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Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.
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- PLoS ONE, 2023, v. 18, n. 8, p. 1, doi. 10.1371/journal.pone.0288336
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- Article
VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage.
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- Genes, 2021, v. 12, n. 12, p. 1979, doi. 10.3390/genes12121979
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- Article
Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4700, doi. 10.3390/ijms22094700
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- Article
Immunosuppressive therapy in childhood‐onset arrhythmogenic inflammatory cardiomyopathy.
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- Pacing & Clinical Electrophysiology, 2021, v. 44, n. 3, p. 552, doi. 10.1111/pace.14153
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- Article
Novel SCN5A p.V1429M Variant Segregation in a Family with Brugada Syndrome.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 16, p. 5902, doi. 10.3390/ijms21165902
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- Article
Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 11, doi. 10.1002/jmd2.12094
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- Article
Upregulation of Peroxiredoxin 3 Protects Afg3l2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions.
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- Oxidative Medicine & Cellular Longevity, 2019, p. 1, doi. 10.1155/2019/4721950
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- Article
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).
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- Cerebellum, 2019, v. 18, n. 5, p. 972, doi. 10.1007/s12311-019-01069-7
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- Article
Differential effect of FHM2 mutation on synaptic plasticity in distinct hippocampal regions.
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- 2019
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- journal article
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.
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- 2019
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- Publication type:
- journal article
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.682
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- Article
Cutting a Long Intron Short: Recursive Splicing and Its Implications.
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- Frontiers in Physiology, 2016, v. 7, p. 1, doi. 10.3389/fphys.2016.00598
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- Article
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
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- Human Genetics, 2016, v. 135, n. 10, p. 1117, doi. 10.1007/s00439-016-1700-8
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- Article
Defective glutamate and K<sup>+</sup> clearance by cortical astrocytes in familial hemiplegic migraine type 2.
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- EMBO Molecular Medicine, 2016, v. 8, n. 8, p. 967, doi. 10.15252/emmm.201505944
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- Article
Purkinje neuron Ca<sup>2+</sup> influx reduction rescues ataxia in SCA28 model.
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- Journal of Clinical Investigation, 2015, v. 125, n. 1, p. 263, doi. 10.1172/JCI74770
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- Article
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model.
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- 2015
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- Publication type:
- journal article
Multi-electrode array study of neuronal cultures expressing nicotinic β2-V287L subunits, linked to autosomal dominant nocturnal frontal lobe epilepsy. An in vitro model of spontaneous epilepsy.
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- Frontiers in Neural Circuits, 2014, v. 8, p. 1, doi. 10.3389/fncir.2014.00087
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- Article
A novel truncated form of eNOS associates with altered vascular function.
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- Cardiovascular Research, 2014, v. 101, n. 3, p. 492, doi. 10.1093/cvr/cvt267
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- Publication type:
- Article
The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy.
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- 2014
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- journal article
The α<sub>2B</sub>-adrenergic receptor is mutant in cortical myoclonus and epilepsy.
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- Annals of Neurology, 2014, v. 75, n. 1, p. 77, doi. 10.1002/ana.24028
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- Article
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.
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- BMC Medical Genomics, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8794-6-22
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- Article
Importance of Different Types of Prior Knowledge in Selecting Genome-Wide Findings for Follow-Up.
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- Genetic Epidemiology, 2013, v. 37, n. 2, p. 205, doi. 10.1002/gepi.21705
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- Article
SNP Prioritization Using a Bayesian Probability of Association.
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- Genetic Epidemiology, 2013, v. 37, n. 2, p. 214, doi. 10.1002/gepi.21704
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- Article
Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation.
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- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3858, doi. 10.1093/hmg/dds214
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- Article
Increased Susceptibility to Cortical Spreading Depression in the Mouse Model of Familial Hemiplegic Migraine Type 2.
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- PLoS Genetics, 2011, v. 7, n. 6, p. 1, doi. 10.1371/journal.pgen.1002129
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- Article
ParkScreen: A Low-Cost Rapid Linkage Marker Panel for Parkinson’s Disease.
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- Journal of Molecular Neuroscience, 2009, v. 39, n. 1/2, p. 235, doi. 10.1007/s12031-009-9193-8
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- Article
Haploinsufficiency of AFG3L2, the Gene Responsible for Spinocerebellar Ataxia Type 28, Causes Mitochondria-Mediated Purkinje Cell Dark Degeneration.
