Zobrazeno 1 - 10
of 67
pro vyhledávání: '"John M. Shoffner"'
Autor:
John M. Shoffner
Publikováno v:
Journal of Inherited Metabolic Disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::380d53297d88bb9a37b7277bd97a8a50
https://doi.org/10.1002/jimd.12078
https://doi.org/10.1002/jimd.12078
Publikováno v:
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. 45(3)
Background:Neuromuscular disorders are a phenotypically and genotypically diverse group of diseases that can be difficult to diagnose accurately because of overlapping clinical features and nonspecific muscle pathology. Next-generation sequencing (NG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51d4d2a7a076d3ccc3a25c1f180600e0
https://pubmed.ncbi.nlm.nih.gov/29382405
https://pubmed.ncbi.nlm.nih.gov/29382405
Publikováno v:
Pediatric neurology. 80
Background Given the etiologic heterogeneity of disease classification using clinical phenomenology, we employed contemporary criteria to classify variants associated with myoclonic epilepsy with ragged-red fibers (MERRF) syndrome and to assess the s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::680d4ad49cad9d9fbf6384d2ed43af4d
https://pubmed.ncbi.nlm.nih.gov/29449072
https://pubmed.ncbi.nlm.nih.gov/29449072
Autor:
David Griesemer, Marie Josee Raboisson, Carolyn M. Sue, Richard H. Haas, John M. Shoffner, Amel Karaa, Richard E. Frye, Tyler Reimschisel, Russell P. Saneto, Annette Feigenbaum, Mary Kay Koenig, Bruce H. Cohen, Mark A. Tarnopolsky, Michael C. Kruer, Patrick F. Chinnery, Rita Horvath, Mark S. Korson, David Dimmock, Irina Anselm, Amy Goldstein, John Christodoulou, Lynne A. Wolfe, Zarazuela Zolkipli Cunningham, Michelangelo Mancuso, Shana E. McCormack, Marni J. Falk, Shamima Rahman, Sumit Parikh, Peter W. Stacpoole, Gregory M. Enns, Ramona Salvarinova, Clara D.M. van Karnebeek, Jaya Ganesh, Catherine Brunel-Guitton, Fernando Scaglia
Publikováno v:
Genetics in medicine, 19(12). Lippincott Williams and Wilkins
Genet Med
Genet Med
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff7dab044f65234450f14a49929b20b7
https://pure.amc.nl/en/publications/response-to-newman-et-al(27661c79-3f74-4305-82f6-81166948e2a3).html
https://pure.amc.nl/en/publications/response-to-newman-et-al(27661c79-3f74-4305-82f6-81166948e2a3).html
Autor:
Sumit Parikh, Michelangelo Mancuso, Bruce H. Cohen, David Dimmock, Marie Josee Raboisson, Michael C. Kruer, David Griesemer, Catherine Brunel-Guitton, Annette Feigenbaum, John Christodoulou, Mark S. Korson, Carolyn M. Sue, Lynne A. Wolfe, Tyler Reimschisel, Gregory M. Enns, Rita Horvath, Shamima Rahman, Clara D.M. van Karnebeek, Peter W. Stacpoole, Jaya Ganesh, Richard H. Haas, John M. Shoffner, Mark A. Tarnopolsky, Irina Anselm, Patrick F. Chinnery, Mary Kay Koenig, Zarazuela Zolkipli Cunningham, Richard E. Frye, Amel Karaa, Russell P. Saneto, Amy Goldstein, Fernando Scaglia, Marni J. Falk, Ramona Salvarinova, Shana E. McCormack
Publikováno v:
Genetics in medicine, 19(12). Lippincott Williams and Wilkins
Genet Med
Genet Med
The purpose of this statement is to provide consensus-based recommendations for optimal management and care for patients with primary mitochondrial disease. This statement is intended for physicians who are engaged in the diagnosis and management of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00a96e5a72904a8bfe40dded937a58d1
https://pure.amc.nl/en/publications/patient-care-standards-for-primary-mitochondrial-disease-a-consensus-statement-from-the-mitochondrial-medicine-society(f9338908-2d96-49e4-b9c5-2873e42c1949).html
https://pure.amc.nl/en/publications/patient-care-standards-for-primary-mitochondrial-disease-a-consensus-statement-from-the-mitochondrial-medicine-society(f9338908-2d96-49e4-b9c5-2873e42c1949).html
Autor:
John M. Shoffner
Publikováno v:
Neurology. 88(1)
On behalf of my coauthors, I thank Dr. Barrett for the comment on our article.1 Dr. Barrett correctly recognizes that one of the central aspects of our study was to investigate whether a relationship of CSF 5-MTHF levels to symptoms in young children
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fbcffe4e4e3e8a8a33a89742cf55573
https://pubmed.ncbi.nlm.nih.gov/28025401
https://pubmed.ncbi.nlm.nih.gov/28025401
Autor:
John M Shoffner
Publikováno v:
Lancet. 11/9/1996, Vol. 348 Issue 9037, p1283. 6p. 1 Chart, 3 Graphs.
