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Delving into the Complexity of Valproate-Induced Autism Spectrum Disorder: The Use of Zebrafish Models.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 16, p. 1349, doi. 10.3390/cells13161349
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- Publication type:
- Article
Editorial: Trends and perspectives for the use of crop wild relatives in crop breeding.
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- Frontiers in Plant Science, 2024, p. 1, doi. 10.3389/fpls.2024.1424160
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- Publication type:
- Article
Standards of Fluid Biomarker Collection and Pre-analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on Biomarkers.
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- Cerebellum, 2024, v. 23, n. 3, p. 881, doi. 10.1007/s12311-023-01561-1
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- Publication type:
- Article
FARS‐ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change.
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- Movement Disorders, 2024, v. 39, n. 6, p. 965, doi. 10.1002/mds.29788
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- Publication type:
- Article
OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.
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- Human Molecular Genetics, 2024, v. 33, n. 9, p. 768, doi. 10.1093/hmg/ddae008
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- Publication type:
- Article
How should the best human embryo in vitro be? Current and future challenges for embryo selection.
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- Minerva Obstetrics & Gynecology, 2024, v. 76, n. 2, p. 159, doi. 10.23736/S2724-606X.23.05296-X
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- Publication type:
- Article
Observational longitudinal study on Toxoplasma gondii infection in fattening beef cattle: serology and associated haematological findings.
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- Parasitology Research, 2024, v. 123, n. 3, p. 1, doi. 10.1007/s00436-024-08189-y
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- Publication type:
- Article
What plant breeding may (and may not) look like in 2050?
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- Plant Genome, 2024, v. 17, n. 1, p. 1, doi. 10.1002/tpg2.20368
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- Publication type:
- Article
Durum wheat heat tolerance loci defined via a north–south gradient.
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- Plant Genome, 2024, v. 17, n. 1, p. 1, doi. 10.1002/tpg2.20414
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- Publication type:
- Article
Resistance to osimertinib in advanced EGFR-mutated NSCLC: a prospective study of molecular genotyping on tissue and liquid biopsies.
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- British Journal of Cancer, 2024, v. 130, n. 1, p. 135, doi. 10.1038/s41416-023-02475-9
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- Publication type:
- Article
Genome-wide association study of common resistance to rust species in tetraploid wheat.
- Published in:
- Frontiers in Plant Science, 2024, p. 1, doi. 10.3389/fpls.2023.1290643
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- Publication type:
- Article
Genomic regions of durum wheat involved in water productivity.
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- Journal of Experimental Botany, 2024, v. 75, n. 1, p. 316, doi. 10.1093/jxb/erad357
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- Publication type:
- Article
Genomic regions involved in the control of 1,000-kernel weight in wild relative-derived populations of durum wheat.
- Published in:
- Frontiers in Plant Science, 2023, p. 01, doi. 10.3389/fpls.2023.1297131
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- Publication type:
- Article
Comparative analysis of Hmx expression and the distribution of neuronal somata in the trigeminal ganglion in lamprey and shark: insights into the homology of the trigeminal nerve branches and the evolutionary origin of the vertebrate jaw.
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- Zoological Letters, 2023, v. 9, n. 1, p. 1, doi. 10.1186/s40851-023-00222-9
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- Publication type:
- Article
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
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- Journal of Neurology, 2023, v. 270, n. 10, p. 5057, doi. 10.1007/s00415-023-11816-w
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- Publication type:
- Article
Nationwide survey on the management of pediatric pharyngitis in Italian emergency units.
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- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01514-8
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- Publication type:
- Article
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
- Published in:
- Annals of Neurology, 2023, v. 94, n. 3, p. 470, doi. 10.1002/ana.26712
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- Publication type:
- Article
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4‐Related Hereditary Spastic Paraplegia.
- Published in:
- Movement Disorders, 2023, v. 38, n. 9, p. 1742, doi. 10.1002/mds.29524
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- Publication type:
- Article
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients .
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- Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1220620
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- Publication type:
- Article
Introducing Water and Deep Eutectic Solvents in Organosodium Chemistry: Chemoselective Nucleophilic Functionalizations in Air.
- Published in:
- Angewandte Chemie, 2023, v. 135, n. 30, p. 1, doi. 10.1002/ange.202304720
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- Publication type:
- Article
Introducing Water and Deep Eutectic Solvents in Organosodium Chemistry: Chemoselective Nucleophilic Functionalizations in Air.
- Published in:
- Angewandte Chemie International Edition, 2023, v. 62, n. 30, p. 1, doi. 10.1002/anie.202304720
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- Publication type:
- Article
Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.
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- Neurogenetics, 2023, v. 24, n. 3, p. 147, doi. 10.1007/s10048-023-00717-9
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- Publication type:
- Article
WDR5 is required for DUX4 expression and its pathological effects in FSHD muscular dystrophy.
