| 000 | 03029nam a2200265 4500 | ||
|---|---|---|---|
| 999 |
_c129546 _d129546 |
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| 005 | 20190715190442.0 | ||
| 008 | 190711b ||||| |||| 00| 0 eng d | ||
| 020 | _a9780444632333 | ||
| 082 |
_aWL340 _bGES |
||
| 100 |
_aGeschwind, Daniel H. _9666 |
||
| 245 | _aNeurogenetics - 2 Parts | ||
| 260 |
_aAmsterdam _bElsevier _c27 cm. |
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| 300 |
_axix, 391 p. _c27 cm. _fPart I |
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| 300 |
_a xx, 395-826 p. _c27 cm. _fPart II |
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| 440 |
_aHandbook of clinical neurology _vVol.147, Part I _9667 |
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| 440 |
_vVol.148, Part II _9741 |
||
| 500 | _aSection I. Basic genetic concepts. Clinical approach to the patient with neurogenetic disease / Thomas Bird Genetic and genomic testing for neurological disease in clinical practice / Brent L. Fogel and Daniel Geschwind Ethical issues in neurogenetics / Wendy R. Uhlmann Evolving views of human genetic variation and its relationship to neurologic and psychiatric disease / Daniel Geschwind Epigenetic mechanisms underlying nervous system diseases / Mark F. Mehler and Irfan Qureshi Pharmacogenetics / Jeffrey R. Bishop Bioinformatics and genomic databases / Giovanni Coppola and Jason Chen Towards precision medicine / Pedro Gonzalez-Alegre Section II. Recurring biological themes in neurogenetics. Repeat expansion diseases / Henry Lauris Paulson Mitochondrial diseases / Carolyn Sue The CAG-polyglutamine repeat diseases: A clinical, molecular, genetic and pathophysiological nosology / Albert R. La Spada Section III. Movement disorders. Autosomal dominant cerebellar ataxias / Vikram Shakkottai Autosomal recessive cerebellar ataxias / Brent L. Fogel Genetics of Parkinson disease / Aloysius Domingo and Christine Klein Essential Tremor / Elan Louis and Lorraine Clark Inherited dystonias: Clinical features and molecular pathways / Corinne Elise Weisheit, Samuel S. Pappas and William Dauer Huntington's Disease / Sarah Tabrizi, Rhia Ghosh and Amanda Dolphin Wilson Disease and related copper disorders / Matthew Lorincz Neurodegeneration with brain iron accumulation (NBIA) / Susan Judith Hayflick and Penny Hogarth Primary familial brain calcifications / Maria-Jesus Sobrido Section IV. Neurodevelopmental disorders. Genetics of autism spectrum disorder / Daniel Geschwind The emerging genetic landscape of cerebral palsy / Clare Louise van Eyk, Mark Corbett and Alastair MacLennan Tourette disorder and other tic disorders / Thomas Fernandez, Matthew William State and Christopher Pittenger Sex chromosome aneuploidies / David Skuse, Frida Printzlau and Jeanne Wolstencroft Fragile X syndrome and fragile X-associated tremor ataxia syndrome / Deborah Ann Hall. | ||
| 650 |
_aNeurogenetics _9668 |
||
| 650 |
_aGenetic Diseases, Inborn _9669 |
||
| 650 |
_aNervous System Diseases - genetics _9670 |
||
| 700 |
_aPaulson, Henry L. _eeditor _9671 |
||
| 700 |
_aKlein, Christine _eeditor _9672 |
||
| 700 |
_aAminoff, Michael J. et. al _eSeries editors _9673 |
||
| 942 | _cRF | ||