Results 11 to 20 of about 10,166 (201)

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

Annals of Clinical and Translational Neurology, 2020
Objective Adult polyglucosan body disease (APBD) is an adult‐onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and the consequent accumulation of poorly branched ...
Erin E. Chown, Peixiang Wang, Xiaochu Zhao, Justin J. Crowder, Jordan W. Strober, Mitchell A. Sullivan, Yunlin Xue, Cody S. Bennett, Ami M. Perri, Bret M. Evers, Peter J. Roach, Anna A. Depaoli‐Roach, H. Orhan Akman, Bartholomew A. Pederson, Berge A. Minassian   +14 more
doaj   +2 more sources

Pelaksanaan APBD dalam SANKRI

, 2018
Upaya perbaikan pengelolaan keuangan daerah, khususnya perencanaan APBD, masih merupakan agenda strategis bagi percepatan peningkatan kesejahteraan rakyat di daerah, yang merupakan inti dari kewajiban Daerah, DPRD, dan Kepala Daerah.Failing to plan is planning to fail (Alan Lakein). Kegagalan dalam membuat rencana berarti merencanakan sebuah kegagalan.
Elvira Purnama Sakti Dachi
core   +6 more sources

PENGARUH REFORMASI PENYUSUNAN ANGGARAN TERHADAP KUALITAS APBD KOTA SEMARANG [PDF]

Jurnal Dinamika Akuntansi, 2009
Tujuan dari penelitian ini adalah untuk mendapatkan bukti empiris dampak akuntabilitas publik, partisipasi publik, transparansi publik dan pendekatan kinerja APBD terhadap kualitas APBD di KAbupaten Semarang.
Bestari Dwi Handayani
doaj   +2 more sources

PENGARUH REFORMASI PENYUSUNAN ANGGARAN TERHADAP KUALITAS APBD KOTA SEMARANG

Jurnal Dinamika Akuntansi, 2011
Tujuan dari penelitian ini adalah untuk mendapatkan bukti empiris dampak akuntabilitas publik, partisipasi publik, transparansi publik dan pendekatan kinerja APBD terhadap kualitas APBD di Kabupaten Semarang.
Bestari Dwi Handayani
doaj   +2 more sources

Analisis Faktor-faktor Penyebab Keterlambatan Penetapan APBD Kabupaten Kudus [PDF]

Wacana: Jurnal Sosial dan Humaniora, 2014
APBD memiliki peranan yang sangat penting dalam perencanaan pembangunan daerah. Keterlambatan dalam penetapan APBD akan berdampak langsung terhadap pelaksanaan pembangunan di daerah.
Subechan Subechan, Imam Hanafi, Bambang Santoso Haryono   +2 more
doaj   +2 more sources

Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of <i>GBE1</i>-Related Disease. [PDF]

JIMD Rep
Genetic prevalence study of glycogen storage disease type IV. In collaboration with the Rare Genomes Project at the Broad Institute of MIT and Harvard and the APBD Research Foundation, this study queried and curated variants in GBE1 from ClinVar, HGMD, and gnomAD to calculate the genetic prevalence of glycogen storage disease type IV (GSD IV).
Koch RL, Akman HO, Chown E, Goldman D, Levenson J, Lu Q, Michalovicz Gill LT, Morgan M, Orthmann-Murphy JL, Pires NT, Reef R, Saxe H, Singer-Berk M, Baxter S.   +13 more
europepmc   +2 more sources

TEKNIK PENYUSUNAN ARAH DAN KEBIJAKAN UMUM APBD [PDF]

JURNAL ILMIAH ILMU ADMINISTRASI, 2019
In implementing regional autonomy in a broad, tangible, and responsible manner, budget reform is needed. The main aspect of budget reform is the budget of the traditional budget for the performance budget, and one component that must be developed within the framework of budget implementation is to compile the General Budget Directions and Policies ...
Subandi, Aban
openaire   +3 more sources

Pengaruh Anggaran Pendapatan Dan Belanja Daerah (APBD) Bengkalis Dalam Meningkatkan Taraf Hidup Masyarakat Kabupaten Bengkalis [PDF]

Iqtishaduna: Jurnal Ilmiah Ekonomi Kita, 2013
Diantara tolak ukur pengembangan suatu daerah di Indonesia adalah melalui dana APBD. Bengkalis sebagai salah satu kabupaten di provinsi Riau memiliki dana APBD terbesar kedua di Indonesia.
Dedy Rachmad
doaj   +1 more source

Evaluation of periodontal status and cytokine levels in saliva and gingival crevicular fluid of patients with inflammatory bowel diseases

Journal of Periodontology, Volume 93, Issue 11, Page 1649-1660, November 2022., 2022
Abstract Background Periodontal diseases and inflammatory bowel diseases (IBD, ulcerative colitis [UC] and Crohn disease [CD]) have been reported to present with increased salivary and gingival crevicular fluid (GCF) concentrations of cytokines. The aim of this study was to evaluate the salivary and GCF levels of TNF‐α, IL‐1β, IL‐10, and IL‐17A and ...
Ayaz Enver, Nurdan Ozmeric, Sila Cagri Isler, Murat Toruner, Cigdem Fidan, Gulsah Demirci, Serenay Elgun, Andre Paes B. da Silva   +7 more
wiley   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies. [PDF]

Ann Neurol
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Fogel BL, Klopstock T, Lynch DR, Maltecca F, Verma M, Minassian BA, Platt FM, Gonçalves DF, Puccio H, Roos A, Synofzik M.   +10 more
europepmc   +2 more sources