Eva, Strauss, Kevin A., Morton, Holmes, Venditti, Charles P.
Publicado no Genet Med (2015)

Liver Transplantation for Classical Maple Syrup Urine Disease: Long-Term Follow-Up in 37 Patients and Comparative United Network for Organ Sharing Experience

Por Mazariegos, George V., Morton, D. Holmes, Sindhi, Rakesh, Soltys, Kyle, Nayyar, Navdeep, Bond, Geoffrey, Shellmer, Diana, Shneider, Benjamin, Vockley, Jerry, Strauss, Kevin A.
Publicado em 2011

Classical maple syrup urine disease and brain development: Principles of management and formula design

Por Strauss, Kevin A., Wardley, Bridget, Robinson, Donna, Hendrickson, Christine, Rider, Nicholas L., Puffenberger, Erik G., Shelmer, Diana, Moser, Ann B., Morton, D. Holmes
Publicado em 2010

TNNT1 nemaline myopathy: natural history and therapeutic frontier

Por Fox, Michael D, Carson, Vincent J, Feng, Han-Zhong, Lawlor, Michael W, Gray, John T, Brigatti, Karlla W, Jin, J -P, Strauss, Kevin A
Publicado no Hum Mol Genet (2018)

Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency

Por Motzek, Antje, Knežević, Jelena, Switzeny, Olivier J., Cooper, Alexis, Barić, Ivo, Beluzić, Robert, Strauss, Kevin A., Puffenberger, Erik G., Mudd, S. Harvey, Vugrek, Oliver, Zechner, Ulrich
Publicado no PLoS One (2016)

Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history

Por Carson, Vincent J., Puffenberger, Erik G., Bowser, Lauren E., Brigatti, Karlla W., Young, Millie, Korulczyk, Dominika, Rodrigues, Ashlin S., Loeven, KaLynn K., Strauss, Kevin A.
Publicado no PLoS One (2018)

Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells

Por Yoshikawa, Misato, Go, Shinji, Suzuki, Shun-ichi, Suzuki, Akemi, Katori, Yukio, Morlet, Thierry, Gottlieb, Steven M., Fujiwara, Michihiro, Iwasaki, Katsunori, Strauss, Kevin A., Inokuchi, Jin-ichi
Publicado no Hum Mol Genet (2015)

Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atr...

Por Strauss, Kevin A., Carson, Vincent J., Brigatti, Karlla W., Young, Millie, Robinson, Donna L., Hendrickson, Christine, Fox, Michael D., Reed, Robert M., Puffenberger, Erik G., Mackenzie, William, Miller, Freeman
Publicado no J Pediatr Orthop (2018)

Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder

Por Parker, Whitney E., Orlova, Ksenia A., Parker, William H., Birnbaum, Jacqueline F., Krymskaya, Vera P., Goncharov, Dmitry A., Baybis, Marianna, Helfferich, Jelte, Okochi, Kei, Strauss, Kevin A., Crino, Peter B.
Publicado em 2013

Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease

Por Lohr, Naomi J., Molleston, Jean P., Strauss, Kevin A., Torres-Martinez, Wilfredo, Sherman, Eric A., Squires, Robert H., Rider, Nicholas L., Chikwava, Kudakwashe R., Cummings, Oscar W., Morton, D. Holmes, Puffenberger, Erik G.
Publicado em 2010

Primary Ciliary Dyskinesia-Causing Mutations in Amish and Mennonite Communities

Por Ferkol, Thomas W., Puffenberger, Erik G., Lie, Hauw, Helms, Cynthia, Strauss, Kevin A., Bowcock, Anne, Carson, John L., Hazucha, Milan, Morton, D. Holmes, Patel, Anand C., Leigh, Margaret W., Knowles, Michael R., Zariwala, Maimoona A.
Publicado em 2013

Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier

Por Strauss, Kevin A., Ahlfors, Charles E., Soltys, Kyle, Mazareigos, George V., Young, Millie, Bowser, Lauren E., Fox, Michael D., Squires, James E., McKiernan, Patrick, Brigatti, Karlla W., Puffenberger, Erik G., Carson, Vincent J., Vreman, Hendrik J.
Publicado no Hepatology (2020)

A Homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans

Por Morlet, Thierry, Rabinowitz, Mindy R., Looney, Liesl R., Riegner, Tammy, Greenwood, L. Ashleigh, Sherman, Eric A., Achilly, Nathan, Zhu, Anni, Yoo, Estelle, ÓReilly, Robert C., Jinks, Robert N., Puffenberger, Erik G., Heaps, Adam, Morton, Holmes, Strauss, Kevin A.
Publicado em 2013

A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder

Por Strauss, Kevin A., Markx, Sander, Georgi, Benjamin, Paul, Steven M., Jinks, Robert N., Hoshi, Toshinori, McDonald, Ann, First, Michael B., Liu, Wencheng, Benkert, Abigail R., Heaps, Adam D., Tian, Yutao, Chakravarti, Aravinda, Bucan, Maja, Puffenberger, Erik G.
Publicado no Hum Mol Genet (2014)