Results 51 to 60 of about 51,591 (290)

Butterfly-Shaped Pattern Dystrophy [PDF]

Archives of Ophthalmology, 2002
To identify the disease-causing mutation in a large family segregating dominantly inherited butterfly-shaped pattern dystrophy (BPD) and to describe the microscopic pathological changes observed in a member of this family.Seventeen individuals at risk for dominantly inherited BPD in a family were examined and blood samples obtained.
Kang, Zhang, Daniel C, Garibaldi, Yang, Li, W Richard, Green, Donald J, Zack   +4 more
openaire   +2 more sources

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

Personality Patterns in Patients With Myotonic Dystrophy [PDF]

Archives of Neurology, 1998
Myotonic dystrophy (DM) is a multisystemic disease. The central nervous system is affected by cognitive, affective, and personality disturbances. A characteristic behavior was noted from the first clinical descriptions, but no definitive conclusions have been drawn despite extensive debate. As DM is a genetic disease of well-defined abnormality, it may
openaire   +2 more sources

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

An investigation of emerin and nuclear lamins: : Interactions, distribution, and role in cell cycle regulation, in cells derived from EDMD patients. [PDF]

, 2002
Emery Dreifuss muscular dystrophy (EDMD) is caused by mutations either in the gene encoding emerin or in the gene encoding A-type lamins (lamins A and C).
Maria, Choleza
core  

Targeting the PDK1/c‐Myc/SOX10 Signaling in Oligodendrocytes Alleviates Neuropathic Pain

Advanced Science, EarlyView.
This work reveals that oligodendrocyte homeostasis, mediated by PDK1, is a critical determinant of neuropathic pain (NPP) pathogenesis. Disruption of PDK1 in oligodendrocytes impairs SOX10‐dependent myelination programs through c‐Myc accumulation, leading to disrupted myelination and the pathophysiology of NPP.
Pingping Qiao, Lifang Guo, Guochao Yang, Chaoli Huang, He Wang, Jian‐Jun Yang, Guiquan Chen, Yimin Hu   +7 more
wiley   +1 more source

A Case Report of Successful Cataract Surgery in Theil-Behnke Corneal Dystrophy: A Visual Rehabilitation for the Patient

Case Reports in Ophthalmology
Introduction: Thiel-Behnke corneal dystrophy is a rare inherited condition characterized by symmetrical subepithelial corneal opacities that gradually reduce vision. It is an autosomal dominant inherited epithelial stromal TGFB1 dystrophy that
Radhika Paranjpe, Varsha Manade, Preethi Abraham, Khushboo Goyal, Surbhi Chodvadiya   +4 more
doaj   +1 more source

Electrophysiological findings of Bardet–Biedl syndrome: a case series

Journal of the Egyptian Ophthalmological Society, 2020
Background Bardet–Biedl syndrome (BBS) is a very rare autosomal recessive genetic disease with multiple manifestations including the ocular system. Aim This study presents different electrophysiological and clinical findings in three female patients with
Marwa A Tabl
doaj   +1 more source

Limb Girdle Muscular Dystrophy (LGMD): Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2015
We report a young male of autosomal recessive limb girdle muscular dystrophy (LGMD) with positive family history presented with gradual onset proximal muscle weakness in all four limbs since eight years and thinning of shoulders, arms and thighs ...
Shubhangi A. Kanitkar, Meenakshi Kalyan, Anu N. Gaikwad, Ankit Makadia, Harshad Shah   +4 more
doaj   +1 more source