Results 191 to 200 of about 3,572 (228)

Merosin-deficient congenital muscular dystrophy and cortical dysplasia

European Journal of Paediatric Neurology, 1998
Congenital muscular dystrophy (CMD) encompasses a heterogenous group of muscle disorders with autosomal recessive inheritance, characterized by muscular weakness and hypotonia at birth or within the first few months of life and developmental delay.
F M, Brett, D, Costigan, M A, Farrell, P, Heaphy, J, Thornton, M D, King   +5 more
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Whole exome sequencing identified a novel LAMA2 frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior

Neuromuscular Disorders, 2022
Z. Nouri, Akram Sarmadi, Sina Narrei, M. Sehhati, Mohammad Amin Tabatabaiefar   +4 more
semanticscholar   +1 more source

Localization of merosin in the normal human brain: implications for congenital muscular dystrophy with merosin deficiency.

Journal of submicroscopic cytology and pathology, 1996
A particular form of congenital muscular dystrophy with merosin deficiency has recently been described. Magnetic resonance imaging has shown that affected children show brain abnormalities. We investigate the localization of merosin in the normal human brain by immunohistochemistry.
Villanova, M., Malandrini, A., Toti, P., Salvestroni, R., Six, J., Martin, J. J., Guazzi, G. C.   +6 more
openaire   +3 more sources

Severe classical congenital muscular dystrophy and merosin expression

Clinical Genetics, 1998
Vajsar J, Chitayat D, Becker LE, Ho M, Ben‐Zeev B, Jay V. Severe classical congenital muscular dystrophy and merosin expression. Clin Genet 1998: 54: 193–198. 0 Munksgaard, 1998It has been suggested that patients with autosomal recessive merosin deficient congenital muscular dystrophy (CMD), as opposed to the merosin positive cases form a homogeneous ...
J, Vajsar, D, Chitayat, L E, Becker, M, Ho, B, Ben-Zeev, V, Jay   +5 more
openaire   +2 more sources

Prenatal diagnosis in merosin-deficient congenital muscular dystrophy

Neuromuscular Disorders, 1997
Prenatal diagnosis was carried out in five merosin-deficient congenital muscular dystrophy (CMD) families. We studied both laminin-alpha 2 chain expression in trophoblast using immunocytochemistry and linkage analysis to the LAMA2 locus. In four families there was good agreement between the immunocytochemistry and linkage analysis results: in one case ...
Naom I., Sewry C., D'Alessandro M., Topaloglu H., FERLINI, Alessandra, Wilson L., Dubowitz V., Muntoni F.   +7 more
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FITRAT IJODIY MEROSINING O'RGANILISHI

Maqolada Fitrat ijodiy merosining o‘zbek adabiyotidagi o‘rni va ahamiyati o‘rganilgan.
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SUHAYLIY ADABIY MEROSINING MAVZU KO'LAMI

ushbu tezisda XX asr boshlari Namangan adabiy harakatchiligida o‘ziga xos o‘rniga ega bo‘lgan Dadaxon qori Rustamxo‘ja o‘g‘li Suhayliy adabiy merosining mavzu ko’lami “Yodgorim” to‘plami asosida o‘rganiladi va xulosalar beriladi.
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TIL MADANIY MEROSINING O'LMAS TARIXI

Til kishilik jamiyatida kishilarning aloqa qilishiga xizmat qiladigan ijtimoiy hodisa bo’lib, insoniyatning tarixiy taraqqiyot jarayonida yaratgan barcha madaniy-ma’naviy va ilmiy boyliklarini ifodalaydigan, uni avloddan avlodga meros qoldiradigan asosiy vosita hisoblanadi.
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TURKISTON JАDIDLАRI MEROSINING QOZOG'ISTONDА O'RGАNILISHI

Mazkur maqolada Qozog‘istonda taʼlim o‘zbek tilida olib boriladigan umumtaʼlim maktablarida Turkiston jadidlari merosining  o‘rganilishi masalalari tadqiq qilinadi.
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MILLIY MUSIQA MEROSINING SHAKLLANISH BOSQICHLARI.

Shashmaqom  XVIII  asr  o‘rtalarida Buxoroda saroy kasbiy musiqachilari va musiqashunos olimlari tomonidan olti maqomdan iborat turkum tarzida ifoda topganligi uchun “Buxoro Shashmaqomi”, deb yuritiladi. U kasbiy-ustozona musiqa namunasi bo‘lib, yirik hajmga ega, murakkab tuzilishli, umumiy soni  250 dan ziyod ashula, cholg‘u asarlarni  o‘z ichiga ...
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