Found: 33
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Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 9, p. 1072, doi. 10.1002/mdc3.14157
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- Publication type:
- Article
Neurophysiological Analysis of Cortical Myoclonic Tremor and Excessive Startle in ARHGEF9 Deficiency.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 4, p. 434, doi. 10.1002/mdc3.13986
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- Article
Fever‐Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy.
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- Movement Disorders Clinical Practice, 2022, v. 9, p. S41, doi. 10.1002/mdc3.13525
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- Article
Fever‐Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy.
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- Movement Disorders Clinical Practice, 2022, v. 9, p. S41, doi. 10.1002/mdc3.13525
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- Publication type:
- Article
Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 2, p. 154, doi. 10.1002/mdc3.12897
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- Article
Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 1, p. 118, doi. 10.1002/mdc3.12865
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- Article
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
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- 2022
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- Publication type:
- journal article
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4422, doi. 10.3390/ijms23084422
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- Article
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8490, doi. 10.3390/ijms22168490
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- Article
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 16, p. 5802, doi. 10.3390/ijms21165802
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- Article
Bradykinesia and dystonia.
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- Dystonia (2813-2106), 2023, p. 1, doi. 10.3389/dyst.2023.11448
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- Article
Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1403815
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- Publication type:
- Article
Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 522, doi. 10.1002/ajmg.a.62548
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- Article
Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.
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- 2020
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- Publication type:
- journal article
Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.
- Published in:
- Frontiers in Neurology, 2022, p. 1, doi. 10.3389/fneur.2022.855134
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- Publication type:
- Article
DSM‐5 personality domains as correlates of non‐suicidal self‐injury severity in an Italian sample of adolescent inpatients with self‐destructive behaviour.
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- Personality & Mental Health, 2019, v. 13, n. 4, p. 205, doi. 10.1002/pmh.1462
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- Article
Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.
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- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 8, p. 996, doi. 10.1002/acn3.597
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- Article
Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling.
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.886751
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- Publication type:
- Article
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.
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- Journal of Neurology, 2022, v. 269, n. 3, p. 1476, doi. 10.1007/s00415-021-10712-5
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- Publication type:
- Article
Diagnostic and Therapeutic Challenges of Comorbid ASD, ADHD and Psychosis: A Case Report.
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- Behavioral Sciences (2076-328X), 2022, v. 12, n. 10, p. N.PAG, doi. 10.3390/bs12100382
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- Publication type:
- Article
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.
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- Human Molecular Genetics, 2022, v. 31, n. 6, p. 929, doi. 10.1093/hmg/ddab296
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- Publication type:
- Article
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.
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- Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01145-y
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- Publication type:
- Article
A next generation sequencing‐based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.
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- European Journal of Neurology, 2021, v. 28, n. 8, p. 2784, doi. 10.1111/ene.14868
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- Publication type:
- Article
Severe Acute Motor Exacerbations (SAME) across Metabolic, Developmental and Genetic Disorders.
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- Movement Disorders, 2024, v. 39, n. 9, p. 1446, doi. 10.1002/mds.29905
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- Publication type:
- Article
Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.
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- Movement Disorders, 2024, v. 39, n. 7, p. 1225, doi. 10.1002/mds.29795
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- Publication type:
- Article
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum.
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- Movement Disorders, 2023, v. 38, n. 12, p. 2313, doi. 10.1002/mds.29585
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- Publication type:
- Article
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
- Published in:
- 2019
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- Publication type:
- journal article
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans.
- Published in:
- Frontiers in Molecular Neuroscience, 2023, p. 1, doi. 10.3389/fnmol.2023.1170061
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- Publication type:
- Article
Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease.
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- Genes, 2023, v. 14, n. 2, p. 319, doi. 10.3390/genes14020319
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- Publication type:
- Article
Misdiagnosis of functional neurological symptom disorders in paediatrics: Narrative review and relevant case report.
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- Clinical Child Psychology & Psychiatry, 2024, v. 29, n. 3, p. 1026, doi. 10.1177/13591045241240805
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- Publication type:
- Article
Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders.
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- Journal of Neural Transmission, 2022, v. 129, n. 8, p. 1011, doi. 10.1007/s00702-022-02527-z
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- Publication type:
- Article
Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency.
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- Movement Disorders, 2013, v. 28, n. 4, p. 556, doi. 10.1002/mds.25303
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- Publication type:
- Article
Dissecting pain processing in adolescents with Non‐Suicidal Self Injury: Could suicide risk lurk among the electrodes?
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- European Journal of Pain, 2021, v. 25, n. 8, p. 1815, doi. 10.1002/ejp.1793
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- Publication type:
- Article