Related references
Note: Only part of the references are listed.SPORADIC COL4A1 MUTATIONS WITH EXTENSIVE PRENATAL PORENCEPHALY RESEMBLING HYDRANENCEPHALY
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NEUROLOGY (2010)
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GENOME BIOLOGY (2010)
COL4A1 Mutation in Two Preterm Siblings with Antenatal Onset of Parenchymal Hemorrhage
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COL4A1 Mutation in Preterm Intraventricular Hemorrhage
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JOURNAL OF PEDIATRICS (2009)
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NEUROLOGY (2009)
ISL1 and BRN3B co-regulate the differentiation of murine retinal ganglion cells
Ling Pan et al.
DEVELOPMENT (2008)
Ethnically Diverse Causes of Walker-Warburg Syndrome (WWS): FCMD Mutations Are a More Common Cause of WWS Outside of the Middle East
M. Chiara Manzini et al.
HUMAN MUTATION (2008)
GPR56 regulates pial basement membrane integrity and cortical lamination
Shihong Li et al.
JOURNAL OF NEUROSCIENCE (2008)
Structural basis of sequence-specific collagen recognition by SPARC
Erhard Hohenester et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
Emmanuelle Plaisier et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
Ectopia of meningeal fibroblasts and reactive gliosis in the cerebral cortex of the mouse model of muscle-eye-brain disease
Yuan Yang et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2007)
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease
Ute Hehr et al.
NEUROGENETICS (2007)
Clinical and brain MRI follow-up study of a family with COL4A1 mutation
K. Vahedi et al.
NEUROLOGY (2007)
Molecular heterogeneity in fetal forms of type II lissencephaly
C. Bouchet et al.
HUMAN MUTATION (2007)
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke
Igor Sibon et al.
ANNALS OF NEUROLOGY (2007)
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage
Katayoun Vahedi et al.
STROKE (2007)
The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin α2-deficient congenital muscular dystrophy
Thomas E. Hall et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Distinct target-derived signals organize formation, maturation, and maintenance of motor nerve terminals
Michael A. Fox et al.
CELL (2007)
Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis
Douglas B. Gould et al.
HUMAN MOLECULAR GENETICS (2007)
Breaches of the pial basement membrane and disappearance of the glia limitans during development underlie the cortical lamination defect in the mouse model of muscle-eye-brain disease
Huaiyu Hu et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2007)
Congenital muscular dystrophies: New aspects of an expanding group of disorders
Matthew T. Lisi et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2007)
Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus:: An extension of the Col4α1 allelic series and the identification of the first two Col4a2 mutant Alleles
Jack Favor et al.
GENETICS (2007)
Reactive oxygen species deglycosilate glomerular α-dystroglycan
NPJ Vogtländer et al.
KIDNEY INTERNATIONAL (2006)
Role of COL4A1 in small-vessel disease and hemorrhagic stroke
DB Gould et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1
MS van der Knaap et al.
ANNALS OF NEUROLOGY (2006)
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly
G. Breedveld et al.
JOURNAL OF MEDICAL GENETICS (2006)
The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis
Motoi Kanagawa et al.
JOURNAL OF HUMAN GENETICS (2006)
The endoplasmic reticulum: Folding, calcium homeostasis, signaling, and redox control
Agnes Goerlach et al.
ANTIOXIDANTS & REDOX SIGNALING (2006)
POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome
J van Reeuwijk et al.
JOURNAL OF MEDICAL GENETICS (2005)
Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy
T Van Agtmael et al.
HUMAN MOLECULAR GENETICS (2005)
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly
DB Gould et al.
SCIENCE (2005)
Prediction of collagen stability from amino acid sequence
AV Persikov et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Congenital muscular dystrophy: molecular and cellular aspects
C Jimenez-Mallebrera et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2005)
Basement membrane-dependent survival of retinal ganglion cells
W Halfter et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
Degradation of misfolded proteins prevents ER-derived oxidative stress and cell death
CM Haynes et al.
MOLECULAR CELL (2004)
Hereditary porencephaly: clinical and MRI findings in two Dutch families
GMS Mancini et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2004)
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency
WA Irwin et al.
NATURE GENETICS (2003)
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan
C Longman et al.
HUMAN MOLECULAR GENETICS (2003)
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
D Beltran-Valero de Bernabé et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
DE Michele et al.
NATURE (2002)
Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy
SA Moore et al.
NATURE (2002)
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan
M Brockington et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
A Yoshida et al.
DEVELOPMENTAL CELL (2001)
β1-class integrins regulate the development of laminae and folia in the cerebral and cerebellar cortex
D Graus-Porta et al.
NEURON (2001)
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease
B Cormand et al.
NEUROLOGY (2001)