Results 41 to 50 of about 2,725,444 (278)

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. [PDF]

, 2014
Using a combination of exome sequencing and linkage analysis, we investigated an English family with two affected siblings in their 40s with recessive Charcot-Marie Tooth disease type 2 (CMT2).
Baets, J, Bansagi, B, Bartsakoulia, M, Bettencourt, C, Brandner, S, Chabrol, E, Choi, BO, Chung, KW, Cottenie, E, Franke, A, Gonzalez, M, Hanna, MG, Harms, M, Hausmanowa-Petrusewicz, I, Horga, A, Horvath, R, Houlden, H, Jaunmuktane, Z, Jordanova, A, Kabzińska, D, Kochanski, A, Laura, M, Lim, SC, Lunn, MP, Moroni, I, Nikolic, M, Pareyson, D, Ploski, R, Quinlivan, R, Rasic, VM, Reilly, MM, Saveri, P, Schilhabel, M, Song, H, Sweeney, MG, Taroni, F, Teterycz, P, von Au, K, Zimon, M, Zuchner, S   +39 more
core   +1 more source

A statistical approach to latent dynamic modeling with differential equations [PDF]

arXiv, 2023
Ordinary differential equations (ODEs) can provide mechanistic models of temporally local changes of processes, where parameters are often informed by external knowledge. While ODEs are popular in systems modeling, they are less established for statistical modeling of longitudinal cohort data, e.g., in a clinical setting. Yet, modeling of local changes
arxiv  

The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands [PDF]

, 1996
A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad and heterogeneous entity of limb girdle muscular dystrophy (LGMD).
Bakker, E. (Egbert), Barth, P.G. (Peter), Bolhuis, P.A. (P.), Busch, H.F.M. (Herman), Essen, J.A. (Anthonie) van, Ginjaar, I.B. (Ieke), Haan, R.J. (Rob) de, Hooff, L.J.M.A. (L. J M A) van, Höweler, C.J. (Chris), Jennekens, F.G.I. (Frans G.), Jongen, P. (P.), Kooj, A.J. (Anneke), Ommen, G.J. (Gert) van, Oosterhuis, H.J.G.H. (H. J G H), Padberg, B. (Barbara), Spaans, F. (F.), Visser, M. (Marianne) de, Wintzen, A.R. (Axel), Wokke, J.H.J. (John)   +18 more
core   +1 more source

GARS- related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment [PDF]

, 2020
The majority of patients with spinal muscular atrophy (SMA) identified to date harbor a biallelic exonic deletion of SMN1. However, there have been reports of SMA- like disorders that are independent of SMN1, including those due to pathogenic variants ...
Antonellis, Anthony, Bernes, Saunder, Bharucha‐goebel, Diana, Bi, Weimin, Bonnemann, Carsten, Crosby, Kathleen, Ghosh, Rajarshi, Hong, William, Kuo, Molly E., Lim, Jaehyung, Lotze, Timothy, Manberg, Stephanie, Markovitz, Rebecca, Mizerik, Elizabeth, Mohila, Carrie A., Potocki, Lorraine, Tanpaiboon, Pranoot, Woodbury, Suzanne, Xiao, Rui   +18 more
core   +1 more source

Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region.

Proceedings of the National Academy of Sciences of the United States of America, 1993
The childhood spinal muscular atrophies (SMAs) are the most common, serious neuromuscular disorders of childhood second to Duchenne muscular dystrophy.
P. Kleyn, Ching H. Wang, Lyndon L. LIENtt, Emilia Vitale, Jie Pan, Barbara M. Ross, A. Grunn, David A. Palmer, Dorothy Warburton, Linda M. Brzustowicz, Louis M. KUNKELt, T. C. Gilliam   +11 more
semanticscholar   +1 more source

Diagnosis and Analysis of Celiac Disease and Environmental Enteropathy on Biopsy Images using Deep Learning Approaches [PDF]

, 2020
Celiac Disease (CD) and Environmental Enteropathy (EE) are common causes of malnutrition and adversely impact normal childhood development. Both conditions require a tissue biopsy for diagnosis and a major challenge of interpreting clinical biopsy images to differentiate between these gastrointestinal diseases is striking histopathologic overlap ...
arxiv   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron, Remika Mito, Samuel F. Berkovic, Graeme D. Jackson   +3 more
wiley   +1 more source

Molecular analysis of the SMN1 and NAIP genes in Iranian patients with spinal muscular atrophy.

Annals of the Academy of Medicine, Singapore, 2007
INTRODUCTION Childhood-onset proximal spinal muscular atrophies (SMAs) are an autosomal recessive, clinically heterogeneous group of neuropathies characterised by the selective degeneration of anterior horn cells.
P. Derakhshandeh-peykar, Mohsen Esmaili, Z. Ousati-Ashtiani, M. Rahmani, F. Babrzadeh, Shahla Farshidi, E. Attaran, Mohammad Mehdi Sajedifar, D. Farhud   +8 more
semanticscholar   +1 more source

Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional and longitudinal analyses of myostatin levels in treated SMA patients.
Fiorella Piemonte, Sara Petrillo, Anna Capasso, Giorgia Coratti, Adele D'Amico, Michela Catteruccia, Maria Carmela Pera, Concetta Palermo, Marika Pane, Emanuela Abiusi, Gianpaolo Cicala, Marianna Villa, Chiara Bravetti, Chiara Arpaia, Agnese Novelli, Salvatore Falqui, Stefania Fiori, Giulia Napoli, Silvia Baroni, Francesco Danilo Tiziano, Enrico Bertini, Giacomo Comi, Stefania Corti, Eugenio Mercuri   +23 more
wiley   +1 more source