about
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population studyAuditory saccade impairment after central thalamus lesions.Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.Oral self-mutilation in a patient with rhombencephalosynapsys.Migraine with aura white matter lesions: preliminary data on clinical aspects.Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndromeThe clinical spectrum of late-onset Alexander disease: a systematic literature review.Magnetic resonance imaging in central nervous system vasculitis in a patient affected by crioglobulin-negative hepatitis C virus infection: A likely correlation.Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up.POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.Bilateral transfer phenomenon: A functional magnetic resonance imaging pilot study of healthy subjectsCongenital muscular dystrophies with cognitive impairment. A population study.Congenital adrenal hyperplasia and multiple sclerosis: is there an increased risk of multiple sclerosis in individuals with congenital adrenal hyperplasia?Benefit of doxycycline treatment on articular disability caused by dialysis related amyloidosis.Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient.Brain pseudoatrophy and mental regression on valproate and a mitochondrial DNA mutation.Cerebral visual impairment in periventricular leukomalacia.Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case.Brain white matter impairment in congenital adrenal hyperplasia.Cognitive visual dysfunctions in preterm children with periventricular leukomalacia.Cerebral cavernous angiomas: an atypical case in infancy.Subcortical dementia associated with striking enlargement of the Virchow-Robin spaces and transneural degeneration of the left mammillo-thalamic tract.Postinfectious inflammatory disorders: subgroups based on prospective follow-up.The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients.Parry-Romberg syndrome: conventional and advanced MRI follow-up in a boy.A high-urgency stroke code reduces in-hospital delays in acute ischemic stroke: a single-centre experience.Lafora disease: spectroscopy study correlated with neuropsychological findings.Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma.Late diagnosis in severe and mild intellectual disability in adulthood.Towards improved clinical characterization of Leber congenital amaurosis: neurological and systemic findings.Visual-perceptual impairment in children with periventricular leukomalacia.Migraine with aura and white matter lesions: an MRI study.Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).A short protocol for muscle MRI in children with muscular dystrophies.Expanding CEP290 mutational spectrum in ciliopathiesSpinal Cord Calcification in an Early-Onset Progressive LeukoencephalopathyThe Aicardi–Goutières syndrome. Molecular and clinical features of RNAse deficiency and microRNA overloadLong-term follow-up of an adolescent who had bilateral striatal necrosis secondary to Mycoplasma pneumoniae infectionAdult-onset Alexander diseaseRecovery of visual functions after early acquired occipital damage
P50
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P50
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hulumtuese
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հետազոտող
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Carla Uggetti
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Carla Uggetti
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Carla Uggetti
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Carla Uggetti
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Carla Uggetti
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Carla Uggetti
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Carla Uggetti
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Carla Uggetti
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Carla Uggetti
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Carla Uggetti
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Carla Uggetti
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Carla Uggetti
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Carla Uggetti
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Carla Uggetti
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Carla Uggetti
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P106
P1153
7003325687
P21
P31
P496
0000-0002-6717-1280