(Q29147451)

GOA release 2020-03-11

intellectual disability

1 reference

disability affecting intellectual abilities

inferred from title

1 reference

1

0 references

Masoud Garshasbi

object named as

Masoud Garshasbi

4

0 references

author name string

Lucia Püttmann

2

1 reference

4 April 2017

Kimia Kahrizi

3

1 reference

4 April 2017

Hao Hu

5

1 reference

4 April 2017

Henning Stehr

6

1 reference

4 April 2017

Bettina Lipkowitz

7

1 reference

4 April 2017

Sabine Otto

8

1 reference

4 April 2017

Lars R. Jensen

9

1 reference

4 April 2017

Andreas Tzschach

10

1 reference

4 April 2017

Payman Jamali

11

1 reference

4 April 2017

Thomas Wienker

12

1 reference

4 April 2017

Hossein Najmabadi

13

1 reference

4 April 2017

Hans Hilger Ropers

14

1 reference

4 April 2017

Andreas W. Kuss

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

15

1 reference

4 April 2017

25 February 2017

1 reference

4 April 2017

1 reference

4 April 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

A method and server for predicting damaging missense mutations

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Computational method to predict mitochondrially imported proteins and their targeting sequences

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Locating proteins in the cell using TargetP, SignalP and related tools

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Consolidation and translation regulation

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

A map of human genome variation from population-scale sequencing

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Identification and characterization of human mitochondrial tryptophanyl-tRNA synthetase

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Predicting deleterious amino acid substitutions

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

MutationTaster evaluates disease-causing potential of sequence alterations

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

STRING v10: protein-protein interaction networks, integrated over the tree of life

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Neuronal selenoprotein expression is required for interneuron development and prevents seizures and neurodegeneration

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Unique domain appended to vertebrate tRNA synthetase is essential for vascular development

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Detection of nonneutral substitution rates on mammalian phylogenies

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Transfer RNA and human disease

22 May 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

What is a functional genetic polymorphism? Defining classes of functionality

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Persistence of long-term memory storage: new insights into its molecular signatures in the hippocampus and related structures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Progression of neurodegeneration and morphologic changes in the brains of juvenile mice with selenoprotein P deleted

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Identification of a mutation in LARS as a novel cause of infantile hepatopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Translational regulatory mechanisms in synaptic plasticity and memory storage

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

SCide: identification of stabilization centers in proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Noncanonical activity of seryl-tRNA synthetase is involved in vascular development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

ST3GAL3 mutations impair the development of higher cognitive functions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Molecular genetics of distal hereditary motor neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Local translation of mRNAs in neural development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Large-scale genotyping of complex DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Mitochondrial aminoacyl-tRNA synthetases in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Cleavage of E-cadherin and β-catenin by calpain affects Wnt signaling and spheroid formation in suspension cultures of human pluripotent stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

A novel representation of protein sequences for prediction of subcellular location using support vector machines

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Genetics of recessive cognitive disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Tryptamine induces axonopathy and mitochondriopathy mimicking neurodegenerative diseases via tryptophanyl-tRNA deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Assessing computational methods for predicting protein stability upon mutation: good on average but not in the details.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Aminoacyl-tRNA synthetases catalyze AMP----ADP----ATP exchange reactions, indicating labile covalent enzyme-amino-acid intermediates

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Neurodegenerative disease-associated mutants of a human mitochondrial aminoacyl-tRNA synthetase present individual molecular signatures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Aminoacyl-tRNA Synthetases: General Features and Recognition of Transfer RNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Pathogenic implications of human mitochondrial aminoacyl-tRNA synthetases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Loss of GABAergic neurons in the hippocampus and cerebral cortex of Engrailed-2 null mutant mice: implications for autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Making and breaking synapses through local mRNA regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Synaptic dysfunction and intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Modulation of tRNAAla identity by inorganic pyrophosphatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Aminoacyl-tRNA synthetases in medicine and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

Oxidative stress in neurodegeneration: cause or consequence?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

7 January 2021

inferred from DOI database lookup

Predicting free energy changes using structural ensembles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

7 January 2021

inferred from DOI database lookup

Labeling mitochondria with MitoTracker dyes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23205

7 January 2021