One Community’s Effort to Control Genetic Disease

Yazar: Strauss, Kevin A., Puffenberger, Erik G., Morton, D. Holmes
Baskı/Yayın Bilgisi 2012

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

Yazar: Ghatan, Saadi, Kokoszka, Malgosia A., Ranney, Anne M., Strauss, Kevin A.
Yayımlandı Mov Disord Clin Pract (2016)

Orthopaedic manifestations of glutaric acidemia Type 1

Yazar: Imerci, Ahmet, Strauss, Kevin A., Oleas-Santillan, Geovanny F., Miller, Freeman
Yayımlandı J Child Orthop (2020)

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

Yazar: Sherman, Eric A., Strauss, Kevin A., Tortorelli, Silvia, Bennett, Michael J., Knerr, Ina, Morton, D. Holmes, Puffenberger, Erik G.
Baskı/Yayın Bilgisi 2008

Cartilage hair hypoplasia: characteristics and orthopaedic manifestations

Yazar: Riley, Patrick, Weiner, Dennis S., Leighley, Bonnie, Jonah, David, Morton, D. Holmes, Strauss, Kevin A., Bober, Michael B., Dicintio, Martin S.
Yayımlandı J Child Orthop (2015)

Biochemical correlates of neuropsychiatric illness in maple syrup urine disease

Yazar: Muelly, Emilie R., Moore, Gregory J., Bunce, Scott C., Mack, Julie, Bigler, Don C., Morton, D. Holmes, Strauss, Kevin A.
Baskı/Yayın Bilgisi 2013

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

Yazar: Manoli, Irini, Myles, Jennifer G., Sloan, Jennifer L., Carrillo-Carrasco, Nuria, Morava, Eva, Strauss, Kevin A., Morton, Holmes, Venditti, Charles P.
Yayımlandı 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

Yazar: Mazariegos, George V., Morton, D. Holmes, Sindhi, Rakesh, Soltys, Kyle, Nayyar, Navdeep, Bond, Geoffrey, Shellmer, Diana, Shneider, Benjamin, Vockley, Jerry, Strauss, Kevin A.
Baskı/Yayın Bilgisi 2011

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

Yazar: Strauss, Kevin A., Wardley, Bridget, Robinson, Donna, Hendrickson, Christine, Rider, Nicholas L., Puffenberger, Erik G., Shelmer, Diana, Moser, Ann B., Morton, D. Holmes
Baskı/Yayın Bilgisi 2010

TNNT1 nemaline myopathy: natural history and therapeutic frontier

Yazar: Fox, Michael D, Carson, Vincent J, Feng, Han-Zhong, Lawlor, Michael W, Gray, John T, Brigatti, Karlla W, Jin, J -P, Strauss, Kevin A
Yayımlandı Hum Mol Genet (2018)

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

Yazar: 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
Yayımlandı PLoS One (2016)

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

Yazar: 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.
Yayımlandı PLoS One (2018)

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

Yazar: 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
Yayımlandı 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...

Yazar: 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
Yayımlandı J Pediatr Orthop (2018)

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

Yazar: 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.
Baskı/Yayın Bilgisi 2013

Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease

Yazar: 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.
Baskı/Yayın Bilgisi 2010

Primary Ciliary Dyskinesia-Causing Mutations in Amish and Mennonite Communities

Yazar: 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.
Baskı/Yayın Bilgisi 2013

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

Yazar: 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.
Yayımlandı Hepatology (2020)

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

Yazar: 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.
Baskı/Yayın Bilgisi 2013

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

Yazar: 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.
Yayımlandı Hum Mol Genet (2014)