Found: 72
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Mind-body control: a new perspective on motor neuron function.
- Published in:
- Signal Transduction & Targeted Therapy, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41392-024-01922-0
- By:
- Publication type:
- Article
Identification and Characterization of Novel Founder Mutations in NDRG1 : Refining the Genetic Landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 9047, doi. 10.3390/ijms25169047
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- Publication type:
- Article
Surface Properties and Behavior of Lipid Extracts from Plasma Membranes of Cells Cultured as Monolayer and in Tissue-Like Conditions.
- Published in:
- Cell Biochemistry & Biophysics, 2009, v. 54, n. 1-3, p. 47, doi. 10.1007/s12013-009-9050-y
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- Publication type:
- Article
Reply: Mutations in TUBB4A and spastic paraplegia.
- Published in:
- 2015
- By:
- Publication type:
- commentary
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
- Published in:
- Movement Disorders, 2015, v. 30, n. 6, p. 854, doi. 10.1002/mds.26196
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- Publication type:
- Article
Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 18, p. N.PAG, doi. 10.3390/cells11182804
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- Publication type:
- Article
Transthyretin familial amyloid polyneuropathy due to lle107Val mutation mimicking atypical chronic inflammatory demyelinating polyneuropathy: case report.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.
- Published in:
- 2019
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- Publication type:
- journal article
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.
- Published in:
- Neurogenetics, 2019, v. 20, n. 3, p. 117, doi. 10.1007/s10048-019-00576-3
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- Publication type:
- Article
L239F founder mutation in GDAP1 is associated with a mild Charcot–Marie–Tooth type 4C4 (CMT4C4) phenotype.
- Published in:
- Neurogenetics, 2010, v. 11, n. 3, p. 357, doi. 10.1007/s10048-010-0237-6
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- Publication type:
- Article
2176insC: A Novel Mutation in Exon 13 of the Cystic Fibrosis Gene.
- Published in:
- Human Heredity, 1996, v. 46, n. 3, p. 166, doi. 10.1159/000154346
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- Publication type:
- Article
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 15, p. 2975, doi. 10.1093/hmg/ddt149
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- Publication type:
- Article
Axonal neuropathy with neuromyotonia: there is a HINT.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
- Published in:
- 2017
- By:
- Publication type:
- journal article
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.
- Published in:
- 2016
- By:
- Publication type:
- journal article
An Adapted GeneSwitch Toolkit for Comparable Cellular and Animal Models: A Proof of Concept in Modeling Charcot-Marie-Tooth Neuropathy.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16138, doi. 10.3390/ijms242216138
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- Publication type:
- Article
Drosophila Models for Charcot–Marie–Tooth Neuropathy Related to Aminoacyl-tRNA Synthetases.
- Published in:
- Genes, 2021, v. 12, n. 10, p. 1519, doi. 10.3390/genes12101519
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- Publication type:
- Article
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.
- Published in:
- Nature Genetics, 2006, v. 38, n. 2, p. 197, doi. 10.1038/ng1727
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- Publication type:
- Article
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.
- Published in:
- Nature Genetics, 2004, v. 36, n. 6, p. 597, doi. 10.1038/ng1328
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- Publication type:
- Article
Cognitive, Neuropsychiatric, and Motor Features Associated With Apolipoprotein E ∊4 Allele in a Sample of Bulgarian Patients With Late-Onset Parkinson’s Disease.
- Published in:
- 2014
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- Publication type:
- Journal Article
Cognitive, Neuropsychiatric, and Motor Features Associated With Apolipoprotein E ∊4 Allele in a Sample of Bulgarian Patients With Late-Onset Parkinson’s Disease.
- Published in:
- American Journal of Alzheimer's Disease & Other Dementias, 2014, v. 29, n. 7, p. 614, doi. 10.1177/1533317514525655
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- Publication type:
- Article
Novel PSEN1 Mutation in a Bulgarian Patient With Very Early-Onset Alzheimer's Disease, Spastic Paraparesis, and Extrapyramidal Signs.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
Alterations in the content and physiological role of sphingomyelin in plasma membranes of cells cultured in three-dimensional matrix.
- Published in:
- Molecular & Cellular Biochemistry, 2010, v. 340, n. 1/2, p. 215, doi. 10.1007/s11010-010-0420-y
- By:
- Publication type:
- Article
SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype.
- Published in:
- Turkish Journal of Pediatrics, 2020, v. 62, n. 5, p. 711, doi. 10.24953/turkjped.2020.05.002
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- Publication type:
- Article
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
- Published in:
- Journal of Neurology, 2017, v. 264, n. 8, p. 1655, doi. 10.1007/s00415-017-8474-3
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- Publication type:
- Article
Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.
