Results 91 to 100 of about 176,213 (311)

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

A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family [PDF]

International Journal of Ophthalmology
AIM: To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.
Zhi-Bo Lin, Chun-Yun Feng, Jin Li, An-Peng Pan, Hai-Sen Sun, A-Yong Yu, Shi-Hao Chen   +6 more
doaj   +1 more source

Evidence for a pathogenic role of different mutations at codon 188 of PRNP [PDF]

, 2008
Clinical and pathological changes in familial Creutzfeldt-Jakob disease (CJD) cases may be similar or indistinguishable from sporadic CJD. Therefore determination of novel mutations in PRNP remains of major importance.
Eva-Maria Grasbon-Frodl, Hans A Kretzschmar, Roeber, Sigrun, Arzberger, Thomas, Sigrun Roeber, Weber Petra, Krebs, Bjarne, Schröter, Andreas, Petra Weber, Illig, T., Zerr, I., Schröter, A., Arzberger, T., Illig Thomas, Windl, Otto, Bjarne Krebs, Wei Xiang, Hans A. Kretzschmar, Schroeter, Andreas, Kretzschmar, H.A., Inga Zerr, Grasbon-Frodl, Eva-Maria, Weber, Petra, Windl, O., Zerr, Inga, Schröter Andreas, Kretzschmar, Hans A., Xiang, W., Xiang Wei, Illig, Thomas, Zerr Inga, Thomas Illig, Vollmert, C., Grasbon-Frodl Eva-Maria, Kretzschmar Hans A., Caren Vollmert, Weber, P., Krebs Bjarne, Grasbon-Frodl, E.M., Krebs, B., Vollmert Caren, Vollmert, Caren, Roeber Sigrun, Xiang, Wei, Arzberger Thomas, Roeber, S., Windl Otto, Andreas Schröter, Otto Windl, Thomas Arzberger   +49 more
core   +1 more source

GJC2 Missense Mutations Cause Human Lymphedema [PDF]

The American Journal of Human Genetics, 2010
Lymphedema is the clinical manifestation of defects in lymphatic structure or function. Mutations identified in genes regulating lymphatic development result in inherited lymphedema. No mutations have yet been identified in genes mediating lymphatic function that result in inherited lymphedema.
Ferrell, Robert E., Baty, Catherine J., Kimak, Mark A., Karlsson, Jenny M., Lawrence, Elizabeth C., Franke-Snyder, Marlise, Meriney, Stephen D., Feingold, Eleanor, Finegold, David N.   +8 more
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

Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome

Case Reports in Genetics, 2017
Congenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait. The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races.
Thi Kim Lien Nguyen, Van Dem Pham, Thu Huong Nguyen, Trung Kien Pham, Thi Quynh Huong Nguyen, Huy Hoang Nguyen   +5 more
doaj   +1 more source

The clinical characteristics of families with hypertrophic cardiomyopathy associated with mutations of cardiac myosin binding protein C

, 2010
Introduction: Mutations in cardiac myosin binding protein-C (MYBPC3), the most common genetic cause of hypertrophic cardiomyopathy (HCM), have been reported to cause a comparatively benign and late-onset form of the disease with incomplete penetrance ...
Page, S.P.
core  

A Recessive Mutation Resulting in a Disabling Amino Acid Substitution (T194R) in the LHX3 Homeodomain Causes Combined Pituitary Hormone Deficiency [PDF]

, 2012
Background/Aims: Recessive mutations in the LHX3 homeodomain transcription factor gene are associated with developmental disorders affecting the pituitary and nervous system. We describe pediatric patients with combined pituitary hormone deficiency (CPHD)
Hiedl, Stefan, Duran-Prado, Mario, Lohse, Peter, Roeb, Julia, Rhodes, Simon J., Malik, Raleigh E., Bechtold-Dalla Pozza, Susanne, Park, Soyoung   +7 more
core   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

A novel missense mutation (FGG c.1168G > T) in the gamma chain of fibrinogen causing congenital hypodysfibrinogenemia with bleeding phenotype

Hereditas
Background Fibrinogen plays pivotal roles in multiple biological processes. Genetic mutation of the fibrinogen coding genes can result in congenital fibrinogen disorders (CFDs).
Nuo Xu, Liping Zheng, Zhehao Dai, Jun Zhu, Peng Xie, Shun Yang, Fei Chen   +6 more
doaj   +1 more source