Published in J Neurol on November 13, 2009
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Hum Mol Genet (2013) 1.01
Structural insight into M-band assembly and mechanics from the titin-obscurin-like-1 complex. Proc Natl Acad Sci U S A (2010) 0.95
Molecular basis of the head-to-tail assembly of giant muscle proteins obscurin-like 1 and titin. EMBO Rep (2010) 0.83
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Biophysical characterization of naturally occurring titin M10 mutations. Protein Sci (2015) 0.77
Titin and obscurin: giants holding hands and discovery of a new Ig domain subset. J Mol Biol (2014) 0.76
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A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. Eur J Hum Genet (2017) 0.75
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Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy. PLoS One (2014) 0.75
Neuromuscular disorders and 2010: recent advances. J Neurol (2010) 0.75
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy. Mol Neurobiol (2016) 0.75
The kinase domain of titin controls muscle gene expression and protein turnover. Science (2005) 3.68
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet (2002) 2.67
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C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol (2007) 1.47
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology (2001) 1.28
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). Neuromuscul Disord (2008) 1.21
Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. Arch Neurol (1993) 1.18
Muscular dystrophy with separate clinical phenotypes in a large family. Muscle Nerve (1991) 1.02
Tibial muscular dystrophy in a Belgian family. Ann Neurol (2003) 1.01
The first European family with tibial muscular dystrophy outside the Finnish population. Neurology (1998) 0.81
Accurate, robust, and automated longitudinal and cross-sectional brain change analysis. Neuroimage (2002) 8.03
Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol (2010) 4.03
The kinase domain of titin controls muscle gene expression and protein turnover. Science (2005) 3.68
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain (2006) 3.16
Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain (2012) 3.02
FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet (2008) 2.65
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Late onset spinal motor neuronopathy is caused by mutation in CHCHD10. Ann Neurol (2014) 2.53
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol (2010) 2.48
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet (2005) 2.23
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet (2002) 2.14
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol (2003) 2.12
Retracted VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. Cell (2009) 2.11
Revised nomenclature for the mammalian long-chain acyl-CoA synthetase gene family. J Lipid Res (2004) 2.08
Right-to-left shunt in CADASIL patients: prevalence and correlation with clinical and MRI findings. Stroke (2008) 2.07
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet (2005) 2.05
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) (2003) 2.05
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome. Am J Med Genet A (2014) 2.02
Two cases of hemichorea-hemiballism with nonketotic hyperglycemia: a new point of view. Neurol Sci (2009) 2.00
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. Brain (2012) 1.92
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med (2011) 1.87
Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies. J Cell Sci (2008) 1.84
Blood oxygenation level dependent contrast resting state networks are relevant to functional activity in the neocortical sensorimotor system. Exp Brain Res (2005) 1.84
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet (2012) 1.75
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet (2005) 1.72
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet (2012) 1.71
Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients. Am J Med Genet A (2010) 1.70
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication. Hum Mutat (2004) 1.68
Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration. Brain (2011) 1.66
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. J Inherit Metab Dis (2014) 1.62
Voxel-wise assessment of progression of regional brain atrophy in relapsing-remitting multiple sclerosis. J Neurol Sci (2009) 1.59
Imaging brain damage in first-degree relatives of sporadic and familial multiple sclerosis. Ann Neurol (2006) 1.59
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Am J Hum Genet (2003) 1.59
Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry (2013) 1.52
Deciphering the underlying genetic and epigenetic events leading to gastric carcinogenesis. J Cell Physiol (2007) 1.47
Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain (2007) 1.46
Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis--a collaborative study of the Italian Renal Immunopathology Group. Nephrol Dial Transplant (2004) 1.46
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. PLoS One (2007) 1.42
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain (2002) 1.37
Mutations in FN1 cause glomerulopathy with fibronectin deposits. Proc Natl Acad Sci U S A (2008) 1.37
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. Kidney Int (2002) 1.35
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int (2004) 1.35
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathol (2013) 1.34
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Hum Genet (2011) 1.33
Traumatic peripheral nerve injuries: epidemiological findings, neuropathic pain and quality of life in 158 patients. J Peripher Nerv Syst (2010) 1.32
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. Orphanet J Rare Dis (2011) 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
Chorein detection for the diagnosis of chorea-acanthocytosis. Ann Neurol (2004) 1.28
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nat Genet (2002) 1.23
Association of neocortical volume changes with cognitive deterioration in relapsing-remitting multiple sclerosis. Arch Neurol (2007) 1.22
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet (2013) 1.22
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). Neuromuscul Disord (2008) 1.21
Superselective ophthalmic artery infusion of melphalan for intraocular retinoblastoma: preliminary results from 140 treatments. Acta Ophthalmol (2012) 1.20
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. Nephrol Dial Transplant (2009) 1.20
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. Am J Med Genet A (2008) 1.18
Study of MECP2 gene in Rett syndrome variants and autistic girls. Am J Med Genet B Neuropsychiatr Genet (2003) 1.18
Advances in Alport syndrome diagnosis using next-generation sequencing. Eur J Hum Genet (2011) 1.17
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. Hum Genet (2001) 1.15
Haploinsuffciency for Znf9 in Znf9+/- mice is associated with multiorgan abnormalities resembling myotonic dystrophy. J Mol Biol (2007) 1.14
N-glycomic changes in serum proteins during human aging. Rejuvenation Res (2007) 1.13
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet (2011) 1.09
iPS cells to model CDKL5-related disorders. Eur J Hum Genet (2011) 1.08
MECP2 deletions and genotype-phenotype correlation in Rett syndrome. Am J Med Genet A (2007) 1.08
Cerebral hemorrhages in CADASIL: report of four cases and a brief review. J Neurol Sci (2013) 1.08
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation. Ann Neurol (2005) 1.08
Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy. J Child Neurol (2003) 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
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. Orphanet J Rare Dis (2014) 1.07
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann Neurol (2013) 1.07
Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias. Brain (2011) 1.06
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. Hum Mutat (2008) 1.06
Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia. Arthritis Rheum (2008) 1.06
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation. Brain (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