Published in Neurology on April 27, 2004
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. Ann Neurol (2009) 1.83
Molecular mechanisms of inherited demyelinating neuropathies. Glia (2008) 1.68
Role of phosphorylation on the structural dynamics and function of types III and IV intermediate filaments. Exp Cell Res (2007) 1.52
The cytoskeleton in neurodegenerative diseases. J Pathol (2004) 1.35
Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component. Hum Mol Genet (2009) 1.19
Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway. Hum Mol Genet (2009) 1.04
Axonal and periaxonal swelling precede peripheral neurodegeneration in KCC3 knockout mice. Neurobiol Dis (2007) 1.01
Toxic PR Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Target LC Domain Polymers. Cell (2016) 0.93
Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype. Hum Mol Genet (2014) 0.92
A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton. Dis Model Mech (2014) 0.88
New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. J Neurol Neurosurg Psychiatry (2007) 0.88
NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype. J Neurol (2015) 0.86
Charcot-Marie-Tooth disease and intracellular traffic. Prog Neurobiol (2012) 0.81
Charcot-marie-tooth disease: seventeen causative genes. J Clin Neurol (2006) 0.80
Optic nerve crush induces spatial and temporal gene expression patterns in retina and optic nerve of BALB/cJ mice. Mol Neurodegener (2014) 0.78
Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings. JAMA Neurol (2014) 0.77
Signaling mechanisms and disrupted cytoskeleton in the diphenyl ditelluride neurotoxicity. Oxid Med Cell Longev (2014) 0.77
Phosphatidylinositol phosphates directly bind to neurofilament light chain (NF-L) for the regulation of NF-L self assembly. Exp Mol Med (2011) 0.76
Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons. Neurology (2014) 0.76
Giant axon formation in mice lacking Kell, XK, or Kell and XK: animal models of McLeod neuroacanthocytosis syndrome. Am J Pathol (2014) 0.75
A Stochastic Multiscale Model That Explains the Segregation of Axonal Microtubules and Neurofilaments in Neurological Diseases. PLoS Comput Biol (2015) 0.75
Abnormal neurofilament inclusions and segregations in dorsal root ganglia of a Charcot-Marie-Tooth type 2E mouse model. PLoS One (2017) 0.75
Ig V gene mutation status and CD38 expression as novel prognostic indicators in chronic lymphocytic leukemia. Blood (1999) 11.57
Expression of a receptor for IgM by human T cells in vitro. Eur J Immunol (1975) 5.05
Subpopulations of human T cells identified by receptors for immunoglobulins and mitogen responsiveness. J Immunol (1976) 4.64
Chronic lymphocytic leukemia B cells express restricted sets of mutated and unmutated antigen receptors. J Clin Invest (1998) 3.96
Receptors for IgG molecules on human lymphocytes forming spontaneous rosettes with sheep red cells. Eur J Immunol (1975) 3.26
Heterogeneity of tonsillar subepithelial B lymphocytes, the splenic marginal zone equivalents. J Immunol (2000) 3.13
Paired helical filaments from Alzheimer disease patients contain cytoskeletal components. Proc Natl Acad Sci U S A (1985) 2.86
Critical illness myopathy and neuropathy. Lancet (1996) 2.71
Multiple sclerosis associated with duplicated CMT1A: a report of two cases. J Neurol Neurosurg Psychiatry (1997) 1.67
Apoptotic cells overexpress vinculin and induce vinculin-specific cytotoxic T-cell cross-priming. Nat Med (2001) 1.66
Accumulation of clonally related B lymphocytes in the cerebrospinal fluid of multiple sclerosis patients. J Immunol (2000) 1.64
Is in utero early-exposure to interferon beta a risk factor for pregnancy outcomes in multiple sclerosis? J Neurol (2008) 1.59
The role of muscle biopsy in investigating isolated muscle pain. Neurology (2007) 1.54
The demonstration of acid alpha-naphthyl acetate esterase activity in human lymphocytes: usefulness as a T-cell marker. Cell Immunol (1978) 1.52
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene. Neurol Sci (2006) 1.51
Somatosensory disinhibition in dystonia. Mov Disord (2001) 1.50
Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study. Neurol Sci (2006) 1.48
Guidelines for the therapeutic use of botulinum toxin in movement disorders. Italian Study Group for Movement Disorders, Italian Society of Neurology. Ital J Neurol Sci (1997) 1.46
Cyclosporin A in the treatment of juvenile chronic arthritis and childhood polymyositis-dermatomyositis. Results of a preliminary study. Clin Exp Rheumatol (1993) 1.43
