M. De Fusco

发表

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.

A. Ballabio, R. Marconi, F. Cavalcanti, 1998, American journal of human genetics.

A TRAPPC6B splicing variant associates to restless legs syndrome.

L. Ferini-Strambi, V. Arnao, J. Winkelmann, 2016, Parkinsonism & related disorders.

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

A. Ballabio, R. Marconi, G. De Michele, 2003, Annals of neurology.

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

E. Wanke, O. Crociani, A. Becchetti, 2002, The European journal of neuroscience.

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

C. Cianchetti, P. Aridon, C. Di Resta, 2006, American journal of human genetics.

Increased Susceptibility to Cortical Spreading Depression in the Mouse Model of Familial Hemiplegic Migraine Type 2

T. Pizzorusso, G. Casari, M. de Fusco, 2011, PLoS genetics.

ATP1A2 mutations in 11 families with familial hemiplegic migraine

P. Aridon, G. Casari, M. de Fusco, 2005, Human mutation.

α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response

F. Pieruzzi, C. Lanzani, F. Scolari, 2022, Molecular genetics and metabolism reports.

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. Ballabio, P. Aridon, N. Nardocci, 1999, Annals of neurology.

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

A. Ballabio, A. Quattrone, A. Gambardella, 2000, Neurology.

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

A. Ballabio, G. Casari, N. Mastroianni, 1996, American Journal of Human Genetics.

Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3).

A. Ballabio, O. Zuffardi, G. Casari, 1996, Genomics.

A New Benign Adult Familial Myoclonic Epilepsy (BAFME) Pedigree Suggesting Linkage to Chromosome 2p11.1‐q12.2

P. Striano, R. Guerrini, M. Elia, 2004, Epilepsia.

Crystal structure of the TLDc domain of Skywalker/TBC1D24 from Drosophila melanogaster

P. Verstreken, P. Aridon, W. Versées, 2019 .

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

A. Ballabio, E. Wanke, A. Quattrone, 2000, Nature genetics.

Further evidence of genetic heterogeneity in familial essential tremor.

P. Aridon, P. Ragonese, G. Savettieri, 2008, Parkinsonism & related disorders.

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

S. Priori, L. Bianchi, P. Schwartz, 1998, Circulation.

Identification of a new locus for medullary cystic disease, on chromosome 16p12.

A. Ballabio, P. Aridon, F. Scolari, 1999, American journal of human genetics.

Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family.

A. Ballabio, M. Rafiq, P. Aridon, 2001, American journal of medical genetics.

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

F. Scolari, B. F. Viola, A. Amoroso, 2001, JN. Journal of Nephrology (Milano. 1992).

Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease

F. Scolari, C. Izzi, C. Schaeffer, 2023, Disease Models & Mechanisms.

TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.

P. Verstreken, P. Aridon, W. Versées, 2019, Brain : a journal of neurology.