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- Journal of Neuroscience, 2009, v. 29, n. 29, p. 9244, doi. 10.1523/JNEUROSCI.1532-09.2009
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- Article
Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration.
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- Human Molecular Genetics, 2009, v. 18, n. 11, p. 2001, doi. 10.1093/hmg/ddp124
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- Publication type:
- Article
Expression of mutant β2 nicotinic receptors during development is crucial for epileptogenesis.
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- Human Molecular Genetics, 2009, v. 18, n. 6, p. 1075, doi. 10.1093/hmg/ddp004
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- Article
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families.
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- Neurogenetics, 2008, v. 9, n. 2, p. 139, doi. 10.1007/s10048-008-0118-4
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- Article
The Mitochondrial Protease AFG3L2 Is Essential for Axonal Development.
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- Journal of Neuroscience, 2008, v. 28, n. 11, p. 2827, doi. 10.1523/JNEUROSCI.4677-07.2008
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- Article
Defective Intracellular Trafficking of Uromodulin Mutant Isoforms.
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- Traffic, 2006, v. 7, n. 11, p. 1567, doi. 10.1111/j.1600-0854.2006.00481.x
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- Article
Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate.
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- Movement Disorders, 2006, v. 21, n. 8, p. 1189, doi. 10.1002/mds.20922
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- Article
Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine.
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- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 555, doi. 10.1038/sj.ejhg.5201607
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- Article
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3477, doi. 10.1093/hmg/ddi377
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- Article
ATP1A2 mutations in 11 families with familial hemiplegic migraine.
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- Human Mutation, 2005, v. 26, n. 3, p. 281, doi. 10.1002/humu.9361
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- Article
AntiHunter 2.0: increased speed and sensitivity in searching BLAST output for EST antisense transcripts.
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- Nucleic Acids Research, 2005, v. 33, n. suppl 2, p. w665, doi. 10.1093/nar/gki448
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- Article
AntiHunter: searching BLAST output for EST antisense transcripts.
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- Bioinformatics, 2004, v. 20, n. 4, p. 583, doi. 10.1093/bioinformatics/btg460
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- Article
Original Letter A New Benign Adult Familial Myoclonic Epilepsy (BAFME) Pedigree Suggesting Linkage to Chromosome 2p11.1-q12.2.
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- Epilepsia (Series 4), 2004, v. 45, n. 2, p. 190, doi. 10.1111/j.0013-9580.2004.39903.x
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- Article
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3369, doi. 10.1093/hmg/ddg353
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- Article
Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.
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- Journal of Cell Biology, 2003, v. 163, n. 4, p. 777, doi. 10.1083/jcb.200304112
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- Article
Alternative splicing of NHE-1 mediates Na-Li countertransport and associates with activity rate.
- Published in:
- 2003
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- Publication type:
- journal article
Endothelial nitric oxide synthase polymorphisms are associated with type 2 diabetes and the insulin resistance syndrome.
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- 2003
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- Publication type:
- journal article
Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23.
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- Annals of Neurology, 2003, v. 53, n. 3, p. 376
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- Article
Haploinsufficiency of ATP1A2 encoding the Na[sup+]/K[sup+] pump α 2 subunit associated with familial hemiplegic migraine type 2.
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- Nature Genetics, 2003, v. 33, n. 2, p. 192, doi. 10.1038/ng1081
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- Article
Erratum: Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl co-transporter in Italian patients with Gitelman syndrome.
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- Human Mutation, 2002, v. 20, n. 4, p. 321, doi. 10.1002/humu.9064
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- Article
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3.
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- Journal of Neurology, 2002, v. 249, n. 10, p. 1413, doi. 10.1007/s00415-002-0856-4
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- Article
Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
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- Annals of Neurology, 2002, v. 52, n. 2, p. 211, doi. 10.1002/ana.10278
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- Publication type:
- Article
The functional properties of the human ether-à-go-go -like (HELK2) K<sup>+</sup> channel.
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- European Journal of Neuroscience, 2002, v. 16, n. 3, p. 415, doi. 10.1046/j.1460-9568.2002.02079.x
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- Publication type:
- Article
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.
- Published in:
- Human Mutation, 2002, v. 20, n. 1, p. 78, doi. 10.1002/humu.9045
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- Article