Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. (Record no. 23365328)
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| fixed length control field | 03081 a2200925 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516184950.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201403s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1546-1718 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ng.2851 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Logan, Clare V |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140325 |
| 245 00 - TITLE STATEMENT | |
| Title | Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Feb 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 188-93 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Analysis of Variance |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Calcium Channels |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Calcium Signaling |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Calcium-Binding Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cation Transport Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA, Complementary |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Extrapyramidal Tracts |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fluorescent Antibody Technique |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Histological Techniques |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Immunohistochemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Learning Disabilities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Membrane Potential, Mitochondrial |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondria |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Membrane Transport Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Movement Disorders |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscular Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Quadriceps Muscle |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Real-Time Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Szabadkai, György |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sharpe, Jenny A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Parry, David A |
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| Personal name | Torelli, Silvia |
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| Personal name | Childs, Anne-Marie |
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| Personal name | Johnson, Colin A |
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| Personal name | Roberts, Nicola Y |
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| Personal name | Bonthron, David T |
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| Personal name | Pysden, Karen A |
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| Personal name | Whyte, Tamieka |
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| Personal name | Munteanu, Iulia |
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| Personal name | Foley, A Reghan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wheway, Gabrielle |
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| Personal name | Szymanska, Katarzyna |
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| Personal name | Natarajan, Subaashini |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abdelhamed, Zakia A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morgan, Joanne E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roper, Helen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Santen, Gijs W E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Niks, Erik H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Pol, W Ludo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lindhout, Dick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Raffaello, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Stefani, Diego |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | den Dunnen, Johan T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sun, Yu |
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| Personal name | Ginjaar, Ieke |
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| Personal name | Sewry, Caroline A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hurles, Matthew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rizzuto, Rosario |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Duchen, Michael R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muntoni, Francesco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sheridan, Eamonn |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 46 |
| -- | no. 2 |
| -- | p. 188-93 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng.2851">https://doi.org/10.1038/ng.2851</a> |
| Public note | Available from publisher's website |
No items available.