Characterization of human T-cell subpopulations as defined by specific receptors for immunoglobulins. Contemp Top Immunobiol (1978) 1.42
miR-29b sensitizes multiple myeloma cells to bortezomib-induced apoptosis through the activation of a feedback loop with the transcription factor Sp1. Cell Death Dis (2012) 1.40
Ultrastructure and cytochemistry of human peripheral blood lymphocytes. Similarities between the cells of the third population and TG lymphocytes. Eur J Immunol (1980) 1.38
Receptors for IgM on certain human B lymphocytes. J Immunol (1977) 1.37
CD38 expression distinguishes two groups of B-cell chronic lymphocytic leukemias with different responses to anti-IgM antibodies and propensity to apoptosis. Blood (1996) 1.35
Inhibition of lymphocytic neuropathy target esterase predicts the development of organophosphate-induced delayed polyneuropathy. Arch Toxicol (1986) 1.34
Human T cell receptor for IgM: specificity for the pentameric Fc fragment. Eur J Immunol (1976) 1.30
Human lymphocytes bearing "Ia-like" antigens; absence in patients with infantile agammaglobulinemia. J Immunol (1977) 1.26
In vitro selective expansion of allergen specific T cells from atopic patients. Clin Exp Immunol (1983) 1.21
Somatic diversification and selection of immunoglobulin heavy and light chain variable region genes in IgG+ CD5+ chronic lymphocytic leukemia B cells. J Exp Med (1995) 1.17
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. Neurology (2007) 1.16
Stiff-man syndrome associated with nocturnal myoclonus and epilepsy. J Neurol Neurosurg Psychiatry (1978) 1.16
Neuroaxonal dystrophy with dystonia and pallidal involvement. Neuropediatrics (1999) 1.16
Large granular lymphocytes in human peripheral blood: ultrastructural and cytochemical characterization of the granules. Blood (1982) 1.16
Apoptosis or plasma cell differentiation of CD38-positive B-chronic lymphocytic leukemia cells induced by cross-linking of surface IgM or IgD. Blood (2000) 1.16
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. Neurology (2006) 1.15
Hereditary neuropathy with liability to pressure palsies: electrophysiological and genetic study of a family with carpal tunnel syndrome as only clinical manifestation. Neurol Sci (2003) 1.13
Eclamptic encephalopathy: imaging and pathogenetic considerations. Acta Neurol Scand (1997) 1.11
Effects in live cells of a c-myc anti-gene PNA linked to a nuclear localization signal. Nat Biotechnol (2000) 1.10
Comparison of various tests for Fc receptors on different human lymphocyte sub populations. Clin Exp Immunol (1979) 1.10
Activation of NF-kappaB and c-jun transcription factors in multiple sclerosis lesions. Implications for oligodendrocyte pathology. Am J Pathol (1999) 1.10
pH-dependent prion protein conformation in classical Creutzfeldt-Jakob disease. J Biol Chem (2001) 1.10
Locked-in syndrome in multiple sclerosis with sparing of the ventral portion of the pons. Ann Neurol (1982) 1.09
Possible risk factors for primary adult onset dystonia: a case-control investigation by the Italian Movement Disorders Study Group. J Neurol Neurosurg Psychiatry (1998) 1.09
A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia. Neuromuscul Disord (2001) 1.09
Selective lysis of the autologous tumor by delta TCS1+ gamma/delta+ tumor-infiltrating lymphocytes from human lung carcinomas. Eur J Immunol (1990) 1.09
In vitro production of interleukin 1 by normal and malignant human B lymphocytes. J Immunol (1986) 1.08
Cortical projection to erector spinae muscles in man as assessed by focal transcranial magnetic stimulation. Electroencephalogr Clin Neurophysiol (1992) 1.07
Transcranial electric and magnetic stimulation of the leg area of the human motor cortex: single motor unit and surface EMG responses in the tibialis anterior muscle. Electroencephalogr Clin Neurophysiol (1993) 1.07
Delayed spongiform leukoencephalopathy after heroin abuse. Acta Neuropathol (1997) 1.07
Abnormal central integration of a dual somatosensory input in dystonia. Evidence for sensory overflow. Brain (2000) 1.06
Characterization of cells from invaded lymph nodes in patients with solid tumors. Lymphokine requirement for tumor-specific lymphoproliferative response. J Exp Med (1987) 1.05
A study of immunoglobulin classes present on the membrane and in the cytoplasm of human tonsil plasma cells. Eur J Immunol (1976) 1.04
Human T cell lines with antigen specificity and helper activity. Eur J Immunol (1982) 1.04
Fc-receptors for IgG and IgM immunoglobulins on human T lymphocytes: mode of re-expression after proteolysis or interaction with immune complexes. J Immunol (1978) 1.04
