Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Hernan D. Gonorazky"'
Autor:
Ege Sarikaya, Nesrin Sabha, Jonathan Volpatti, Emanuela Pannia, Nika Maani, Hernan D. Gonorazky, Alper Celik, Yijng Liang, Paula Onofre-Oliveira, James J. Dowling
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 7 (2022)
X-linked myotubular myopathy (XLMTM) is a severe monogenetic disorder of the skeletal muscle. It is caused by loss-of-expression/function mutations in the myotubularin (MTM1) gene. Much of what is known about the disease, as well as the treatment str
Externí odkaz:
https://doaj.org/article/00e21e3cffdc4d9fbf0a56fd56b7ca81
Autor:
Lena, Xiao, Jackie, Chiang, Maria, Castro-Codesal, Hanna, Kolski, Prabhjot, Bedi, Fatema, Al Amrani, Hernan D, Gonorazky, Reshma, Amin
Publikováno v:
Pediatric Pulmonology. 58:161-170
Spinal muscular atrophy type 1 (SMA1) is a neuromuscular disorder with a natural history of chronic respiratory failure and death during infancy without ventilation. Recently, disease-modifying therapies such as nusinersen have improved disease traje
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55c25865d0b79a8f292eca32dd57cd29
https://doi.org/10.1002/ppul.26173
https://doi.org/10.1002/ppul.26173
Autor:
Fatima, Al Amrani, Reshma, Amin, Jackie, Chiang, Lena, Xiao, Jennifer, Boyd, Eugenia, Law, Elisa, Nigro, Lauren, Weinstock, Ana, Stosic, Hernan D, Gonorazky
Publikováno v:
Neurology: Clinical Practice. 12:279-287
Background and ObjectivesThe introduction of spinal muscular dystrophy (SMA)-modifying therapies, such as antisense oligonucleotide therapy, has changed the natural history of SMA. Most reports on treatment outcomes have focused on motor scores and r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f896e3a2bb0718482ae81f2ffc681f58
https://doi.org/10.1212/cpj.0000000000001179
https://doi.org/10.1212/cpj.0000000000001179
Autor:
Deepak Menon, Hernan D. Gonorazky, James J. Dowling, Laura McAdam, Tasjeel Ansari, Jiri Vajsar, Grace Yoon, Vera Bril, Hans Katzberg
Publikováno v:
Neuromuscular Disorders. 32:206-212
Transition in paediatric health care refers to the planned process of shifting to an adult model of care and is highly individualised, patient focussed and requires a coordinated effort from different health care professionals. Through this retrospec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d6cc34ec4180adcfa37c9a4b7317c42
https://doi.org/10.1016/j.nmd.2021.12.002
https://doi.org/10.1016/j.nmd.2021.12.002
Autor:
Ivanna Yau, Carolina Gorodetsky, George M. Ibrahim, Alfonso Fasano, Han Yan, Aria Fallah, Cristina Go, Sara Breitbart, Lauren Siegel, Suneil K. Kalia, Alexander G. Weil, Elizabeth J. Donner, Hernan D Gonorazky
Publikováno v:
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 37(2)
Deep brain stimulation (DBS) is a common tool for the treatment of movement disorders in adults; however, it remains an emerging treatment modality in children with a growing number of indications, including epilepsy and dystonia. The Child & Youth C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e512fb08aefbf41627e9458052023bc
https://pubmed.ncbi.nlm.nih.gov/32935233
https://pubmed.ncbi.nlm.nih.gov/32935233
Publikováno v:
Handbook of clinical neurology. 148
Congenital myopathies are a clinically and genetically heterogeneous group of conditions that most commonly present at or around the time of birth with hypotonia, muscle weakness, and (often) respiratory distress. Historically, this group of disorder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::016cf3c9e2dd9e4f6d8ef9f0bf7075c7
https://pubmed.ncbi.nlm.nih.gov/29478600
https://pubmed.ncbi.nlm.nih.gov/29478600
Autor:
Grace Yoon, Elysa Widjaja, Jiri Vajsar, James J. Dowling, Hernan D. Gonorazky, Kimberly Amburgey
Publikováno v:
Musclenerve. 56(5)
Metachromatic leukodystrophy (MLD) is a progressive white matter disease caused by mutations in the ARSA gene1. There are 3 clinical subtypes that vary based on age of onset and severity of presentation. The most severe subtype is the late infantile
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8a56cf9091750153786a29698494ed1
https://pubmed.ncbi.nlm.nih.gov/28667691
https://pubmed.ncbi.nlm.nih.gov/28667691