Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency

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Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/S0960-8966(01)00312-1
P8608Fatcat IDrelease_5hye6ox5cvduxabpfgiizyzojy
P698PubMed publication ID12062258

P50authorFrancesco MuntoniQ29645259
Mario SabatelliQ42854288
P2093author name stringTonali P
Mercuri E
Ricci E
Sewry C
Guzzetta F
Naom I
Deodato F
P2860cites workMutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophyQ24308817
Dystroglycan is a binding protein of laminin and merosin in peripheral nerveQ28238540
Structure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophyQ28296180
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophyQ33678375
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 mouseQ41456452
A mutation in the dystrophin gene selectively affecting dystrophin expression in the heartQ41968446
Addition of purified basal lamina molecules enables Schwann cell ensheathment of sympathetic neurites in cultureQ42490040
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 studyQ42529199
Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophyQ42686876
Studies on the control of myelinogenesis. II. Evidence for neuronal regulation of myelin productionQ45150459
Congenital muscular dystrophy with partial merosin deficiency and late onset epilepsyQ47730686
Laminin alpha2 chain-deficient congenital muscular dystrophy: variable epitope expression in severe and mild casesQ47801486
Clinical correlations in 16 patients with total or partial laminin alpha2 deficiency characterized using antibodies against 2 fragments of the proteinQ48280459
Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiencyQ48516610
Localization of laminin alpha 2 chain in normal human central nervous system: an immunofluorescence and ultrastructural studyQ48554926
Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalitiesQ48671038
Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chainQ48713560
Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistryQ48881167
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 neuropathyQ57588473
Congenital muscular dystrophy with merosin deficiency: MRI findings in five patientsQ63435556
Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalitiesQ63457024
Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophyQ70938451
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth diseaseQ71512914
Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletalQ71791406
Merosin promotes neurite growth and Schwann cell migration in vitro and nerve regeneration in vivo: evidence using an antibody to merosin, ARM-1Q72049372
A benign allelic form of laminin alpha 2 chain deficient muscular dystrophyQ73252994
An atypical case of partial merosin deficiency congenital muscular dystrophyQ73569111
Limitation of eye movement in merosin-deficient congenital muscular dystrophyQ77937776
P433issue4
P304page(s)392-398
P577publication date2002-05-01
P1433published inNeuromuscular DisordersQ1981326
P1476titleHypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency
P478volume12

Reverse relations

cites work (P2860)
Q34133690A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments
Q37327075Abnormal expression of myelination genes and alterations in white matter fractional anisotropy following prenatal viral influenza infection at E16 in mice
Q37772080Biological role of dystroglycan in Schwann cell function and its implications in peripheral nervous system diseases
Q98464776Brain Dysfunction in LAMA2-Related Congenital Muscular Dystrophy: Lessons From Human Case Reports and Mouse Models
Q43482728Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations
Q55472526Collagen VI in healthy and diseased nervous system.
Q94544460LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models
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Q33821677Laminin 211 inhibits protein kinase A in Schwann cells to modulate neuregulin 1 type III-driven myelination
Q40300149Laminin alpha1 chain improves laminin alpha2 chain deficient peripheral neuropathy
Q36164129Laminins and their receptors in Schwann cells and hereditary neuropathies
Q36961190Laminins in peripheral nerve development and muscular dystrophy
Q99240636Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis
Q52572278Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration.
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