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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
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Reply: 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
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
Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix–Saguenay.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2483
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- Publication type:
- Article
HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1783
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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
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
- By:
- 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
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
Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT.
- Published in:
- Amino Acids, 2012, v. 42, n. 5, p. 1661, doi. 10.1007/s00726-011-0868-4
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- Publication type:
- Article
Formation of monolayers and bilayer foam films from lamellar, inverted hexagonal and cubic lipid phases.
- Published in:
- European Biophysics Journal, 2003, v. 31, n. 8, p. 626, doi. 10.1007/s00249-002-0263-x
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- 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
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
- By:
- 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
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
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 5, p. 1403, doi. 10.1093/brain/awq057
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- Publication type:
- Article
Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 10, p. 2699, doi. 10.1093/brain/awp198
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- Publication type:
- Article
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 5, p. 1217
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- Publication type:
- Article
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
- Published in:
- Brain: A Journal of Neurology, 2004, v. 127, n. 9, p. 2124, doi. 10.1093/brain/awh232
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- 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
Transthyretin familial amyloid polyneuropathy due to lle107Val mutation mimicking atypical chronic inflammatory demyelinating polyneuropathy: case report.
- Published in:
- 2020
- By:
- Publication type:
- Letter
HINT1 neuropathy in Norway: clinical, genetic and functional profiling.
- Published in:
- 2021
- By:
- Publication type:
- journal article
LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond.
- Published in:
- 2021
- 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
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy.
- Published in:
- Annals of Neurology, 2012, v. 71, n. 1, p. 15, doi. 10.1002/ana.22644
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- Publication type:
- Article
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
- Published in:
- Annals of Neurology, 2009, v. 66, n. 3, p. 415, doi. 10.1002/ana.21724
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- Publication type:
- Article
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 2, p. 276
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- Publication type:
- Article
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
- Published in:
- Annals of Neurology, 2004, v. 55, n. 5, p. 713
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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
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- 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
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- 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
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- Publication type:
- Article
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.
- Published in:
- Journal of Neurology, 2011, v. 258, n. 8, p. 1413, doi. 10.1007/s00415-011-5947-7
- By:
- 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
- By:
- 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
- By:
- 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
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
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
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
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
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
- By:
- Publication type:
- Article
Early Clinical and Electrophysiologic Features of the Two Most Common Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in the Roma (Gypsies).
- Published in:
- Journal of Child Neurology, 2006, v. 21, n. 1, p. 20, doi. 10.1177/08830738060210010401
- By:
- Publication type:
- Article