| 000 | 05802nam a22004575i 4500 | ||
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| 001 | 978-1-59259-330-9 | ||
| 003 | DE-He213 | ||
| 005 | 20260610083653.0 | ||
| 007 | cr nn 008mamaa | ||
| 008 | 100301s2003 xxu| s |||| 0|eng d | ||
| 020 |
_a9781592593309 _9978-1-59259-330-9 |
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| 024 | 7 |
_a10.1385/1592593305 _2doi |
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| 050 | 4 | _aRC321-580 | |
| 072 | 7 |
_aPSAN _2bicssc |
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_aSCI089000 _2bisacsh |
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_aPSAN _2thema |
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_a612.8 _223 |
| 245 | 1 | 0 |
_aNeurogenetics _h[electronic resource] : _bMethods and Protocols / _cedited by Nicholas T. Potter. |
| 250 | _a1st ed. 2003. | ||
| 264 | 1 |
_aTotowa, NJ : _bHumana Press : _bImprint: Humana, _c2003. |
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| 300 |
_aXIII, 390 p. _bonline resource. |
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| 336 |
_atext _btxt _2rdacontent |
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| 337 |
_acomputer _bc _2rdamedia |
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| 338 |
_aonline resource _bcr _2rdacarrier |
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| 347 |
_atext file _bPDF _2rda |
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| 490 | 1 |
_aMethods in Molecular Biology, _x1940-6029 ; _v217 |
|
| 505 | 0 | _aQuantitative PCR -- Determination of Gene Dosage -- Semiquantitative PCR for the Detection of Exon Rearrangements in the Parkin Gene -- Trinucleotide Repeat Detection -- Detection of FMR1 Trinucleotide Repeat Expansion Mutations Using Southern Blot and PCR Methodologies -- Extreme Expansion Detection in Spinocerebellar Ataxia Type 2 and Type 7 -- Repeat Expansion Detection (RED) and the RED Cloning Strategy -- Repeat Analysis Pooled Isolation and Detection (RAPID) Cloning of Microsatellite Expansions -- DIRECT Technologies for Molecular Cloning of Genes Containing Expanded CAG Repeats -- Antibody-Based Detection of CAG Repeat Expansion Containing Genes -- Detection of Trinucleotide Repeat Containing Genes by Matrix-Assisted Laser Desorption/Ionization (MALDI) Mass Spectrometry -- Fluorescence PCR and GeneScan® Analysis for the Detection of CAG Repeat Expansions Associated with Huntington’s Disease -- Sequence-Based Mutation Detection -- Molecular Detection of Galactosemia Mutations by PCR-ELISA -- Denaturing High-Performance Liquid Chromatography and Sequence Analyses for MECP2 Mutations in Rett Syndrome -- Multiplexed Fluorescence Analysis for Mutations Causing Tay-Sachs Disease -- Single-Strand Conformational Polymorphism Analysis (SSCP) and Sequencing for Ion Channel Gene Mutations -- Pulse Field Gel Electrophoresis for the Detection of Facioscapulohumeral Muscular Dystrophy Gene Rearrangements -- Denaturing Gradient Gel Electrophoresis (DGGE) for Mutation Detection in Duchenne Muscular Dystrophy (DMD) -- Genetic Diagnosis of Charcot-Marie-Tooth Disease -- Analysis of Human Mitochondrial DNA Mutations -- Detection of Mitochondrial DNA Mutations Associated with Leber Hereditary Optic Neuropathy -- Molecular Detection of Imprinted Genes -- PCR-Based Strategies for the Diagnosis ofPrader-Willi/Angelman Syndromes -- Fluorescence In Situ Hybridization (FISH) -- Fluorescence In Situ Hybridization (FISH) for Identifying the Genomic Rearrangements Associated with Three Myelinopathies -- In Vitro Expression Systems and Studies of Protein Expression and Function -- Drosophila Models of Polyglutamine Diseases -- A Comparative Gene Expression Analysis of Emery-Dreifuss Muscular Dystrophy Using a cDNA Microarray -- The COS-7 Cell In Vitro Paradigm to Study Myelin Proteolipid Protein 1 Gene Mutations -- In Vitro Expression Systems for the Huntington Protein -- Heterologous Expression of Ion Channels -- An Assay for Characterizing In Vitro the Kinetics of Polyglutamine Aggregation -- Characterization of Prion Proteins -- Detection of NF1 Mutations Utilizing the Protein Truncation Test (PTT) -- Application of the Protein Truncation Test (PTT) for the Detection of Tuberosis Sclerosis Complex Type 1 and 2 (TSC1 andTSC2) Mutations -- Development and Characterization of Antibodies that Immunoprecipitate the FMR1 Protein -- Immunological Methods for the Analysis of Protein Expression in Neuromuscular Diseases. | |
| 520 | _aThe rapid identification and characterization of neurologically relevant genes holds great potential for understanding not only the pathophysiologic mechanisms of neurological diseases, but also for improving their diagnosis and management. In Neurogenetics: Methods and Protocols, an international panel of recognized academic physicians, researchers, and clinical laboratory diagnosticians describe their best methods for characterizing these genes, their mutations, and their proteins. Providing detailed step-by-step instructions to ensure successful experimental results, these experts cover the key methods for mutation detection and screening, including discussions of quantitative PCR, trinucleotide repeat detection, sequence-based mutation detection, fluorescence in situ hybridization (FISH), in vitro protein expression systems, and studies of protein expression and function. Each method has been thoroughly tested and includes notes on troubleshooting and avoiding pitfalls. Comprehensive and timely, Neurogenetics: Methods and Protocols offers academic neurologists and clinical laboratory diagnosticians an authoritative collection of readily reproducible techniques that can greatly assist with the diagnosis, management, and understanding of the pathophysiologic mechanisms of neurological diseases. | ||
| 650 | 0 | _aNeurosciences. | |
| 650 | 1 | 4 | _aNeuroscience. |
| 700 | 1 |
_aPotter, Nicholas T. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt |
|
| 710 | 2 | _aSpringerLink (Online service) | |
| 773 | 0 | _tSpringer Nature eBook | |
| 776 | 0 | 8 |
_iPrinted edition: _z9780896039902 |
| 776 | 0 | 8 |
_iPrinted edition: _z9781617372902 |
| 776 | 0 | 8 |
_iPrinted edition: _z9781489938077 |
| 830 | 0 |
_aMethods in Molecular Biology, _x1940-6029 ; _v217 |
|
| 856 | 4 | 0 | _uhttps://doi.org/10.1385/1592593305 |
| 912 | _aZDB-2-PRO | ||
| 999 |
_c6798 _d6798 |
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