Autor:
Stephanie Cossette, Lauren Hyams, Lisa Ollis, Audra Aliberti, Sara Kuoch, John M. Shoffner, Lauren Mylacraine, Kevin Bennett, Jeffrey Dale, Genevieve Niedziela Langley, Keith Hyland
Publikováno v:
Journal of Child Neurology. 25:429-434
Autistic spectrum disorders encompass etiologically heterogeneous persons, with many genetic causes. A subgroup of these individuals has mitochondrial disease. Because a variety of metabolic disorders, including mitochondrial disease show regression
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::245715510d2249fac6a6444aa09b154e
https://doi.org/10.1177/0883073809342128
https://doi.org/10.1177/0883073809342128
Autor:
Monte A. Del Monte, Berendina De Vries, Arnold London, Wai-Man Chan, Emin Cumhur Sener, Anat Loewenstein, Joseph L. Demer, Elizabeth C. Engle, Nakamichi Saito, Robert P. Cruse, Michael C. Brodsky, A. Nurten Akarsu, Roger H. Johnson, Mark S. Ruttum, Alina A. Zubcov, Alex V. Levin, Naomichi Matsumoto, Blaine L. Hart, Teresa de Berardinis, Lionel Kowal, Ravi Battu, Marlene C. Vogel, Michael O'Keefe, Thomas J. Carlow, Frank Hanisch, Banu T. Öztürk, Caroline Andrews, Robert D. Letson, Moshe Lazar, Eiichiro Uyama, Craig A. McKeown, James A. Katowitz, Scott M. Goldstein, Piergiorgio Franceschini, Richard M. Robb, Lisa Morris, Adriano Magli, Koki Yamada, Peter Roggenkäemper, Nicolas Krawiecki, Willem A. Houtman, John M. Shoffner, Anna Newlin, Elias I. Traboulsi, Irene Gottlob
Publikováno v:
Nature Genetics, 35(4), 318-321. Nature Publishing Group
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::503f38e3254efb202533148c92abe089
https://research.rug.nl/en/publications/7656e8c1-dbb1-45bb-82c1-1fab398a6a9c
https://research.rug.nl/en/publications/7656e8c1-dbb1-45bb-82c1-1fab398a6a9c
Publikováno v:
The American Journal of Gastroenterology. 98:871-877
Disorders of the mitochondrial electron transport chain enzymes of oxidative phosphorylation (OXPHOS) have neurologic, musculoskeletal, ophthalmologic, cardiac, and GI manifestations. Many adult and pediatric patients with disorders of OXPHOS have ab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::570737ca909fb19fef1892fa41d368b8
https://doi.org/10.1111/j.1572-0241.2003.07385.x
https://doi.org/10.1111/j.1572-0241.2003.07385.x