scholarly article | Q13442814 |
P356 | DOI | 10.1016/S0960-8966(01)00312-1 |
P8608 | Fatcat ID | release_5hye6ox5cvduxabpfgiizyzojy |
P698 | PubMed publication ID | 12062258 |
P50 | author | Francesco Muntoni | Q29645259 |
Mario Sabatelli | Q42854288 | ||
P2093 | author name string | Tonali P | |
Mercuri E | |||
Ricci E | |||
Sewry C | |||
Guzzetta F | |||
Naom I | |||
Deodato F | |||
P2860 | cites work | Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy | Q24308817 |
Dystroglycan is a binding protein of laminin and merosin in peripheral nerve | Q28238540 | ||
Structure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophy | Q28296180 | ||
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy | Q33678375 | ||
Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. | Q34145035 | ||
Differentiation of axon-related Schwann cells in vitro: II. Control of myelin formation by basal lamina. | Q41349971 | ||
Peripheral nerve involvement in merosin-deficient congenital muscular dystrophy and dy mouse | Q41456452 | ||
A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart | Q41968446 | ||
Addition of purified basal lamina molecules enables Schwann cell ensheathment of sympathetic neurites in culture | Q42490040 | ||
Characterization of dp6troglycan-laminin interaction in peripheral nerve. | Q42517423 | ||
Localization of the laminin alpha 2 chain in normal human skeletal muscle and peripheral nerve: an ultrastructural immunolabeling study | Q42529199 | ||
Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy | Q42686876 | ||
Studies on the control of myelinogenesis. II. Evidence for neuronal regulation of myelin production | Q45150459 | ||
Congenital muscular dystrophy with partial merosin deficiency and late onset epilepsy | Q47730686 | ||
Laminin alpha2 chain-deficient congenital muscular dystrophy: variable epitope expression in severe and mild cases | Q47801486 | ||
Clinical correlations in 16 patients with total or partial laminin alpha2 deficiency characterized using antibodies against 2 fragments of the protein | Q48280459 | ||
Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency | Q48516610 | ||
Localization of laminin alpha 2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study | Q48554926 | ||
Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities | Q48671038 | ||
Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain | Q48713560 | ||
Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry | Q48881167 | ||
Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family. | Q48984999 | ||
Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status. | Q51980447 | ||
Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy. | Q52172214 | ||
Autosomal recessive hypermyelinating neuropathy | Q57588473 | ||
Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients | Q63435556 | ||
Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities | Q63457024 | ||
Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy | Q70938451 | ||
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease | Q71512914 | ||
Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal | Q71791406 | ||
Merosin promotes neurite growth and Schwann cell migration in vitro and nerve regeneration in vivo: evidence using an antibody to merosin, ARM-1 | Q72049372 | ||
A benign allelic form of laminin alpha 2 chain deficient muscular dystrophy | Q73252994 | ||
An atypical case of partial merosin deficiency congenital muscular dystrophy | Q73569111 | ||
Limitation of eye movement in merosin-deficient congenital muscular dystrophy | Q77937776 | ||
P433 | issue | 4 | |
P304 | page(s) | 392-398 | |
P577 | publication date | 2002-05-01 | |
P1433 | published in | Neuromuscular Disorders | Q1981326 |
P1476 | title | Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency | |
P478 | volume | 12 |
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Q37772080 | Biological role of dystroglycan in Schwann cell function and its implications in peripheral nervous system diseases |
Q98464776 | Brain Dysfunction in LAMA2-Related Congenital Muscular Dystrophy: Lessons From Human Case Reports and Mouse Models |
Q43482728 | Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations |
Q55472526 | Collagen VI in healthy and diseased nervous system. |
Q94544460 | LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models |
Q90584743 | LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes |
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Q40300149 | Laminin alpha1 chain improves laminin alpha2 chain deficient peripheral neuropathy |
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Q99240636 | Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis |
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