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CARNITINE, CARNITINE ACYLTRANSFERASES, AND RAT BRAIN FUNCTIONBRESOLIN N; FREDDO L; VERGANI L et al.1982; EXPERIMENTAL NEUROLOGY; ISSN 0014-4886; USA; DA. 1982; VOL. 78; NO 2; PP. 285-292; BIBL. 15 REF.Article

Multiple neutral maltase activities in normal and acid maltase-deficient human muscleSHANSKE, S; BRESOLIN, N; DIMAURO, S et al.Experimental neurology (Print). 1984, Vol 84, Num 3, pp 565-578, issn 0014-4886Article

CARNITINE PALMITYL TRANSFERASE DEFICIENCY: CLINICAL VARIABILITY, CARRIER DETECTION, AND AUTOSOMAL-RECESSIVE INHERITANCEANGELINI C; FREDDO L; BATTISTELLA P et al.1981; NEUROLOGY; ISSN 0028-3878; USA; DA. 1981; VOL. 31; NO 7; PP. 883-886; BIBL. 13 REF.Article

MULTISYSTEM TRIGLYCERIDE STORAGE DISORDER WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATIONANGELINI C; PHILIPPART M; BORRONE C et al.1980; ANN. NEUROL.; USA; DA. 1980; VOL. 7; NO 1; PP. 5-10; BIBL. 19 REF.Article

Neurological features of Fabry disease: clinical, pathophysiological aspects and therapyBERSANO, A; LANFRANCONI, S; VALCARENGHI, C et al.Acta neurologica scandinavica. 2012, Vol 126, Num 2, pp 77-97, issn 0001-6314, 21 p.Article

New molecular findings in congenital myopathies due to selenoprotein N gene mutationsCAGLIANI, R; FRUGUGLIETTI, M. E; PICHIECCHIO, A et al.Journal of the neurological sciences. 2011, Vol 300, Num 1-2, pp 107-113, issn 0022-510X, 7 p.Article

Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation. Authors' replyTONELLI, A; LANFRANCONI, S; BERSANO, A et al.Clinical genetics. 2009, Vol 75, Num 5, pp 494-497, issn 0009-9163, 4 p.Article

Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansionLUCCHIARI, S; PAGLIARANI, S; MEOLA, G et al.Journal of the neurological sciences. 2008, Vol 275, Num 1-2, pp 159-163, issn 0022-510X, 5 p.Article

Coexistence of CMT-2D and distal SMA-V phenotypes in an italian family with a GARS gene mutationDEL BO, R; LOCATELLI, F; COMI, G. P et al.Neurology. 2006, Vol 66, Num 5, pp 752-754, issn 0028-3878, 3 p.Article

A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardationBORGATTI, R; ZUCCA, C; TAGLIALATELA, M et al.Neurology. 2004, Vol 63, Num 1, pp 57-65, issn 0028-3878, 9 p.Article

Remarkable infidelity of polymerase γA associated with mutations in POLG1 exonuclease domainDEL BO, R; BORDONI, A; SCIACCO, M et al.Neurology. 2003, Vol 61, Num 7, pp 903-908, issn 0028-3878, 6 p.Article

Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron diseaseCOMI, G. P; BORDONI, A; MOGGIO, M et al.Annals of neurology. 1998, Vol 43, Num 1, pp 110-116, issn 0364-5134Article

Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndromePAPADIMITRIOU, A; COMI, G. P; SALANI, S et al.Neurology. 1998, Vol 51, Num 4, pp 1086-1092, issn 0028-3878Article

Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and CTOSCANO, A; FAZIO, M. C; MAGAUDDA, A et al.Journal of neurology. 1995, Vol 242, Num 4, pp 203-209, issn 0340-5354Conference Paper

Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiencyBRESOLIN, N; COMI, G. P; SCARLATO, G et al.Journal of neurology. 1993, Vol 240, Num 5, pp 272-277, issn 0340-5354Article

Muscle biopsy in Alzheimer's disease : morphological and biochemical findingsMARIANI, C; BRESOLIN, N; FARINA, E et al.Clinical neuropathology. 1991, Vol 10, Num 4, pp 171-176, issn 0722-5091Article

Nucleus-driven multiple large-scale deletions of the human mitochondrial genome : a new autosomal dominant diseaseZEVIANI, M; BRESOLIN, N; GELLERA, C et al.American journal of human genetics. 1990, Vol 47, Num 6, pp 904-914, issn 0002-9297Article

Carnitine and acyltransferase in experimental neurogenic atrophies: changes with treatmentBRESOLIN, N; FREDDO, L; TEGAZZIN, V et al.Journal of neurology. 1985, Vol 231, Num 4, pp 170-175, issn 0340-5354Article

AN EXPERIMENTAL MODEL OF MYASTHENIA MYOPATHYTEGAZZINI V; FACCO E; CALDESI VALERI V et al.1979; AGRESSOLOGIE; FRA; DA. 1979; VOL. 20; NO 5; PP. 293-299; ABS. FRE; BIBL. 15 REF.Article

Effects of gender and posture on thoraco-abdominal kinematics during quiet breathing in healthy adultsROMEI, M; LOMAURO, A; D'ANGELO, M. G et al.Respiratory physiology & neurobiology. 2010, Vol 172, Num 3, pp 184-191, issn 1569-9048, 8 p.Article

Long-term balancing selection maintains trans-specific polymorphisms in the human TRIMS geneCAGLIANI, R; FUMAGALLI, M; BIASIN, M et al.Human genetics. 2010, Vol 128, Num 6, pp 577-588, issn 0340-6717, 12 p.Article

Evaluation of narrative abilities in patients suffering from Duchenne Muscular DystrophyMARINI, A; LORUSSO, M. L; D'ANGELO, M. G et al.Brain and language (Print). 2007, Vol 102, Num 1, pp 1-12, issn 0093-934X, 12 p.Article

Fate of autologous dermal stem cells transplanted into the spinal cord after traumatic injury (TSCI)GORIO, A; TORRENTE, Y; MADASCHI, L et al.Neuroscience. 2004, Vol 125, Num 1, pp 179-189, issn 0306-4522, 11 p.Article

Clinical, morphological and immunological evaluation of six patients with dysferlin deficiencyPRELLE, A; SCIACCO, M; CHIVERI, L et al.Acta neuropathologica. 2003, Vol 105, Num 6, pp 537-542, issn 0001-6322, 6 p.Article

Absence of brain Dp140 isoform and cognitive impairment in Becker muscular dystrophyBARDONI, A; SIRONI, M; FELISARI, G et al.Lancet (British edition). 1999, Vol 353, Num 9156, pp 897-898, issn 0140-6736Article

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