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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
De novo FTL mutation: A clinical, neuroimaging, and molecular study.
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- Movement Disorders, 2013, v. 28, n. 2, p. 252, doi. 10.1002/mds.25275
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- Publication type:
- Article
Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.
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- Movement Disorders, 2011, v. 26, n. 3, p. 553, doi. 10.1002/mds.23552
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- Publication type:
- Article
Identification of a de novo mutation in SPG11.
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- Movement Disorders, 2010, v. 25, n. 4, p. 501, doi. 10.1002/mds.22964
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- Publication type:
- Article
A novel locus for autosomal recessive spastic ataxia on chromosome 17p.
- Published in:
- Human Genetics, 2007, v. 121, n. 3/4, p. 413, doi. 10.1007/s00439-007-0328-0
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- Publication type:
- Article
Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease.
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- Cells (2073-4409), 2022, v. 11, n. 11, p. 1840, doi. 10.3390/cells11111840
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- Publication type:
- Article
Evolution of Epileptiform Activity in Zebrafish by Statistical-Based Integration of Electrophysiology and 2-Photon Ca2+ Imaging.
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- Cells (2073-4409), 2020, v. 9, n. 3, p. 769, doi. 10.3390/cells9030769
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- Publication type:
- Article
Formyl Peptide Receptor (FPR)1 Modulation by Resveratrol in an LPS-Induced Neuroinflammatory Animal Model.
- Published in:
- Nutrients, 2021, v. 13, n. 5, p. 1418, doi. 10.3390/nu13051418
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- Publication type:
- Article
Nutraceutical Screening in a Zebrafish Model of Muscular Dystrophy: Gingerol as a Possible Food Aid.
- Published in:
- Nutrients, 2021, v. 13, n. 3, p. 998, doi. 10.3390/nu13030998
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- Publication type:
- Article
Mitochondrial DNA Analysis in Ocular Myopathy.
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- European Neurology, 1998, v. 39, n. 3, p. 148, doi. 10.1159/000007925
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- Publication type:
- Article
Early Onset of Diabetes Mellitus Associated with the Mitochondrial DNA T14709C Point Mutation: Patient Report and Literature Review.
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- Journal of Pediatric Endocrinology & Metabolism, 1999, v. 12, n. 2, p. 207, doi. 10.1515/jpem.1999.12.2.207
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- Publication type:
- Article
Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation.
- Published in:
- Acta Myologica, 2022, v. 41, n. 4, p. 201, doi. 10.36185/2532-1900-085
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- Publication type:
- Article
AUTOMA: a wearable device to assess the upper limb muscular activity in patients with neuromuscular disorders.
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- Acta Myologica, 2021, v. 40, n. 4, p. 143, doi. 10.36185/2532-1900-057
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- Publication type:
- Article
Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports.
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- Acta Myologica, 2020, v. 39, n. 4, p. 218, doi. 10.36185/2532-1900-025
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- Publication type:
- Article
Learning disabilities in neuromuscular disorders: a springboard for adult life.
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- Acta Myologica, 2016, v. 35, p. 90
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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
Of cognition and cerebellum in SCA48.
- Published in:
- 2020
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- Publication type:
- Letter
Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis.
- Published in:
- Neurogenetics, 2018, v. 19, n. 1, p. 1, doi. 10.1007/s10048-017-0532-6
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- Publication type:
- Article
Spinocerebellar Ataxia Type 3 in Italy: Time to Change Mind.
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- Neuroepidemiology, 2016, v. 46, n. 4, p. 268, doi. 10.1159/000444642
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- Publication type:
- Article
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype.
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- Human Molecular Genetics, 2014, v. 23, n. 18, p. 4875, doi. 10.1093/hmg/ddu201
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- Publication type:
- Article
Possible Involvement of the CACNA1E Gene in Migraine: A Search for Single Nucleotide Polymorphism in Different Clinical Phenotypes.
