Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes.
暂无分享,去创建一个
Sanjib Sinha | Shobini L. Rao | P. Satishchandra | S. Sinha | P. Satishchandra | P. Bindu | N. Gayathri | S Rao | P. Bindu | Rakesh H Jadav | T C Yasha | H Aravinda | N Gayathri | P S Bindu | P Satishchandra | H. Aravinda | T. Yasha | R. Jadav | S. Rao
[1] B. Englund. Diagnostic Value of Electron Microscopy in a Case of Juvenile Neuronal Ceroid Lipofuscinosis , 2001, Ultrastructural pathology.
[2] H. Goebel,et al. The Neuronal Ceroid‐Lipofuscinoses. Recent Advances , 1998, Brain pathology.
[3] S. Shankar,et al. Neuronal ceroid lipofuscinosis: a clinicopathological study , 2004, Seizure.
[4] H. Goebel,et al. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses , 2005, Neurogenetics.
[5] Professor Dr. Jacob Valk,et al. Magnetic Resonance of Myelin, Myelination, and Myelin Disorders , 1989, Springer Berlin Heidelberg.
[6] R. Boustany. Neurology of the neuronal ceroid-lipofuscinoses: late infantile and juvenile types. , 1992, American journal of medical genetics.
[7] H. Huppertz,et al. Neuroradiological findings in classical late infantile neuronal ceroid-lipofuscinosis. , 1996, Pediatric neurology.
[8] Umbertina Conti Reed,et al. DIFICULDADES NO DIAGNÓSTICO CLÍNICO E ELETRENCEFALOGRÁFICO DE LIPOFUSCINOSE CERÓIDE NEURONAL , 2005 .
[9] K. Wisniewski,et al. Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses. , 2001, Advances in genetics.
[10] P. Satishchandra,et al. Magnetic Resonance Imaging in Neuronal Ceroid Lipofuscinosis and its Subtypes , 2012, The neuroradiology journal.
[11] R. Gardiner. Genetic analysis of Batten disease , 1993, Journal of Inherited Metabolic Disease.
[12] H. Goebel,et al. Chapter 79 – Lysosomal and Peroxisomal Disorders , 2005 .
[13] C. Tilikete,et al. Adult neuronal ceroid lipofuscinosis with palmitoyl‐protein thioesterase deficiency: First adult‐onset patients of a childhood disease , 2001, Annals of neurology.
[14] M. Haltia. The Neuronal Ceroid–Lipofuscinoses , 2003, Journal of neuropathology and experimental neurology.
[15] M. Gardiner,et al. Molecular Genetics of the Neuronal Ceroid Lipofuscinoses , 1999, Epilepsia.
[16] H. Goebel. Morphologic diagnosis in neuronal ceroid lipofuscinosis. , 1997, Neuropediatrics.
[17] M. Wilkinson. Ceroid lipofuscinosis, neuronal 3, Juvenile-Batten disease: case report and literature review. , 2001, Optometry.
[18] P. Satishchandra,et al. Progressive myoclonic epilepsy. , 2010, Neurology India.
[19] R. Boustany,et al. Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population , 2003, Journal of Neurology.
[20] T. Autti,et al. Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders. , 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[21] K. Wisniewski,et al. Neuronal ceroid lipofuscinoses: classification and diagnosis. , 2001, Advances in genetics.
[22] T. Autti,et al. Neuronal ceroid lipofuscinoses in childhood , 2000, Neurological Sciences.
[23] H. Goebel,et al. Current State of Clinical and Morphological Features in Human NCL , 2004, Brain pathology.
[24] K. Davis,et al. Wallerian degeneration: evaluation with MR imaging. , 1988, Radiology.
[25] S. Mole. The Genetic Spectrum of Human Neuronal Ceroid‐lipofuscinoses , 2004, Brain pathology.
[26] K. Wisniewski,et al. Neuronal ceroid lipofuscinoses: research update , 2000, Neurological Sciences.
[27] G. Pampiglione,et al. So-called neuronal ceroid lipofuscinosis , 1977, Journal of neurology, neurosurgery, and psychiatry.
[28] B. Kendall,et al. Disorders of lysosomes, peroxisomes, and mitochondria. , 1992, AJNR. American journal of neuroradiology.
[29] D. Birch. Retinal degeneration in retinitis pigmentosa and neuronal ceroid lipofuscinosis: An overview. , 1999, Molecular genetics and metabolism.
[30] Jean-Jacques Martin,et al. Diagnostic role of skin or conjunctival biopsies in neurological disorders An update , 1984, Journal of the Neurological Sciences.
[31] D. Pearce,et al. Analysis of NCL Proteins from an Evolutionary Standpoint , 2008, Current genomics.
[32] R. Biancheri,et al. Clinical and EEG findings in 18 cases of late infantile neuronal ceroid lipofuscinosis , 2001, Brain and Development.
[33] G. Meco,et al. A possible association between exposure to n-hexane and parkinsonism , 2000, Neurological Sciences.
[34] J. Tolmie,et al. Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits. , 1997, Neuropediatrics.
[35] S. Tobimatsu,et al. Pathogenesis of giant somatosensory evoked potentials in progressive myoclonic epilepsy. , 1985, Brain : a journal of neurology.
[36] L. Peltonen,et al. From genes to systems: new global strategies for the characterization of NCL biology. , 2006, Biochimica et biophysica acta.
[37] W. Brown,et al. Studies of atypical JNCL suggest overlapping with other NCL forms. , 1998, Pediatric neurology.
[38] R. L. Gama,et al. Lipofuscinose ceróide neuronal: achados clínicos e neurorradiológicos , 2007 .
[39] Y. Miyake,et al. Batten disease--deteriorating course of ocular findings. , 1992, Japanese journal of ophthalmology.
[40] A. Bol,et al. Neuronal ceroid-lipofuscinosis: preferential metabolic alterations in thalamus and posterior association cortex demonstrated by PET. , 1990, Journal of neurology, neurosurgery, and psychiatry.
[41] R. Weleber. The dystrophic retina in multisystem disorders: The electroretinogram in neuronal ceroid lipofuscinoses , 1998, Eye.
[42] L. Chimelli,et al. Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from southern Brazil. , 2000, Arquivos de neuro-psiquiatria.
[43] A. Häkkinen,et al. Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease. , 2004, Neuropediatrics.
[44] S. Shankar,et al. Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from South India , 2007, Journal of the Neurological Sciences.
[45] W. Brown,et al. Atypical late infantile and juvenile forms of neuronal ceroid lipofuscinosis and their diagnostic difficulties. , 1997, Folia neuropathologica.
[46] I. Saatci,et al. Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies. , 2004, The Turkish journal of pediatrics.
[47] David S. Martin,et al. Pediatric Neuroimaging. 2nd ed , 1995 .
[48] T. Autti,et al. MRI of neuronal ceroid lipofuscinosis , 1996, Neuroradiology.
[49] K. Sainio,et al. EEG and evoked potentials in infantile neuronal ceroid‐lipofuscinosis , 1997, Developmental medicine and child neurology.