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'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 213, doi. 10.3233/JND-230110
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- Publication type:
- Article
Continuitiy of care with ataluren in Duchenne Muscular Dystrophy patients with nonsense mutations after loss of ambulation. Personal experience.
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- Acta Myologica, 2023, v. 42, n. 4, p. 118, doi. 10.36185/2532-1900-396
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- Publication type:
- Article
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature.
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- Neurogenetics, 2024, v. 25, n. 3, p. 287, doi. 10.1007/s10048-024-00760-0
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- Publication type:
- Article
EEG Monitoring of the Epileptic Newborn.
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- Current Neurology & Neuroscience Reports, 2020, v. 20, n. 4, p. 1, doi. 10.1007/s11910-020-1027-7
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- Publication type:
- Article
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 2, p. 1248, doi. 10.3390/ijms25021248
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- Publication type:
- Article
Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3796, doi. 10.3390/ijms24043796
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- Publication type:
- Article
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 8, p. 4202, doi. 10.3390/ijms22084202
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- Article
Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 1, p. 63, doi. 10.1159/000530410
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- Publication type:
- Article
Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 493, doi. 10.1159/000530586
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- Publication type:
- Article
Pharmacological Treatment of Severe Breathing Abnormalities in a Case of HNRNPU Epileptic Encephalopathy.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 2, p. 101, doi. 10.1159/000512566
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- Publication type:
- Article
Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders.
- Published in:
- Genes, 2023, v. 14, n. 9, p. 1828, doi. 10.3390/genes14091828
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- Publication type:
- Article
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1157, doi. 10.3390/genes12081157
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- Publication type:
- Article
Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene.
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- Italian Journal of Pediatrics, 2017, v. 43, p. 1, doi. 10.1186/s13052-017-0414-4
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- Publication type:
- Article
Monitoring of newborns at high risk for brain injury.
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- Italian Journal of Pediatrics, 2016, v. 42, p. 1, doi. 10.1186/s13052-016-0261-8
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- Publication type:
- Article
Acute symptomatic seizures in newborns: a narrative review.
- Published in:
- Acta Epileptologica, 2024, v. 6, n. 1, p. 1, doi. 10.1186/s42494-024-00151-w
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- Publication type:
- Article
Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01840-8
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- Publication type:
- Article
Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus.
- Published in:
- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-00954-4
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- Publication type:
- Article
Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report.
- Published in:
- Italian Journal of Pediatrics, 2019, v. 45, n. 1, p. N.PAG, doi. 10.1186/s13052-019-0752-5
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- Publication type:
- Article
Symptomatic seizures in preterm newborns: a review on clinical features and prognosis.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 1, p. N.PAG, doi. 10.1186/s13052-018-0573-y
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- Publication type:
- Article
Long-term follow-up in spastic paraplegia due to SPG56/ CYP2U1: age-dependency rather than genetic variability?
- Published in:
- 2017
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- Publication type:
- Letter
Ocular flutter, generalized myoclonus, and ataxia associated with anti-GM1, GD1a, and GD1b antibodies in a 6-year-old child.
- Published in:
- 2018
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- Publication type:
- case study
Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy.
- Published in:
- 2021
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- Publication type:
- Letter
Tolosa-Hunt syndrome and recurrent painful ophthalmoplegic neuropathy, case reports: what to do and when?
- Published in:
- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01541-5
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- Publication type:
- Article
A Novel Family with Demyelinating Charcot–Marie–Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature.
- Published in:
- Children, 2023, v. 10, n. 5, p. 901, doi. 10.3390/children10050901
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- Publication type:
- Article
Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1207176
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- Publication type:
- Article
Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study.
- Published in:
- 2020
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- Publication type:
- journal article
The independent role of neonatal seizures in epilepsy and other long-term neurological outcomes.
- Published in:
- 2019
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- Publication type:
- journal article
Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 4, p. 292, doi. 10.1111/j.1469-8749.2011.04179.x
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- Publication type:
- Article
Educational needs and career development of young epileptologists in Italy.
- Published in:
- Epilepsia Open, 2024, v. 9, n. 2, p. 613, doi. 10.1002/epi4.12888
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- Publication type:
- Article
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus.
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- Behavioural Neurology, 2024, v. 2024, p. 1, doi. 10.1155/2024/1023861
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- Publication type:
- Article
Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review.
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- 2022
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- Publication type:
- Case Study
Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3118, doi. 10.1002/ajmg.a.62902
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- Publication type:
- Article
Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2675, doi. 10.1002/ajmg.a.61803
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- Publication type:
- Article
IRF2BPL gene variants: One new case.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 255, doi. 10.1002/ajmg.a.61401
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- Publication type:
- Article
'Minimal' holoprosencephaly in a 14q deletion syndrome patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3216, doi. 10.1002/ajmg.a.38378
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- Publication type:
- Article
A highly unusual case of osmotic demyelination syndrome and extrapontine myelinolysis in a 3-month-old infant with Bartter syndrome.
- Published in:
- Journal of International Medical Research, 2020, v. 48, n. 10, p. 1, doi. 10.1177/0300060520966494
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- Publication type:
- Article
Infantile-Onset Charcot–Marie–Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a De novo MORC2 Gene Variant: A Case Report and Brief Review of the Literature.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.718808
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- Publication type:
- Article
Symptomatic Neonatal Seizures Followed by Febrile Status Epilepticus: The two-Hit Hypothesis for the Subsequent Development of Epilepsy.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 5, p. 615, doi. 10.1177/0883073814533004
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- Publication type:
- Article