- Published in:
- Journal of Neurology, 2016, v. 263, n. 3, p. 467, doi. 10.1007/s00415-015-7989-8
- By:
- Publication type:
- Article
NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
- Published in:
- Journal of Neurology, 2016, v. 263, n. 2, p. 361, doi. 10.1007/s00415-015-7985-z
- By:
- Publication type:
- Article
NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 5, p. 1289, doi. 10.1007/s00415-015-7709-4
- By:
- Publication type:
- Article
Study of the Mechanism of the Antimicrobial Activity of Novel Water Soluble Ammonium Quaternary Benzanthrone on Model Membranes.
- Published in:
- 2020
- By:
- Publication type:
- journal article
CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.
- Published in:
- Nature, 2015, v. 526, n. 7575, p. 710, doi. 10.1038/nature15510
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- Publication type:
- Article
Creatine Deficiency Syndrome could be Missed Easily: A Case Report of Guanidinoacetate Methyltransferase Deficiency Presented with Neurodevelopmental Delay, Seizures, and Behavioral Changes, but Normal Structural MRI.
- Published in:
- Annals of Clinical & Laboratory Science, 2016, v. 46, n. 5, p. 557
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- Publication type:
- Article
Biochemical and Biophysical Investigation of Surfactant in Neonatal Gastric Aspirate at Birt.
- Published in:
- Acta Médica Portuguesa, 2013, v. 26, n. 1, p. 33, doi. 10.20344/amp.4010
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- Publication type:
- Article
Unraveling the genetics of distal hereditary motor neuronopathies.
- Published in:
- NeuroMolecular Medicine, 2006, v. 8, n. 1/2, p. 131, doi. 10.1385/NMM:8:1-2:131
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- Publication type:
- Article
Sensing and Microbiological Activity of a New Blue Fluorescence Polyamidoamine Dendrimer Modified with 1,8-Naphthalimide Units.
- Published in:
- Molecules, 2024, v. 29, n. 9, p. 1960, doi. 10.3390/molecules29091960
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- Publication type:
- Article
Alternative stable conformation capable of protein misinteraction links tRNA synthetase to peripheral neuropathy.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 13, p. 8091, doi. 10.1093/nar/gkx455
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- Publication type:
- Article
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.
- Published in:
- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186642
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- Publication type:
- Article
ESTABLISHING A SNP GENOTYPING AND GENE EXPRESSION CORE AT MOLECULAR MEDICINE CENTRE, MEDICAL UNIVERSITY, SOFIA.
- Published in:
- Advances in Bulgarian Science, 2007, v. 2, p. 22
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- Publication type:
- Article
The SCN1A variant database: a novel research and diagnostic tool.
- Published in:
- 2009
- By:
- Publication type:
- Other
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease (Communicated by Christine van Broeckhoven).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
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- Publication type:
- Article
Mutation screening of the N?myc downstream?regulated gene 1 (NDRG1) in patients with Charcot?Marie?Tooth DiseaseCommunicated by Christine van Broeckhoven.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
- By:
- Publication type:
- Article
Deletion analysis of Bulgarian SMA families.
- Published in:
- Human Mutation, 1998, v. 12, n. 1, p. 33, doi. 10.1002/(SICI)1098-1004(1998)12:1<33::AID-HUMU5>3.0.CO;2-Y
- By:
- Publication type:
- Article
SSCP analysis: A blind sensitivity trial.
- Published in:
- Human Mutation, 1997, v. 10, n. 1, p. 65, doi. 10.1002/(SICI)1098-1004(1997)10:1<65::AID-HUMU9>3.0.CO;2-L
- By:
- Publication type:
- Article
Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 219, doi. 10.1002/humu.1380060304
- By:
- Publication type:
- Article
Synthesis, Spectral Characteristics, Sensing Properties and Microbiological Activity of New Water-Soluble 4-Sulfo-1,8-naphthalimides.
- Published in:
- Chemosensors, 2024, v. 12, n. 5, p. 79, doi. 10.3390/chemosensors12050079
- By:
- Publication type:
- Article
Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12909-9
- By:
- Publication type:
- Article
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.
- Published in:
- 2015
- By:
- Publication type:
- letter
The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.
- Published in:
- 2015
- By:
- Publication type:
- letter
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 293, doi. 10.1093/brain/awu356
- By:
- Publication type:
- Article
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.
- Published in:
- 2014
- By:
- Publication type:
- journal article