X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (33) 33
humans (31) 31
female (23) 23
male (22) 22
animals (13) 13
clinical neurology (13) 13
mutation (13) 13
neurosciences (11) 11
adult (9) 9
middle aged (9) 9
adolescent (8) 8
article (8) 8
child (8) 8
pediatrics (8) 8
aged (7) 7
rats (7) 7
analysis (6) 6
disease models, animal (6) 6
genetics & heredity (6) 6
glycogen storage disease - genetics (6) 6
1,4-alpha-glucan branching enzyme - genetics (5) 5
biochemistry & molecular biology (5) 5
children (5) 5
disease (5) 5
genes (5) 5
magnetic resonance imaging (5) 5
medicine & public health (5) 5
mitochondrial dna (5) 5
mutation - genetics (5) 5
nervous system diseases - genetics (5) 5
urology & nephrology (5) 5
branching enzyme deficiency (4) 4
child, preschool (4) 4
genetic aspects (4) 4
glycogen (4) 4
glycogen debranching enzyme system - genetics (4) 4
glycogen storage disease (4) 4
glycogen storage disease - metabolism (4) 4
glycogen storage disease type iv - genetics (4) 4
infant (4) 4
medicine, research & experimental (4) 4
mutations (4) 4
psychiatry (4) 4
rats, wistar (4) 4
turkey (4) 4
abridged index medicus (3) 3
adult polyglucosan body disease (3) 3
astrocytes (3) 3
biopsy (3) 3
bodies (3) 3
care and treatment (3) 3
conjunctivitis, allergic - drug therapy (3) 3
depression (3) 3
diagnosis (3) 3
diagnosis, differential (3) 3
dysfunction (3) 3
enzymes (3) 3
gbe1 (3) 3
genetic research (3) 3
glycogen branching enzyme (3) 3
glycogen synthase (3) 3
heterozygote (3) 3
infant, newborn (3) 3
life sciences (3) 3
metabolism (3) 3
mice (3) 3
mouse model (3) 3
neurology (3) 3
neuropathy (3) 3
ophthalmology (3) 3
point mutation (3) 3
polyglucosan body disease (3) 3
research (3) 3
research article (3) 3
retrospective studies (3) 3
tears - metabolism (3) 3
turkey - epidemiology (3) 3
1,4-alpha-glucan branching enzyme - deficiency (2) 2
abnormalities (2) 2
acid (2) 2
adriamycin-induced nephrotic syndrome (2) 2
amino acid substitution (2) 2
anemia (2) 2
anti-allergic agents - therapeutic use (2) 2
anxiety (2) 2
apoptosis (2) 2
arginase activity (2) 2
articles (2) 2
association (2) 2
base sequence (2) 2
behcet syndrome - diagnosis (2) 2
brain - pathology (2) 2
branching enzyme (2) 2
branching enzyme gene (2) 2
cattle (2) 2
cells (2) 2
chromosomes, human, pair 3 (2) 2
clinical trials (2) 2
comparative literature (2) 2
congenital, hereditary, and neonatal diseases and abnormalities (2) 2
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Neurology, ISSN 0028-3878, 09/2018, Volume 91, Issue 11, pp. e1077 - e1082
OBJECTIVETo study the variable clinical picture and exercise tolerance of patients with phosphoglycerate kinase (PGK) 1 deficiency and how it relates to... 
2 BROTHERS | DNA-SEQUENCE | HUMAN X-CHROMOSOME | MUTATION | DISEASE | MYOPATHIC FORM | VARIANT | RHABDOMYOLYSIS | EXERCISE | CLINICAL NEUROLOGY | BREAKDOWN
Journal Article
Bilig, ISSN 1301-0549, 09/2018, Volume 87, pp. 59 - 82
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 06/2019, Volume 28, Issue 11, pp. 1782 - 1800
Abstract Charcot–Marie–Tooth disease (CMT) type 2A is a form of peripheral neuropathy, due almost exclusively to dominant mutations in the nuclear gene... 
