Published in Hum Mutat on March 01, 2005
Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis. Mol Genet Metab (2008) 1.03
Sustained normalization of neurological disease after intracranial gene therapy in a feline model. Sci Transl Med (2014) 1.03
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. Mol Genet Metab (2014) 0.95
Galactosialidosis: review and analysis of CTSA gene mutations. Orphanet J Rare Dis (2013) 0.90
Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients. Am J Pathol (2005) 0.89
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? Orphanet J Rare Dis (2012) 0.84
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database. Hum Mutat (2014) 0.79
Screening and functional pathway analysis of genes associated with pediatric allergic asthma using a DNA microarray. Mol Med Rep (2015) 0.78
Neuraminidase-1: a novel therapeutic target in multistage tumorigenesis. Oncotarget (2016) 0.77
SR proteins and the nonsense-mediated decay mechanism are involved in human GLB1 gene alternative splicing. BMC Res Notes (2008) 0.77
Population analysis of the GLB1 gene in South Brazil. Genet Mol Biol (2011) 0.75
Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity. J Biomed Sci (2010) 0.75
A mitochondrial protein compendium elucidates complex I disease biology. Cell (2008) 13.51
Accurate, robust, and automated longitudinal and cross-sectional brain change analysis. Neuroimage (2002) 8.03
Senescence-associated beta-galactosidase is lysosomal beta-galactosidase. Aging Cell (2006) 3.24
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet (2006) 3.17
VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD. Autophagy (2010) 2.99
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain (2005) 2.44
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord (2010) 2.14
Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis (2011) 2.14
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet (2012) 2.12
Nutritional phases in Prader-Willi syndrome. Am J Med Genet A (2011) 2.08
Right-to-left shunt in CADASIL patients: prevalence and correlation with clinical and MRI findings. Stroke (2008) 2.07
Two cases of hemichorea-hemiballism with nonketotic hyperglycemia: a new point of view. Neurol Sci (2009) 2.00
Mutant valosin-containing protein causes a novel type of frontotemporal dementia. Ann Neurol (2005) 1.94
Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet (2007) 1.92
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88
Blood oxygenation level dependent contrast resting state networks are relevant to functional activity in the neocortical sensorimotor system. Exp Brain Res (2005) 1.84
Prefibrillar amyloid protein aggregates share common features of cytotoxicity. J Biol Chem (2004) 1.79
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet (2012) 1.71
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. J Clin Invest (2004) 1.71
Pathological consequences of VCP mutations on human striated muscle. Brain (2006) 1.68
GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis. Mol Cell (2009) 1.66
Effects of enzyme replacement therapy in Fabry disease--a comprehensive review of the medical literature. Genet Med (2010) 1.65
GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis. Mol Cell (2004) 1.64
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. J Inherit Metab Dis (2014) 1.62
Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor. EMBO J (2003) 1.60
Imaging brain damage in first-degree relatives of sporadic and familial multiple sclerosis. Ann Neurol (2006) 1.59
Voxel-wise assessment of progression of regional brain atrophy in relapsing-remitting multiple sclerosis. J Neurol Sci (2009) 1.59
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab (2013) 1.57
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am J Hum Genet (2012) 1.54
Short-term survival of hyperammonemic neonates treated with dialysis. Pediatr Nephrol (2014) 1.54
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis (2011) 1.54
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur J Hum Genet (2007) 1.52
Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem (2001) 1.52
Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant. Pediatr Nephrol (2010) 1.49
The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses. Cardiol Young (2009) 1.46
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Hum Mutat (2002) 1.45
Minocycline but not tigecycline is neuroprotective and reduces the neuroinflammatory response induced by the superimposition of sepsis upon traumatic brain injury. Crit Care Med (2014) 1.45
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. PLoS One (2007) 1.42
Coma and respiratory failure in a child with severe vitamin B(12) deficiency. Pediatr Crit Care Med (2005) 1.42
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A (2006) 1.38
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain (2002) 1.37
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Hum Mutat (2004) 1.36
The enigmatic role of tafazzin in cardiolipin metabolism. Biochim Biophys Acta (2009) 1.35
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy. PLoS One (2013) 1.34
