Results 121 to 130 of about 1,995 (205)

847. Safety and Toxicity Profile of Intra-Muscular and Systemic Delivery of a Novel GNE DNA Liposomal Nanoparticle (GDLP) for Gene Therapy of Hereditary Inclusion Body Myopathy (HIBM2) [PDF]

, 2008

openalex   +1 more source

The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin

Frontiers in Genetics
IntroductionGNE-myopathy is a distal myopathy with adult-onset and initial involvement of anterior leg compartment. A founder effect has been demonstrated for some patients from several large cohorts in different countries.MethodsIn this study, we ...
Dmitrii Subbotin, Sofya Ionova, Andrey Marakhonov, Elena Saifullina, Artem Borovikov, Leila Akhmadeeva, Polina Chausova, Oksana Ryzhkova, Rena Zinchenko, Sergey Kutsev, Aysylu Murtazina   +10 more
doaj   +1 more source

Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle [PDF]

, 2011
The hereditary inclusion-body myopathies encompass several syndromes with autosomal recessive or dominant inheritance. Despite a different clinical presentation they all have a progressive course leading to severe disability and share similar pathologic ...
Broccolini, A., Gidaro, T., Mirabella, M., Morosetti, R., Sancricca, C.   +4 more
core   +1 more source

The role of amyloid β in the pathological mechanism of GNE myopathy. [PDF]

Neurol Sci, 2022
Zhang T, Shang R, Miao J.
europepmc   +1 more source

Complications in GNE myopathy patients: A nationwide repository questionnaire survey in Japan [PDF]

, 2021
Wakako Yoshioka, Reiko Shimizu, Yuji Takahashi, Yuriko Oda, Sumiko Yoshida, Nahoko Ishihara, Ichizo Nishino, Harumasa Nakamura, Madoka Mori‐Yoshimura   +8 more
openalex   +1 more source

EHA2024 Hybrid Congress

HemaSphere, Volume 8, Issue S1, June 2024.
wiley   +1 more source

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy

, 2015
Mathieu Cérino, Svetlana Gorokhova, Anthony Béhin, Jon Andoni Urtizberea, Virginie Kergourlay, Eric Salvo, Rafaëlle Bernard, Nicolas Lévy, Marc Bartoli, Martin Krahn   +9 more
openalex   +2 more sources

586. A Single Patient, Multiple Intravenous (IV) Infusion, Clinical Trial of GNE-Lipoplex for Therapy of Hereditary Inclusion Body Myopathy (HIBM) [PDF]

, 2010

openalex   +1 more source

GNE Myopathy and Duchenne Muscular Dystrophy in Two Moroccans Families [PDF]

, 2023
Najat Sifeddine, Ghita Amalou, Majida Charif, Halima Nahili, Aymane Bouzidi, R. Salaheddine, Imane Morjane, Ghizlane Zouiri, Y. Kriouile, Bouchra Elkhalfi, Guy Lenaers, Abdelhamid Barakat   +11 more
openalex   +1 more source

GNE-related thrombocytopenia (Thrombocytopenia-12) in a 3-month-old from a Middle Eastern background infant: a case report

Hematology
Background Congenital thrombocytopenia represents a diagnostically challenging group of disorders due to overlapping clinical presentations among various etiologies.Case Presentation A 3-month-old infant presented with severe thrombocytopenia (platelet ...
Omar Ahmed Alshaikhi, Elaf Yahia Faraj Alnasser   +1 more
doaj   +1 more source