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- Headache: The Journal of Head & Face Pain, 2017, v. 57, n. 7, p. 1136, doi. 10.1111/head.13107
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- Publication type:
- Article
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
- Published in:
- 2021
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- Publication type:
- journal article
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
- Published in:
- 2021
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- Publication type:
- journal article
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
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- 2021
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- Publication type:
- journal article
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
- Published in:
- 2019
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- Publication type:
- journal 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
Short-Term Effects of Human versus Bovine Sialylated Milk Oligosaccharide Microinjection on Zebrafish Larvae Survival, Locomotor Behavior and Gene Expression.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5456, doi. 10.3390/ijms24065456
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- Publication type:
- Article
Converging Role for REEP1/SPG31 in Oxidative Stress.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3527, doi. 10.3390/ijms24043527
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- Publication type:
- Article
Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8401, doi. 10.3390/ijms22168401
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- Publication type:
- Article
Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 8325, doi. 10.3390/ijms22158325
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- Publication type:
- Article
Fishing in the Cell Powerhouse: Zebrafish as A Tool for Exploration of Mitochondrial Defects Affecting the Nervous System.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 10, p. 2409, doi. 10.3390/ijms20102409
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- Publication type:
- Article
Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features - a case report.
- Published in:
- 2016
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- Publication type:
- Case Study
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean.
- Published in:
- Neurogenetics, 2006, v. 7, n. 2, p. 111, doi. 10.1007/s10048-005-0024-y
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- Publication type:
- Article
Molecular genotype in migraine.
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- Journal of Headache & Pain, 2015, v. 16, p. 1, doi. 10.1186/1129-2377-16-S1-A30
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- Publication type:
- Article
Drug consumption in medication overuse headache is influenced by brain-derived neurotrophic factor Val66Met polymorphism.
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- Journal of Headache & Pain, 2009, v. 10, n. 5, p. 349, doi. 10.1007/s10194-009-0136-0
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- Publication type:
- Article
STUB1‐Related Ataxias: A Challenging Diagnosis.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 6, p. 733, doi. 10.1002/mdc3.12992
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- Publication type:
- Article
Reply from the authors.
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- Hepatology Research, 2012, v. 42, n. 11, p. 1153, doi. 10.1111/j.1872-034X.2012.01053.x
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- Publication type:
- Article
Paternal isodisomy of chromosome 2 in a child with bile salt export pump deficiency.
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- Hepatology Research, 2012, v. 42, n. 3, p. 327, doi. 10.1111/j.1872-034X.2011.00925.x
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- Publication type:
- Article
Expanding the clinical and genetic heterogeneity of SPAX5.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 595, doi. 10.1002/acn3.51024
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- Publication type:
- Article
Expansion of the genetic landscape of ERLIN2‐related disorders.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 573, doi. 10.1002/acn3.51007
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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
Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study.
- Published in:
- Frontiers in Neurology, 2020, p. 1, doi. 10.3389/fneur.2020.00082
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- Publication type:
- Article
A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00580
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- Publication type:
- Article
Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue.
- Published in:
- 2023
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- Publication type:
- Editorial
Maternally inherited deafness associated with a T1095C mutation in the mDNA.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 2, p. 147, doi. 10.1038/sj.ejhg.5200601
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- Publication type:
- Article
MtDNA-related idiopathic dilated cardiomyopathy.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 847, doi. 10.1038/sj.ejhg.5200380
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- Publication type:
- Article
Genetic heterogeneity of myoclonus epilepsy with ragged-red fibers syndrome.
- Published in:
- 1998
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- Publication type:
- case study
EEG and Granular Osmiophilic Elements in Early-Onset Alzheimer's Disease.
- Published in:
- Neurodegenerative Diseases, 2011, v. 8, n. 4, p. 259, doi. 10.1159/000322539
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- Publication type:
- Article
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
- Published in:
- Nature Genetics, 2007, v. 39, n. 3, p. 366, doi. 10.1038/ng1980
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- Publication type:
- Article
Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis.
- Published in:
- Journal of Neurochemistry, 2004, v. 90, n. 2, p. 490, doi. 10.1111/j.1471-4159.2004.02505.x
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- Publication type:
- Article