CONTACTS | FUSION | NEUROPATHY | METABOLISM | CA2 | ABNORMALITIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | CALCIUM | GENETICS & HEREDITY | ENDOPLASMIC-RETICULUM | DYSFUNCTION | MITOFUSIN 2 MUTATIONS | General
Journal Article
Journal Article
BILIG, ISSN 1301-0549, 2018, Volume 87, Issue 87, pp. 59 - 82
The two most well-known works of Orhan Pamuk, The White Castle and My Name is Red, are historical fiction set in the time of the Ottoman Empire. These novels... 
AREA STUDIES | contemporary fiction | Pamuk | Nobel | postcolonial studies | image of Islam | Orientalism | comparative literature | Comparative literature | Islam | Postcolonialism | Novels | Cultural identity | Cultural differences | Fiction | Printed materials
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2015, Volume 24, Issue 23, pp. 1 - 31
Journal Article
European Journal of Immunology, ISSN 0014-2980, 06/2008, Volume 38, Issue 6, pp. 1756 - 1766
A significant fraction of CD1d‐restricted T cells express an invariant T cell receptor (TCR) α‐chain. These highly conserved invariant NKT (iNKT) populations... 
IL‐4 | Clonotypic | Cyclic peptide | Anti‐TCR | Invariant NKT | IL-4 | Anti-TCR | NKT CELLS | CYTOKINE SECRETION | clonotypic | MYELOID DENDRITIC CELLS | ANTIGEN PRESENTATION | PERIPHERAL-BLOOD | IMMUNOLOGY | TUMOR-IMMUNITY | CANCER-PATIENTS | DISTINCT SUBSETS | anti-TCR | KILLER T-CELLS | cyclic peptide | invariant NKT | BRONCHIAL-ASTHMA | Bronchi - chemistry | Humans | Vaccination | Receptors, Antigen, T-Cell, alpha-beta - immunology | Interferon-gamma - metabolism | Galactosylceramides - pharmacology | Lymphocyte Activation - immunology | Antibody Specificity - immunology | Receptors, Antigen, T-Cell - analysis | Antigens, CD1d | Leukocytes, Mononuclear - immunology | Killer Cells, Natural - immunology | Receptors, Antigen, T-Cell - immunology | Bronchi - cytology | Antibodies, Monoclonal - immunology | Antibodies, Monoclonal - pharmacology | Interleukin-4 - metabolism | Mice, Inbred C57BL | Peptides - immunology | Mice, Transgenic | Spleen - cytology | Liver - chemistry | Mice, Knockout | Spleen - chemistry | Monitoring, Immunologic - methods | Killer Cells, Natural - cytology | Animals | Lymphocyte Activation - drug effects | Phytohemagglutinins - pharmacokinetics | Complementarity Determining Regions - immunology | Leukocytes, Mononuclear - cytology | Cell Proliferation - drug effects | Liver - cytology | Mice | Receptors, Antigen, T-Cell - genetics | Antigens, CD1 - genetics | Killer Cells, Natural - metabolism | CD161 | NKT | invariant
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 11/2011, Volume 20, Issue 22, pp. 4430 - 4439
Journal Article
Muscle & Nerve, ISSN 0148-639X, 08/2014, Volume 50, Issue 2, pp. 292 - 295
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 11/2015, Volume 26, Issue 1, p. 16–20
Five Sardinian patients presented in their 5th or 6th decade with progressive limb girdle muscle weakness but their muscle biopsies showed vacuolar myopathy.... 
Life Sciences | Biochemistry, Molecular Biology
Journal Article
JAMA Neurology, ISSN 2168-6149, 04/2015, Volume 72, Issue 4, p. 441
  We describe a deep intronic mutation in adult polyglucosan body disease. Similar mechanisms can also explain manifesting heterozygous cases in other inborn... 
Genes | Mutation | Enzyme kinetics | Patients | Metabolic disorders
Journal Article
JAMA Neurology, ISSN 2168-6149, 04/2015, Volume 72, Issue 4, pp. 441 - 441
We describe a deep intronic mutation in adult polyglucosan body disease. Similar mechanisms can also explain manifesting heterozygous cases in other inborn... 
Journal Article