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr (2003) 1.32
Videolaparoscopy as rescue therapy and placement of peritoneal dialysis catheters: a thirty-two case single centre experience. Nephrol Dial Transplant (2006) 1.29
Expression specificity of GFAP transgenes. Neurochem Res (2004) 1.29
Chorein detection for the diagnosis of chorea-acanthocytosis. Ann Neurol (2004) 1.28
Neuraminidase 1 is a negative regulator of lysosomal exocytosis. Dev Cell (2008) 1.24
Association of neocortical volume changes with cognitive deterioration in relapsing-remitting multiple sclerosis. Arch Neurol (2007) 1.22
Expanded newborn screening: outcome in screened and unscreened patients at age 6 years. Pediatrics (2009) 1.19
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet (2013) 1.18
New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry. Anal Chem (2009) 1.15
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. J Neurol (2012) 1.15
Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice. Hum Mol Genet (2002) 1.13
N-glycomic changes in serum proteins during human aging. Rejuvenation Res (2007) 1.13
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. Eur J Pediatr (2005) 1.13
The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS). Mol Genet Metab (2013) 1.12
Therapeutic goals in the treatment of Fabry disease. Genet Med (2010) 1.12
Are neuropsychological impairments in children with early-treated phenylketonuria (PKU) related to white matter abnormalities or elevated phenylalanine levels? Dev Neuropsychol (2007) 1.10
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. Am J Hum Genet (2013) 1.09
The neuron-astrocyte-microglia triad in normal brain ageing and in a model of neuroinflammation in the rat hippocampus. PLoS One (2012) 1.08
Cerebral hemorrhages in CADASIL: report of four cases and a brief review. J Neurol Sci (2013) 1.08
Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A (2012) 1.08
P-gp localization in mitochondria and its functional characterization in multiple drug-resistant cell lines. Exp Cell Res (2006) 1.08
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A (2007) 1.07
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. Hum Mutat (2011) 1.07
Diffuse axonal and tissue injury in patients with multiple sclerosis with low cerebral lesion load and no disability. Arch Neurol (2002) 1.07
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat (2009) 1.07
Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias. Brain (2011) 1.06
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation. Brain (2011) 1.05
Functional amelioration of murine galactosialidosis by genetically modified bone marrow hematopoietic progenitor cells. Blood (2002) 1.05
Improving the characterization of radiologically isolated syndrome suggestive of multiple sclerosis. PLoS One (2011) 1.05
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. Ann Neurol (2004) 1.05
Relaxin prevents cardiac fibroblast-myofibroblast transition via notch-1-mediated inhibition of TGF-β/Smad3 signaling. PLoS One (2013) 1.03
LPS-induced cytokine production in human dendritic cells is regulated by sialidase activity. J Leukoc Biol (2010) 1.03
Mucopolysaccharidosis VI: the Italian experience. Eur J Pediatr (2009) 1.03
Chemokine-induced recruitment of genetically modified bone marrow cells into the CNS of GM1-gangliosidosis mice corrects neuronal pathology. Blood (2005) 1.03
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy. J Inherit Metab Dis (2011) 1.03
Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Arch Neurol (2004) 1.03
Apoptosis in CADASIL: an in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients. J Cell Physiol (2009) 1.02
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. J Med Genet (2014) 1.01
Morphofunctional integration between skeletal myoblasts and adult cardiomyocytes in coculture is favored by direct cell-cell contacts and relaxin treatment. Am J Physiol Cell Physiol (2004) 1.00
Bone marrow mesenchymal stromal cells stimulate skeletal myoblast proliferation through the paracrine release of VEGF. PLoS One (2012) 1.00
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics (2006) 1.00
Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet A (2004) 1.00
The yeast prion Ure2p native-like assemblies are toxic to mammalian cells regardless of their aggregation state. J Biol Chem (2006) 1.00
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey. Genet Med (2010) 0.99
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. J Neurol (2009) 0.99
Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications. Ann Genet (2004) 0.99
Lysosomal multienzyme complex: pros and cons of working together. Cell Mol Life Sci (2013) 0.99
Water apparent diffusion coefficient and T2 changes in the acute stage of maple syrup urine disease: evidence of intramyelinic and vasogenic-interstitial edema. J Neuroimaging (2003) 0.98
Clinical presentation and outcome in a series of 88 patients with the cblC defect. J Inherit Metab Dis (2014) 0.98
Is gestation in Prader-Willi syndrome affected by the genetic subtype? J Assist Reprod Genet (2009) 0.98