Published in Brain on October 30, 2013
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EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain (2016) 0.80
Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family. Neurogenetics (2015) 0.77
Sil1, a nucleotide exchange factor for BiP, is not required for antibody assembly or secretion. Mol Biol Cell (2014) 0.77
SIL1-negative Marinesco-Sjögren syndrome: First report of two sibs from India. J Pediatr Neurosci (2015) 0.77
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. Am J Hum Genet (2017) 0.75
Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome. Behav Neurol (2015) 0.75
GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies. PLoS One (2017) 0.75
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. J Hum Genet (2017) 0.75
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. Am J Hum Genet (2017) 0.75
Sil1-Mutant Mice Elucidate Chaperone Function in Neurological Disorders. J Neuromuscul Dis (2016) 0.75
Vici syndrome: a review. Orphanet J Rare Dis (2016) 0.75
An unexpected role for the yeast nucleotide exchange factor Sil1 as a reductant acting on the molecular chaperone BiP. Elife (2017) 0.75
The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins. Cell Death Differ (2017) 0.75
Cysteines as Redox Molecular Switches and Targets of Disease. Front Mol Neurosci (2017) 0.75
In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome. Oncotarget (2017) 0.75
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Minimal changes of serum creatinine predict prognosis in patients after cardiothoracic surgery: a prospective cohort study. J Am Soc Nephrol (2004) 7.79
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet (2004) 7.45
Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med (2002) 6.94
SAPS 3--From evaluation of the patient to evaluation of the intensive care unit. Part 2: Development of a prognostic model for hospital mortality at ICU admission. Intensive Care Med (2005) 4.66
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
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Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature (2013) 4.03
PML in a patient treated with fumaric acid. N Engl J Med (2013) 3.87
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol (2004) 3.83
Genetic loci influencing kidney function and chronic kidney disease. Nat Genet (2010) 3.75
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet (2010) 3.64
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet (2002) 3.21
Acute kidney injury in critically ill patients classified by AKIN versus RIFLE using the SAPS 3 database. Intensive Care Med (2009) 3.20
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Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain (2007) 2.88
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MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain (2006) 2.77
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet (2008) 2.74
Mapping translocation breakpoints by next-generation sequencing. Genome Res (2008) 2.73
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet (2007) 2.59
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet (2005) 2.59
Patient self-reports of symptoms and clinician ratings as predictors of overall cancer survival. J Natl Cancer Inst (2011) 2.56
Neuronal loss and brain atrophy in mice lacking cathepsins B and L. Proc Natl Acad Sci U S A (2002) 2.54
Impact of minimal increases in serum creatinine on outcome in patients after cardiothoracic surgery: do we have to revise current definitions of acute renal failure? Crit Care Med (2008) 2.51
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet (2007) 2.48
Errors in administration of parenteral drugs in intensive care units: multinational prospective study. BMJ (2009) 2.46
Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia (2012) 2.45
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet (2005) 2.38
Gene expression profile of glioblastoma multiforme invasive phenotype points to new therapeutic targets. Neoplasia (2005) 2.37
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum Mol Genet (2005) 2.28
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet (2003) 2.27
Axonal prion protein is required for peripheral myelin maintenance. Nat Neurosci (2010) 2.25
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. Nat Genet (2008) 2.24
Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data. Lancet Neurol (2013) 2.24
Randomized study to evaluate the use of high-dose therapy as part of primary treatment for "aggressive" lymphoma. J Clin Oncol (2002) 2.23
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet (2009) 2.22
An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. Neuromuscul Disord (2007) 2.17
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet (2008) 2.16
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain (2011) 2.15
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet (2012) 2.12
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. J Allergy Clin Immunol (2009) 2.09
The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med (2011) 2.08
Blue cohosh and perinatal stroke. N Engl J Med (2004) 2.05
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet (2005) 2.04
Variability in outcome and resource use in intensive care units. Intensive Care Med (2007) 2.04
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat (2008) 2.03
Successful management of cataplexy with intravenous immunoglobulins at narcolepsy onset. Ann Neurol (2004) 2.03
Gene-expression profiling elucidates molecular signaling networks that can be therapeutically targeted in vestibular schwannoma. J Neurosurg (2014) 2.02
The motor neuron response to SMN1 deficiency in spinal muscular atrophy. Muscle Nerve (2014) 2.02
Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol (2007) 2.01
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol (2006) 1.98
Incidence and prognosis of dysnatremias present on ICU admission. Intensive Care Med (2009) 1.97
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet (2012) 1.93
The German hospital malnutrition study. Clin Nutr (2006) 1.93
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. Am J Med Genet A (2005) 1.91
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. Science (2013) 1.91
Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. Neuromuscul Disord (2002) 1.89
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy. Hum Mutat (2007) 1.89
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat (2009) 1.88
Epidemiology of mechanical ventilation: analysis of the SAPS 3 database. Intensive Care Med (2009) 1.88
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics (2005) 1.88
Effects of psycho-oncologic interventions on emotional distress and quality of life in adult patients with cancer: systematic review and meta-analysis. J Clin Oncol (2013) 1.87
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. Acta Neuropathol (2008) 1.83
Impact of body mass on incidence and prognosis of acute kidney injury requiring renal replacement therapy. Intensive Care Med (2010) 1.83
Unequivocal delineation of clinicogenetic subgroups and development of a new model for improved outcome prediction in neuroblastoma. J Clin Oncol (2005) 1.82
Genome-wide comparison of medieval and modern Mycobacterium leprae. Science (2013) 1.81
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. Arch Neurol (2003) 1.81
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet (2009) 1.81
Testing and estimation in flexible group sequential designs with adaptive treatment selection. Stat Med (2005) 1.80
Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet (2004) 1.78
Repairing injured peripheral nerves: Bridging the gap. Prog Neurobiol (2010) 1.77
IL-6 is required for glioma development in a mouse model. Oncogene (2004) 1.74
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain (2007) 1.73
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet (2003) 1.72
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J Am Soc Nephrol (2003) 1.70
Xenon reduces neurohistopathological damage and improves the early neurological deficit after cardiac arrest in pigs. Crit Care Med (2008) 1.70