- Published in:
- Nucleic Acids Research, 2023, v. 51, n. 10, p. 5144, doi. 10.1093/nar/gkad230
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- Publication type:
- Article
A multiple super-enhancer region establishes inter-TAD interactions and controls Hoxa function in cranial neural crest.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38953-0
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- Publication type:
- Article
The Strange Case of the Multiple MRI Phenotypes of RFC1 Mutation.
- Published in:
- Cerebellum, 2023, v. 22, n. 3, p. 478, doi. 10.1007/s12311-022-01401-8
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- Publication type:
- Article
Correction to: The Strange Case of the Multiple MRI Phenotypes of RFC1 Mutation.
- Published in:
- 2023
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- Publication type:
- Correction Notice
New cellular imaging‐based method to distinguish the SPG4 subtype of hereditary spastic paraplegia.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 6, p. 1734, doi. 10.1111/ene.15756
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- Publication type:
- Article
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 6, p. 3266, doi. 10.1007/s00415-023-11673-7
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- Publication type:
- Article
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients.
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- Movement Disorders, 2023, v. 38, n. 6, p. 1109, doi. 10.1002/mds.29397
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- Publication type:
- Article
Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue.
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- 2023
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- Publication type:
- Editorial
Short-Term Effects of Human versus Bovine Sialylated Milk Oligosaccharide Microinjection on Zebrafish Larvae Survival, Locomotor Behavior and Gene Expression.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5456, doi. 10.3390/ijms24065456
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- Publication type:
- Article
Extrahepatic Distal Cholangiocarcinoma vs. Pancreatic Ductal Adenocarcinoma: Histology and Molecular Profiling for Differential Diagnosis and Treatment.
- Published in:
- Cancers, 2023, v. 15, n. 5, p. 1454, doi. 10.3390/cancers15051454
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- Publication type:
- Article
Converging Role for REEP1/SPG31 in Oxidative Stress.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3527, doi. 10.3390/ijms24043527
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- Publication type:
- Article
MeerKAT's view of double radio relic galaxy cluster Abell 3376.
- Published in:
- Publications of the Astronomical Society of Japan, 2023, v. 75, p. S97, doi. 10.1093/pasj/psac009
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- Publication type:
- Article
Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 2, p. 333, doi. 10.1093/hmg/ddac201
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- Publication type:
- Article
A Survey on the Perception of Knowledge on Voluntary Termination of Pregnancy and Conscientious Objection Among La Sapienza University of Rome Medical Students.
- Published in:
- Medicina nei Secoli: Arte e Scienza, 2023, v. 35, n. 1, p. 75, doi. 10.13133/2531-7288/2719
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- Publication type:
- Article
Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation.
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- Acta Myologica, 2022, v. 41, n. 4, p. 201, doi. 10.36185/2532-1900-085
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- Publication type:
- Article
Long term follow-up in two siblings with Sengers syndrome: Case report.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01370-y
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- Publication type:
- Article
Expanding phenotype of FAM111B‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2920, doi. 10.1002/ajmg.a.62906
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- Publication type:
- Article
Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 10, p. 5431, doi. 10.1007/s00415-022-11192-x
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- Publication type:
- Article
Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 9, p. 5501, doi. 10.1007/s10072-022-06145-1
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- Publication type:
- Article
Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 8, p. 1024, doi. 10.3390/biom12081024
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- Publication type:
- Article
A Haptic Nonverbal Cognitive Test for Children and Adolescents With Visual Impairment.
- Published in:
- Journal of Visual Impairment & Blindness, 2022, v. 116, n. 4, p. 485, doi. 10.1177/0145482X221117172
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- Publication type:
- Article
Correction: Marazziti et al. The Microbiota/Microbiome and the Gut–Brain Axis: How Much Do They Matter in Psychiatry? Life 2021, 11 , 760.
- Published in:
- 2022
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- Publication type:
- Correction Notice
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.
- Published in:
- 2022
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- Publication type:
- journal article
Editoriale.
- Published in:
- ANUAC, 2022, v. 11, n. 1, p. 3, doi. 10.7340/anuac2239-625X-5275
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- Publication type:
- Article
Cirese 101: Rileggere le Osservazioni sul folclore di Antonio Gramsci.
- Published in:
- ANUAC, 2022, v. 11, n. 1, p. 7, doi. 10.7340/anuac2239-625X-5282
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- Publication type:
- Article
AMC 100 + 1: Introduzione.
- Published in:
- ANUAC, 2022, v. 11, n. 1, p. 9, doi. 10.7340/anuac2239-625X-5276
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- Publication type:
- Article
Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 11, p. 1840, doi. 10.3390/cells11111840
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- Publication type:
- Article
Epigenetic and Transcriptional Regulation of Spontaneous and Sensory Activity Dependent Programs During Neuronal Circuit Development.
- Published in:
- Frontiers in Neural Circuits, 2022, v. 16, p. 1, doi. 10.3389/fncir.2022.911023
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- Publication type:
- Article