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A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1

Neurology, 2000-11, Vol.55 (10), p.1467-1471

2000

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Relaparoscopic approach for recurrence after laparoscopic incisional hernia repair - a video vignette

Colorectal disease, 2016-09, Vol.18 (9), p.919-920

2016

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Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

American journal of human genetics, 2006-08, Vol.79 (2), p.342-350

2006

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Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome

American journal of human genetics, 1996-11, Vol.59 (5), p.1019-1026

1996

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Clinical pharmacology of chronic oral etoposide in patients with small cell and non-small cell lung cancer

Clinical cancer research, 1995-12, Vol.1 (12), p.1517-1524

1995

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Autosomal dominant hereditary spastic paraplegia: report of a large Italian family with R581X spastin mutation

Neurological sciences, 2007-08, Vol.28 (4), p.171-174

2007

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The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

Nature genetics, 2000-11, Vol.26 (3), p.275-276

2000

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Molecular Cloning, Expression Pattern, and Chromosomal Localization of the Human Na–Cl Thiazide-Sensitive Cotransporter (SLC12A3)

Genomics (San Diego, Calif.), 1996-08, Vol.35 (3), p.486-493

1996

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Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry

Journal of allergy and clinical immunology, 2016-01, Vol.137 (1), p.188-196.e4

2016

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Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

Cell, 1998-06, Vol.93 (6), p.973-983

1998

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Clinical and pharmacokinetic study of oral NK611, a new podophyllotoxin derivative

Cancer chemotherapy and pharmacology, 1996, Vol.38 (6), p.541-547

1996

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Phase I clinical and pharmacokinetic study of oral etoposide phosphate

Journal of clinical oncology, 1995-01, Vol.13 (1), p.200-209

1995

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Integrated imaging of systemic Langerhans cell histiocytosis in an infant

Radiology case reports, 2022-08, Vol.17 (8), p.2747-2753

2022

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Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23

Annals of neurology, 2003-03, Vol.53 (3), p.376-381

2003

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Autosomal recessive Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2

Annals of neurology, 1999-03, Vol.45 (3), p.344-352

1999

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A recessive variant of the Romano-Ward long-QT syndrome?

Circulation (New York, N.Y.), 1998-06, Vol.97 (24), p.2420-2425

1998

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Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12

Journal of nephrology, 2001-09, Vol.14 (5), p.392-396

2001

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Identification of a New Locus for Medullary Cystic Disease, on Chromosome 16p12

American journal of human genetics, 1999-06, Vol.64 (6), p.1655-1660

1999

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A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3

American journal of human genetics, 1998-07, Vol.63 (1), p.135-139

1998

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The functional properties of the human ether-à-go-go-like (HELK2) K+ channel

The European journal of neuroscience, 2002-08, Vol.16 (3), p.415-428

2002

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No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures

Neuroscience letters, 2005-11, Vol.388 (2), p.71-74

2005

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Antibacterial activity of extracts of Acacia aroma against methicillin-resistant and methicillin-sensitive Staphylococcus

Brazilian journal of microbiology, 2010-07, Vol.41 (3), p.581-587

2010

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Haploinsufficiency of ATP1A2 encoding the Na super(+)/K super(+) pump alpha 2 subunit associated with familial hemiplegic migraine type 2

Nature genetics, 2003-02, Vol.33 (2), p.192-196

2003

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Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity

European journal of human genetics : EJHG, 1999-10, Vol.7 (7), p.828-832

1999

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Relaparoscopic approach for recurrence after laparoscopic incisional hernia repair - a video vignette

Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland, 2016, Vol.18 (9), p.919-920

2016

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A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1

Relaparoscopic approach for recurrence after laparoscopic incisional hernia repair - a video vignette

Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome

Clinical pharmacology of chronic oral etoposide in patients with small cell and non-small cell lung cancer

Autosomal dominant hereditary spastic paraplegia: report of a large Italian family with R581X spastin mutation

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

Molecular Cloning, Expression Pattern, and Chromosomal Localization of the Human Na–Cl Thiazide-Sensitive Cotransporter (SLC12A3)

Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry

Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

Clinical and pharmacokinetic study of oral NK611, a new podophyllotoxin derivative

Phase I clinical and pharmacokinetic study of oral etoposide phosphate

Integrated imaging of systemic Langerhans cell histiocytosis in an infant

Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23

Autosomal recessive Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2

A recessive variant of the Romano-Ward long-QT syndrome?

Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12

Identification of a New Locus for Medullary Cystic Disease, on Chromosome 16p12

A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3

The functional properties of the human ether-à-go-go-like (HELK2) K+ channel

No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures

Antibacterial activity of extracts of Acacia aroma against methicillin-resistant and methicillin-sensitive Staphylococcus

Haploinsufficiency of ATP1A2 encoding the Na super(+)/K super(+) pump alpha 2 subunit associated with familial hemiplegic migraine type 2

Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity

Relaparoscopic approach for recurrence after laparoscopic incisional hernia repair - a video vignette

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