Results 111 to 120 of about 2,985,698 (230)

Myopathy With Exercise‐Induced Intolerance due to Novel Biallelic Variants in OBSCN—A Clinical, Morphological and Molecular Analysis

Neuropathology and Applied Neurobiology, Volume 52, Issue 1, February 2026.
The phenotype of OBSCN variants consists of exercise intolerance ranging from myalgia and cramps to rhabdomyolysis. Symptoms are mainly induced by high‐intensity sports. Molecular analysis showing a deregulation of muscle processes associated with Ca2+ regulation, extrasarcolemmal integrity and autophagy emphasised the critical role of obscurin in ...
Heidrun H. Krämer‐Best, Marlen C. Reis, Andreas Hentschel, Michaela Weiß, Alexander Schaiter, Klaus‐Dieter Böhm, Andreas Roos, Dagmar Nolte, Anne Schänzer   +8 more
wiley   +1 more source

Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother [PDF]

, 2009
Arthrogryposis multiplex congenita is characterized by non-progressive, multiple joint contractures present at birth. The major cause of arthrogryposis is fetal akinesia due to fetal abnormalities like neurogenic, muscle, connective tissue abnormalities ...
Kumar, Arvind, Taksande, AM, Vilhekar, KY   +2 more
core  

Myotonic Dystrophy—A Progeroid Disease?

Frontiers in Neurology, 2018
Myotonic dystrophies (DM) are slowly progressing multisystemic disorders caused by repeat expansions in the DMPK or CNBP genes. The multisystemic involvement in DM patients often reflects the appearance of accelerated aging. This is partly due to visible
Peter Meinke, Stefan Hintze, Sarah Limmer, Benedikt Schoser   +3 more
doaj   +1 more source

Functions of the Muscleblind-like protein family and their role in disease

Cell Communication and Signaling
Conserved proteins are characterized by their functions remaining nearly constant throughout evolutionary history, both vertically through time and horizontally across species.
Hui Zhou, Jiachi Xu, Liusheng Pan
doaj   +1 more source

Prevalence of myotonic dystrophy in Iceland [PDF]

, 2007
Neðst á síðunni er hægt er að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenOBJECTIVE: Epidemiologic studies of Myotonic Dystrophy (Dystrophic Myotony, DM) have shown variable regional prevalence from 0,46 to 189/105.
Gerður Leifsdóttir, Guðjón Jóhannesson, John Benedikz, Jón Jóhannes Jónsson, Sigurlaug Svein­björnsdóttir   +4 more
core  

TALEN-Induced Double-Strand Break Repair of CTG Trinucleotide Repeats

Cell Reports, 2018
Summary: Trinucleotide repeat expansions involving CTG/CAG triplets are responsible for several neurodegenerative disorders, including myotonic dystrophy and Huntington’s disease. Because expansions trigger the disease, contracting repeat length could be
Valentine Mosbach, Lucie Poggi, David Viterbo, Marine Charpentier, Guy-Franck Richard   +4 more
doaj   +1 more source

Glasgow Contributions to the Human Gene Mapping Project, 1959-1987 [PDF]

, 2015
No abstract ...
Ferguson-Smith, Malcolm
core  

In vivo assessment of muscle membrane properties in myotonic dystrophy [PDF]

, 2016
INTRODUCTION: Myotonia in myotonic dystrophy types 1 (DM1) and 2 (DM2) is generally attributed to reduced chloride channel conductance. We used muscle velocity recovery cycles (MVRCs) to investigate muscle membrane properties in DM1 and DM2, with ...
Bostock, H, Boërio, D, Hanna, MG, Tan, SV, Turner, C, Z'Graggen, WJ   +5 more
core  

From molecular convergence to clinical divergence: Comparative pathogenic mechanisms and therapeutic trajectories in C9orf72-ALS/FTD and myotonic dystrophy

Neurobiology of Disease
Short tandem repeat expansions in C9orf72, DMPK, and CNBP genes cause amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) and myotonic dystrophy types 1 and 2 (DM1/DM2), respectively.
Claudia Alberti, Valeria Parente, Stefania Corti, Valeria Ada Sansone   +3 more
doaj   +1 more source

The impact of molecular biology on clinical neurology. [PDF]

, 2001
Advances in molecular biology have increased our understanding of both inherited and sporadic forms of neurological disease. In this review, the impact of these advances is discussed in relation to specific neurological conditions.
Ho, SL, Mak, W
core