Published in J Struct Biol on June 29, 2011
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SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. Eur J Hum Genet (2011) 1.04
rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA. Proc Natl Acad Sci U S A (2011) 1.02
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Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3). J Biol Chem (2007) 0.95
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Extensive acute axonal damage in pediatric multiple sclerosis lesions. Ann Neurol (2015) 0.94
Suppression of nonsense mutations in Rett syndrome by aminoglycoside antibiotics. Pediatr Res (2009) 0.93
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Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. Hum Mutat (2006) 0.93
Aromatic amino acids at the surface of InlB are essential for host cell invasion by Listeria monocytogenes. Mol Microbiol (2003) 0.93
Peroxisomes are juxtaposed to strategic sites on mitochondria. Mol Biosyst (2014) 0.92
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. Am J Hum Genet (2012) 0.91
Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. J Biol Chem (2008) 0.90
Single-molecule photobleaching reveals increased MET receptor dimerization upon ligand binding in intact cells. BMC Biophys (2013) 0.90
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Disturbances of breathing in Rett syndrome: results from patients and animal models. Adv Exp Med Biol (2008) 0.90
Serial proton MR spectroscopy and diffusion tensor imaging in infantile Balo's concentric sclerosis. Neuroradiology (2008) 0.89
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes. Hum Mol Genet (2004) 0.88
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Crystal structure of Yersinia enterocolitica type III secretion chaperone SycT. Protein Sci (2005) 0.86
Ligand-mediated dimerization of the Met receptor tyrosine kinase by the bacterial invasion protein InlB. J Mol Biol (2009) 0.86
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Polymicrogyria in fetal alcohol syndrome. Birth Defects Res A Clin Mol Teratol (2010) 0.85
MicroRNA regulation in experimental autoimmune encephalomyelitis in mice and marmosets resembles regulation in human multiple sclerosis lesions. J Neuroimmunol (2012) 0.85
Crystal structure of the Yersinia enterocolitica type III secretion chaperone SycD in complex with a peptide of the minor translocator YopD. BMC Struct Biol (2012) 0.85
Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults. Brain Dev (2009) 0.84
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency. Eur J Hum Genet (2013) 0.83
Treatment of epilepsy in Rett syndrome. Eur J Paediatr Neurol (2006) 0.82
Fold and function of the InlB B-repeat. J Biol Chem (2011) 0.82
Paediatric multiple sclerosis: the experience of the German Centre for Multiple Sclerosis in Childhood and Adolescence. J Neurol (2008) 0.82
Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome. Am J Med Genet A (2004) 0.82
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation. J Neurol (2013) 0.81
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase. Hum Mutat (2012) 0.81
Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma. Am J Med Genet A (2010) 0.81
Identification of a new fatty acid synthesis-transport machinery at the peroxisomal membrane. J Biol Chem (2011) 0.81
Early reduction of total N-acetyl-aspartate-compounds in patients with classical vanishing white matter disease. A long-term follow-up MRS study. Pediatr Res (2008) 0.80
Pediatric onset multiple sclerosis: McDonald criteria 2010 and the contribution of spinal cord MRI. Mult Scler (2013) 0.80
Molecular diagnosis of Rett syndrome. J Child Neurol (2005) 0.80
Structure and activity of the only human RNase T2. Nucleic Acids Res (2012) 0.80
First PEX11β patient extends spectrum of peroxisomal biogenesis disorder phenotypes. J Med Genet (2012) 0.79
Microdeletions within the hydrophobic core region of cellular prion protein alter its topology and metabolism. Biochem Biophys Res Commun (2010) 0.79
Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? Hum Mutat (2003) 0.79
A decreasing rate of neural tube defects following the recommendations for periconceptional folic acid supplementation. Acta Paediatr (2005) 0.79
Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI. Neuroradiology (2006) 0.78
Response of the Sensory animal-like cryptochrome aCRY to blue and red light as revealed by infrared difference spectroscopy. Biochemistry (2014) 0.78
Tau, phospho-tau, and S-100B in the cerebrospinal fluid of children with multiple sclerosis. J Child Neurol (2005) 0.78
Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2. Am J Med Genet A (2005) 0.78
The peroxisomal membrane targeting elements of human peroxin 2 (PEX2). Eur J Cell Biol (2003) 0.78
Therapeutic apheresis in pediatric patients with acute CNS inflammatory demyelinating disease. Blood Purif (2013) 0.77
Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis. Hum Mol Genet (2013) 0.77
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe. Eur J Hum Genet (2008) 0.77
Assessment of myelination in hypomyelinating disorders by quantitative MRI. J Magn Reson Imaging (2012) 0.76
The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy. Hum Mutat (2006) 0.76
Immunoglobulin therapy in idiopathic hypothalamic dysfunction. Pediatr Neurol (2009) 0.76
Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis. Eur J Pediatr (2005) 0.76
Detection of tripeptidyl peptidase I activity in living cells by fluorogenic substrates. J Histochem Cytochem (2006) 0.75
Corrigendum: Wild-type microglia do not reverse pathology in mouse models of Rett syndrome. Nature (2015) 0.75
Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients. BMC Med Genet (2011) 0.75
Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders. JIMD Rep (2011) 0.75
A novel mutation of the arylsulfatase A gene in late-onset metachromatic leukodystrophy. J Clin Psychiatry (2009) 0.75
Frequent but nonspecific venous narrowing in paediatric multiple sclerosis. Mult Scler (2012) 0.75
Visually self-induced seizures sensitive to round objects. Epilepsia (2005) 0.75
Metabolic evaluation of infantile epilepsy: summary recommendations of the Amalfi Group. J Child Neurol (2002) 0.75
Perisylvian polymicrogyria in Landau-Kleffner syndrome. Neurology (2005) 0.75