Results 131 to 140 of about 3,572 (228)

Diffuse Anaplastic Wilms Tumor in a Child With LAMA2 -related Muscular Dystrophy. [PDF]

J Pediatr Hematol Oncol, 2022
Shah R, Mohamed D, Ramos-Platt LM, Grikscheit TC, Zhou S, Wong KK, Mascarenhas L.   +6 more
europepmc   +1 more source

[Congenital muscular dystrophy and merosin deficiency].

Arquivos de neuro-psiquiatria, 1998
Merosin alpha 2 chain, an extracellular matrix protein, is deficient in a proportion of patients with classical congenital muscular dystrophy (CMD). A study of clinical, laboratory and histopathological features of 18 patients with CMD was performed in relation to the merosin expression in muscle biopsy.
L C, Werneck, R H, Scola, F M, Iwamoto
openaire   +1 more source

Fukuyama Congenital Muscular Dystrophy. [PDF]

Cureus, 2022
Agarwal A, Sabat S, Kanekar S.
europepmc   +1 more source

Primer registro de las especies Neolimnius Palpalis Hinton y Pilielmis Apama Hinton (Coleoptera: Elmidae: Elminae) para Colombia y la cuenca del río Orinoco [PDF]

, 2015
Se registran por primera vez para Colombia y la cuenca del río Orinoco (Departamento del Meta -Mapiripán), los géneros y las especies de Neolimnius palpalis y Pilielmis apama, las cuales sólo estaban citadas en tierras bajas, 25 a 90 metros sobre el ...
González Córdoba, Marcela, Manzo, María Verónica, Torres Zambrano, Nestor Ned, Zuñiga, Maria del Carmen   +3 more
core  

JADID NAMOYONDALARI MEROSINING BUGUNGI KUNDAGI AHAMIYATI

TAMADDUN NURI JURNALI
In this article, an opinion is expressed about the scientific heritage of Jadids, which came to the field of history as an educational, socio-political movement at the end of the XIX th century and the beginning of the XX th century. It is noted that the scientific and educational heritage of the ancients is similar to the educational policy ...
openaire   +1 more source

Impaired fetal muscle development and JAK-STAT activation mark disease onset and progression in a mouse model for merosin-deficient congenital muscular dystrophy

Human Molecular Genetics, 2017
A. Nunes, R. Wuebbles, A. Sarathy, Tatiana M Fontelonga, Marianne Deries, D. Burkin, S. Thorsteinsdóttir   +6 more
semanticscholar   +1 more source

Merosin-Deficient Congenital Muscular Dystrophy Type 1A

Definitions, 2020

semanticscholar   +1 more source

Classification of Neuromuscular Disorders Based an Clinical Criteria , Molocular and Immunohistochemisty Analysis in Tehran Pateints

Journal of Rehabilitation, 2005
Objective: Neuromuscular disordres are a gorup of heterogenous inherited diseases. More than 150 types of these group of disorders have been known.The criticals that were used for classification of these disease include: age of onset, clinical course ...
Kimia Kahrizi, Yousef Shafaghati, Elaheh Keyhani, Mandana Hassan-Zad, Mojtaba A'zimiyan, Fereidoun Layeghi, Afshin Vojdani-Rowshan, John Andoni-Ortizbera, Daniel Hentay, Hossein Najm-Abadi   +9 more
doaj  

<i>LAMA2</i> variants associated with muscular dystrophy, brain structural abnormalities, and epilepsy: a genotype-phenotype study. [PDF]

Front Neurol
Zha J, Yu Y, Cao F, Yi Z, Wu H, Chen Y, Zhong J, Yu X.   +7 more
europepmc   +1 more source

Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum. [PDF]

Sci Rep, 2023
Summa S, Ittiwut C, Kulsirichawaroj P, Paprad T, Likasitwattanakul S, Sanmaneechai O, Boonsimma P, Suphapeetiporn K, Shotelersuk V.   +8 more
europepmc   +1 more source