(Q24299324)

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Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

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scholarly article

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Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly (English)

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RAB39B, member RAS oncogene family

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GOA release 2020-03-11

RAB39B, member RAS oncogene family

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GOA release 2020-03-11

Hans-Hilger Ropers

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17

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Martine Raynaud

19

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Andreas Tzschach

12

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18

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Vera M. Kalscheuer

13

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20

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Daniela Toniolo

22

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Patrizia D'Adamo

object named as

Patrizia D'Adamo

23

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Maria Lidia Mignogna

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Maria Lidia Mignogna

3

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Charles E. Schwartz

16

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Charles E Schwartz

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Arjan P M de Brouwer

21

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Arjan P M de Brouwer

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author name string

Maila Giannandrea

1

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Veronica Bianchi

2

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Alessandra Sirri

4

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Salvatore Carrabino

5

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Errico D'Elia

6

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Matteo Vecellio

7

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Silvia Russo

8

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Francesca Cogliati

9

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Lidia Larizza

10

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Barbara Oehl-Jaschkowitz

14

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Cindy Skinner

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language of work or name

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publication date

12 February 2010

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American Journal of Human Genetics

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86

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2

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185-95

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describes a project that uses

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Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2820185/fullTextXML

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

1 reference

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Golgi-resident small GTPase Rab33B interacts with Atg16L and modulates autophagosome formation

1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

1 reference

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Evolution of the Rab family of small GTP-binding proteins

1 reference

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siRNA vs. shRNA: similarities and differences

1 reference

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Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training.

1 reference

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Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders

1 reference

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VAMP4 cycles from the cell surface to the trans-Golgi network via sorting and recycling endosomes

1 reference

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Formation of microtubule-based traps controls the sorting and concentration of vesicles to restricted sites of regenerating neurons after axotomy

1 reference

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Targeting Rab GTPases to distinct membrane compartments

1 reference

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Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

1 reference

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Mutations in GDI1 are responsible for X-linked non-specific mental retardation

1 reference

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Nonspecific X-linked mental retardation I: a review with information from 24 new families

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Rat hippocampal neurons in dispersed cell culture.

1 reference

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Microglia activated by IL-4 or IFN-gamma differentially induce neurogenesis and oligodendrogenesis from adult stem/progenitor cells.

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A novel RAB7 mutation associated with ulcero-mutilating neuropathy

1 reference

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Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice.

1 reference

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29 November 2018

Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820185

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The mammalian Rab family of small GTPases: definition of family and subfamily sequence motifs suggests a mechanism for functional specificity in the Ras superfamily.

1 reference

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A discussion on the measurement of growth and form; the theory of differential growth analysis

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transduction of a gene expression cassette using advanced generation lentiviral vectors

1 reference

https://pubmed.ncbi.nlm.nih.gov/20159109

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2010.01.011

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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