Results 111 to 120 of about 35,422 (230)

Congenital Muscular Dystrophies and Cognitive Impairment

Pediatric Neurology Briefs, 2010
Reserchers at the Department of Paediatric Neurology, Catholic University, Rome and other Italian centers specializing in neuromuscular disease studied the prevalence of congenital muscular dystrophy (CMD) in the Italian population, and the frequency of ...
J Gordon Millichap
doaj   +1 more source

Motor function evaluation in merosin-deficient congenital muscular dystrophy children [PDF]

, 2005
Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders characterized by early onset of hypotonia and weakness. Almost 50% of the cases are caused by primary deficiency of a protein named merosin (MD), and present a homogenous phenotype
Beteta, Javier Toledano, Fernandes, Antônio Carlos, Luz, Fernanda H. Gianini, Oliveira, Acary Souza Bulle, Rocco, Fernanda M., Rossato, Alexsander Junquera, Zanoteli, Edmar   +6 more
core   +3 more sources

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns

Journal of Clinical Laboratory Analysis, Volume 40, Issue 3, February 2026.
Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley   +1 more source

Distrofia muscular progressiva: alguns aspectos do diagnõstico diferencial

Arquivos de Neuro-Psiquiatria, 1960
The authors call attention to some clinical entities which are less known and more difficult to recognize and with which differential diagnosis of progressive muscular dystrophy should be made (infantile spinal muscular atrophy, amyotonia congenita ...
Sylvio Saraiva, Aron J. Diament, José Antonio Levy   +2 more
doaj   +1 more source

A practical approach to the patient presenting with dropped head [PDF]

, 2016
Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core   +1 more source

Largely Distinct Post‐Translational Modifications Differentiate Skeletal Muscle Wasting Caused by Cancer, Dexamethasone and Aging

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background Skeletal muscle wasting and weakness are prominent disease features. Originally considered to arise from common transcriptional changes, recent analyses demonstrated that different stimuli induce muscle wasting via largely distinct mRNA and protein changes.
Anna Stephan, Flavia A. Graca, Suresh Poudel, Yingxue Fu, Yong‐Dong Wang, Myriam Labelle, Fabio Demontis   +6 more
wiley   +1 more source

Knockdown of INPP5K compromises the differentiation of N2A cells

Frontiers in Molecular Neuroscience
Inositol polyphosphate 5-phosphatase K (INPP5K), also known as SKIP (skeletal muscle and kidney-enriched inositol phosphatase), is a cytoplasmic enzyme with 5-phosphatase activity toward phosphoinositides (PIs).
Annamaria Manzolillo, Lennart Gresing, Christian A. Hübner, Christian A. Hübner, Patricia Franzka   +4 more
doaj   +1 more source

Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders

Skeletal Muscle, 2011
Background Investigations into both the pathophysiology and therapeutic targets in muscle dystrophies have been hampered by the limited proliferative capacity of human myoblasts.
Mamchaoui Kamel, Trollet Capucine, Bigot Anne, Negroni Elisa, Chaouch Soraya, Wolff Annie, Kandalla Prashanth K, Marie Solenne, Di Santo James, St Guily Jean, Muntoni Francesco, Kim Jihee, Philippi Susanne, Spuler Simone, Levy Nicolas, Blumen Sergiu C, Voit Thomas, Wright Woodring E, Aamiri Ahmed, Butler-Browne Gillian, Mouly Vincent   +20 more
doaj   +1 more source

Atypical Phenotype in Two Patients with LAMA2 Mutations [PDF]

, 2014
Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the a2-chain of laminin. We report two patients with partial laminin-a2 deficiency and atypical phenotypes, one with almost exclusive central nervous system ...
Bronze-da-Rocha, E, Calado, E, Costa, S, Duarte, S, Evangelista, T, Jacinto, S, Marques, J, Oliveira, J, Oliveira, M, Santos, R, Silvestre, AR   +10 more
core   +1 more source

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations

Clinical Genetics, Volume 109, Issue 2, Page 356-362, February 2026.
Biallelic COL4A2 variants cause a spectrum of brain abnormalities such as brain small vessel disease (BSVD). We describe two cases—one with cerebrovascular disruption and one with cortical malformations—expanding the recessive phenotype. Protein modeling reveals destabilization by p.(Arg179Cys), reinforcing its pathogenic role and highlighting collagen
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Reihaneh Khorasanian, Mariasavina Severino, Morteza Doustmohammadi, Francesca Madia, Siddharth Srivastava, Aisling Quinlan, Dario Paladini, Federico Zara, Marcello Scala   +11 more
wiley   +1 more source