865 results on '"Simonati, A"'
Search Results
352. TSEN54 mutation in a child with pontocerebellar hypoplasia type 1
353. Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene
354. EEG and Granular Osmiophilic Elements in Early-Onset Alzheimer’s Disease
355. GIANT AXONAL NEUROPATHIES OF TOXIC ORIGIN
356. Neuropatie immunitarie
357. La patologia delle neuropatie periferiche
358. Microgyria associated with Sturge-Weber angiomatosis
359. Neuropatie genetiche
360. Pontocerebellar hypoplasia
361. Clinical features of Kleine-Levin syndrome with localized encephalitis
362. Peripheral nerve allograft for nerve repair
363. Neuropathology of the Stiff-Man syndrome
364. Friedreich's ataxia: Oxidative stress and cytoskeletal abnormalities
365. Neuronal Ceroid Lipofuscinoses: Many Players, and More to Come
366. Variant Late Infantile Neuronal Ceroid Lipofuscinosis Because of CLN1 Mutations
367. Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis
368. Screening of ARHSP-TCC patients expands the spectrum ofSPG11mutations and includes a large scale gene deletion
369. Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations
370. An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss
371. Neurodegeneration associated with genetic defects in phospholipase A2
372. Sarcoidosis and inclusion body myositis
373. CONGENITAL HYPOMYELINATION NEUROPATHY WITH A NOVEL MUTATION OF PMP22
374. Joint Meeting XLIII Congress of the Italian Association of Neuropathology (AINP) XXXIII Congress of the Italian Association of Research on Brain Aging (AIRIC) Verona, Italy, September 30, 2007 October 3, 2007
375. Dementia, delusions and seizures: storage disease or genetic AD?
376. Neuropathology of mitochondrial diseases
377. Revelation of a Novel CLN5 Mutation in Early Juvenile Neuronal Ceroid Lipofuscinosis
378. The role of muscle biopsy in investigating isolated muscle pain
379. Erratum: Corrigendum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
380. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
381. A novel missense mutation in the L1CAM gene in a boy with L1 disease
382. Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis
383. Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean
384. Neuronal-Specific Roles of the Survival Motor Neuron Protein
385. SACS MUTATIONS IN AUTOSOMAL RECESSIVE SPASTIC ATAXIAS
386. LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS AND ITS VARIANTS
387. Protein glutathionylation in human central nervous system: Potential role in redox regulation of neuronal defense against free radicals
388. Cerebral cortex three-dimensional profiling in human fetuses by magnetic resonance imaging
389. Erratum: Corrigendum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
390. MELAS: clinical phenotype and morphological brain abnormalities
391. Dejerine-Sottas Neuropathy with Multiple Nerve Roots Enlargement and Hypomyelination Associated with a Missense Mutation of the Transmembrane Domain of MPZ/P0
392. Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease)
393. Etiology of hepatocellular carcinoma influences clinical and pathologic features but not patient survival
394. Reply
395. Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 50
396. Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases.
397. Changes in terminal sprout formation in rat sternocostalis muscle during chronic intoxication with 2,5 hexanedione.
398. Erratum: The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum
399. The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum
400. Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0
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