Found: 67
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Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.
- Published in:
- Movement Disorders, 2012, v. 27, n. 10, p. 1295, doi. 10.1002/mds.25008
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- Publication type:
- Article
A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.
- Published in:
- Human Genetics, 2007, v. 122, n. 3/4, p. 261, doi. 10.1007/s00439-007-0396-1
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- Publication type:
- Article
Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 12, p. 3481, doi. 10.3390/cells10123481
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- Publication type:
- Article
GABA<sub>A</sub> Receptor γ2 Subunit Mutations Linked to Human Epileptic Syndromes Differentially Affect Phasic and Tonic Inhibition.
- Published in:
- Journal of Neuroscience, 2007, v. 27, n. 51, p. 14108, doi. 10.1523/JNEUROSCI.2618-07.2007
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- Publication type:
- Article
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
- Published in:
- Neurogenetics, 2012, v. 13, n. 3, p. 215, doi. 10.1007/s10048-012-0329-6
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- Publication type:
- Article
Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes.
- Published in:
- 2008
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- Publication type:
- Letter
A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Familial adult myoclonic epilepsy (FAME): clinical features, molecular characteristics, pathophysiological aspects and diagnostic work-up.
- Published in:
- Medizinische Genetik, 2021, v. 33, n. 4, p. 311, doi. 10.1515/medgen-2021-2100
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- Publication type:
- Article
GC-rich repeat expansions: associated disorders and mechanisms.
- Published in:
- Medizinische Genetik, 2021, v. 33, n. 4, p. 325, doi. 10.1515/medgen-2021-2099
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- Publication type:
- Article
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): from clinical diagnosis towards genetic testing.
- Published in:
- Medizinische Genetik, 2021, v. 33, n. 4, p. 301, doi. 10.1515/medgen-2021-2098
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- Publication type:
- Article
Tandem repeat expansions: the good, the bad and the hidden.
- Published in:
- 2021
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- Publication type:
- Editorial
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 1075, doi. 10.1093/brain/awac160
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- Publication type:
- Article
Pentameric repeat expansions: cortical myoclonus or cortical tremor?
- Published in:
- 2020
- By:
- Publication type:
- letter
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
- Published in:
- 2018
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- Publication type:
- journal article
Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Genetic association signal near NTN4 in Tourette syndrome.
- Published in:
- 2014
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- Publication type:
- journal article
Genetic association signal near NTN 4 in Tourette syndrome.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 2, p. 310, doi. 10.1002/ana.24215
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- Publication type:
- Article
Novel Variants of SOX4 in Patients with Intellectual Disability.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3519, doi. 10.3390/ijms24043519
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- Publication type:
- Article
NIPA1 ( SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Mental deficiency in three families with SPG4 spastic paraplegia.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 1, p. 97, doi. 10.1038/sj.ejhg.5201922
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- Publication type:
- Article
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 9, p. 1, doi. 10.1371/journal.pgen.1004580
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- Publication type:
- Article
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 2, p. 1, doi. 10.1371/journal.pgen.1000381
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- Publication type:
- Article
Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.
- Published in:
- Tremor & Other Hyperkinetic Movements, 2019, p. 1, doi. 10.7916/tohm.v0.693
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- Publication type:
- Article
Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome.
- Published in:
- Skeletal Muscle, 2024, v. 14, n. 1, p. 1, doi. 10.1186/s13395-024-00348-0
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- Publication type:
- Article
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 5, p. 444, doi. 10.1111/cge.14203
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- Publication type:
- Article
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 2, p. 318, doi. 10.1111/cge.13878
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- Publication type:
- Article
Dalfampridine in hereditary spastic paraplegia: a prospective, open study.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 5, p. 1285, doi. 10.1007/s00415-015-7707-6
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- Publication type:
- Article
Congenital mirror movements: no mutation in DNAL4 in 17 index cases.
- Published in:
- 2014
- By:
- Publication type:
- Letter
Heterogeneous Pattern of Selective Pressure for PRRT2 in Human Populations, but No Association with Autism Spectrum Disorders.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0088600
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- Publication type:
- Article
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
- Published in:
- Human Genetics, 2018, v. 137, n. 9, p. 753, doi. 10.1007/s00439-018-1929-5
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- Publication type:
- Article
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
- Published in:
- Human Genetics, 2017, v. 136, n. 4, p. 463, doi. 10.1007/s00439-017-1772-0
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- Publication type:
- Article
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
- Published in:
- Human Genetics, 2016, v. 135, n. 10, p. 1117, doi. 10.1007/s00439-016-1700-8
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- Publication type:
- Article
Mutations in the netrin-1 gene cause congenital mirror movements.
- Published in:
- Journal of Clinical Investigation, 2017, v. 127, n. 11, p. 3923, doi. 10.1172/JCI95442
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- Publication type:
- Article
Targeted versus untargeted omics — the CAFSA story.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 447, doi. 10.1007/s10545-017-0134-3
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- Publication type:
- Article
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.81032
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- Publication type:
- Article
Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3170, doi. 10.1002/ajmg.a.34334
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- Publication type:
- Article
Annonacin, a Natural Mitochondrial Complex I Inhibitor, Causes Tau Pathology in Cultured Neurons.
- Published in:
- Journal of Neuroscience, 2007, v. 27, n. 29, p. 7827, doi. 10.1523/JNEUROSCI.1644-07.2007
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- Publication type:
- Article
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 397, doi. 10.1002/humu.20876
- By:
- Publication type:
- Article
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E376, doi. 10.1002/humu.20920
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- Publication type:
- Article
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.
- Published in:
- Human Mutation, 2006, v. 27, n. 4, p. 389, doi. 10.1002/humu.9419
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- Publication type:
- Article
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
- Published in:
- 2016
- By:
- Publication type:
- journal article
RAD51 deficiency disrupts the corticospinal lateralization of motor control.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 11, p. 3333, doi. 10.1093/brain/awt258
- By:
- Publication type:
- Article
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 10, p. 2980, doi. 10.1093/brain/aws240
- By:
- Publication type:
- Article
Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Congenital mirror movements: a clue to understanding bimanual motor control.
- Published in:
- Journal of Neurology, 2011, v. 258, n. 11, p. 1911, doi. 10.1007/s00415-011-6107-9
- By:
- Publication type:
- Article
Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study.
- Published in:
- Movement Disorders, 2022, v. 37, n. 12, p. 2427, doi. 10.1002/mds.29221
- By:
- Publication type:
- Article
A mutation update for the PCDH19 gene causing early‐onset epilepsy in females with an unusual expression pattern.
- Published in:
- Human Mutation, 2019, v. 40, n. 3, p. 243, doi. 10.1002/humu.23701
- By:
- Publication type:
- Article
PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 627, doi. 10.1002/humu.22029
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- Publication type:
- Article