Four novel cases of periaxin-related neuropathy and review of the literature. Neurology (2010) 1.04
Human peripheral nerve macrophages in normal and pathological conditions. J Neurol Sci (1993) 1.02
Temporal discrimination of somesthetic stimuli is impaired in dystonic patients. Neuroreport (1999) 1.02
HIV-1 induces down-regulation of bcl-2 expression and death by apoptosis of EBV-immortalized B cells: a model for a persistent "self-limiting" HIV-1 infection. Virology (1994) 1.02
Immunoglobulin V region gene use and structure suggest antigen selection in AIDS-related primary effusion lymphomas. Leukemia (1999) 1.01
An in vitro model for Toxoplasma infection in man. Interaction between CD4+ monoclonal T cells and macrophages results in killing of trophozoites. J Immunol (1988) 1.01
Comparative study of membrane and intracytoplasmic immunoglobulin classes in human lymphoid cells. Ann N Y Acad Sci (1975) 1.01
Lymphocyte membrane receptors in human lymphoid leukemias. Eur J Immunol (1975) 1.00
Characterization of IgD. I. Isolation of two molecular forms from human serum. Scand J Immunol (1979) 1.00
The expression pattern of small nucleolar and small Cajal body-specific RNAs characterizes distinct molecular subtypes of multiple myeloma. Blood Cancer J (2012) 1.00
T-cell receptor V delta gene usage by tumour reactive gamma delta T lymphocytes infiltrating human lung cancer. Immunology (1994) 1.00
CD38 signaling by agonistic monoclonal antibody prevents apoptosis of human germinal center B cells. Eur J Immunol (1994) 0.99
Frequent mutation of the 5' noncoding region of the BCL-6 gene in acquired immunodeficiency syndrome-related non-Hodgkin's lymphomas. Blood (1997) 0.99
Transcranial magnetic stimulation selectively impairs interhemispheric transfer of visuo-motor information in humans. Exp Brain Res (1998) 0.99
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients. Hum Genet (1995) 0.99
Glial cell and macrophage reactions in rat spinal ganglion after peripheral nerve lesions: an immunocytochemical and morphometric study. Arch Ital Biol (2001) 0.99
Natural history of CMT1A including QoL: a 2-year prospective study. Neuromuscul Disord (2008) 0.99
Acute dystonic reaction to ecstasy. Mov Disord (1995) 0.99
Increased serum IgD concentrations in patients with Hodgkin's disease. Clin Exp Immunol (1977) 0.99
Large granular lymphocytes have a promoting activity on human peripheral blood erythroid burst-forming units. Blood (1985) 0.98
Hepatitis C virus infection of peripheral nerves in type II cryoglobulinaemia. Virchows Arch (1999) 0.97
Production of B cell growth factor by a Leu-7+, OKM1+ non-T cell with the features of large granular lymphocytes (LGL). J Immunol (1985) 0.97
Evidence for progenitors of chronic lymphocytic leukemia B cells that undergo intraclonal differentiation and diversification. Blood (1996) 0.97
Sensitivity study of CR39 track detector in an extended range Bonner sphere spectrometer. Radiat Prot Dosimetry (2007) 0.96
Presence of serum IgD and IgD-containing plasma cells in the mouse. Eur J Immunol (1979) 0.95
Autocrine nitric oxide modulates CD95-induced apoptosis in gammadelta T lymphocytes. J Biol Chem (1997) 0.95
Some saccadic eye movements can be delayed by transcranial magnetic stimulation of the cerebral cortex in man. Brain (1993) 0.95
Examples of in vivo isotype class switching in IgM+ chronic lymphocytic leukemia B cells. J Clin Invest (1996) 0.94
A potential role for antigen selection in the clonal evolution of Burkitt's lymphoma. J Immunol (1994) 0.94
Clinical features of Kleine-Levin syndrome with localized encephalitis. Neuropediatrics (1993) 0.94
Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian movement disorders study group. J Neurol Neurosurg Psychiatry (1999) 0.94
Expression of CD10 by human T cells that undergo apoptosis both in vitro and in vivo. Blood (1999) 0.94
Neuroma of the sural nerve as a complication of stripping of the small saphenous vein. Surg Neurol (1997) 0.93
Anatomical and clinical study of a case of subacute encephalomyelitis with hyperekplexia syndrome. Ital J Neurol Sci (1988) 0.93
An unusual case of meningeal gliomatosis. Acta Neuropathol Suppl (1981) 0.93
Mycobacterium tuberculosis exploits the CD95/CD95 ligand system of gammadelta T cells to cause apoptosis. Eur J Immunol (1998) 0.93
Toxic polyneuropathies in Italy due to leather cement poisoning in shoe industries. A light- and electron-microscopic study. J Neurol Sci (1977) 0.93