Found: 37
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Ocular flutter, generalized myoclonus, and ataxia associated with anti-GM1, GD1a, and GD1b antibodies in a 6-year-old child.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 6, p. 493, doi. 10.1159/000530586
- By:
- 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
- By:
- Publication type:
- Article
A Case of Infantile Neuroaxonal Dystrophy of Neonatal Onset.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 3, p. 368, doi. 10.1177/0883073814535493
- By:
- Publication type:
- Article
Epilepsy in ring 14 syndrome: A clinical and EEG study of 22 patients.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 12, p. 2204, doi. 10.1111/epi.12393
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- Publication type:
- Article
Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
- Published in:
- Cerebellum, 2021, v. 20, n. 4, p. 596, doi. 10.1007/s12311-021-01242-x
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- Publication type:
- Article
Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy.
- Published in:
- 2021
- By:
- Publication type:
- Letter
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
- By:
- 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.
- Published in:
- 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.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 255, doi. 10.1002/ajmg.a.61401
- By:
- 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
- By:
- 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
- By:
- 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
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
- By:
- 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
- By:
- Publication type:
- Article
'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
- By:
- 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
- By:
- 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
Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study.
- Published in:
- 2020
- By:
- Publication type:
- journal 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
- By:
- Publication type:
- Article
Long-term follow-up in spastic paraplegia due to SPG56/ CYP2U1: age-dependency rather than genetic variability?
- Published in:
- 2017
- By:
- Publication type:
- Letter
New Niemann-Pick Type C1 Gene Mutation Associated With Very Severe Disease Course and Marked Early Cerebellar Vermis Atrophy.
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 12, p. 1694, doi. 10.1177/0883073812462765
- By:
- Publication type:
- Article
Very Early Onset and Severe Complicated Phenotype Caused by a New Spastic Paraplegia 3A Gene Mutation.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 10, p. 1348, doi. 10.1177/0883073811435245
- By:
- Publication type:
- Article
The Homozygous Ganglioside-Induced Differentiation-Associated Protein 1 Mutation c.373C > T Causes a Very Early-Onset Neuropathy: Case Report and Literature Review.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
Transient Basal Ganglia and Thalamic Involvement Following Mycoplasma pneumoniae Infection Associated With Antiganglioside Antibodies.
- Published in:
- Journal of Child Neurology, 2010, v. 25, n. 8, p. 1029, doi. 10.1177/0883073809355823
- By:
- Publication type:
- Article
Coexistent Central and Peripheral Nervous System Involvement in a Charcot-Marie-Tooth Syndrome X-linked Patient.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Isolated Vitamin E Deficiency Mimicking Distal Hereditary Motor Neuropathy in a 13-Year-Old Boy.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 11, p. 1328, doi. 10.1177/0883073808318058
- By:
- Publication type:
- Article
Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene.
- Published in:
- Italian Journal of Pediatrics, 2017, v. 43, p. 1, doi. 10.1186/s13052-017-0414-4
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- Publication type:
- Article
Multiple sulfatase deficiency with neonatal manifestation.
- Published in:
- Italian Journal of Pediatrics, 2014, v. 40, n. 1, p. 1, doi. 10.1186/s13052-014-0086-2
- By:
- Publication type:
- Article
Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
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
- By:
- Publication type:
- Article
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.
- Published in:
- Genes, 2023, v. 14, n. 8, p. 1526, doi. 10.3390/genes14081526
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- Publication type:
- Article
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
- Published in:
- Genes, 2022, v. 13, n. 1, p. 29, doi. 10.3390/genes13010029
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- Publication type:
- Article
Guillain-Barrè Syndrome—Retrospective Analysis of Data from a Cohort of Patients Referred to a Tertiary Care Pediatric Neuromuscular Center from 2000 to 2017: Electrophysiological Findings, Outcomes, and a Brief Literature Review.
- Published in:
- Medicina (1010660X), 2024, v. 60, n. 9, p. 1490, doi. 10.3390/medicina60091490
- By:
- Publication type:
- Article
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 2, p. 1248, doi. 10.3390/ijms25021248
- By:
- 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.
- Published in:
- Neurogenetics, 2024, v. 25, n. 3, p. 287, doi. 10.1007/s10048-024-00760-0
- By:
- Publication type:
- Article