Menkes and Wilson diseases.

Menkes and Wilson diseases.

Xehetasun bibliografikoak
Egile Nagusiak:	Monaco, A, Chelly, J
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	1995

Antzeko izenburuak

Wilson disease and Menkes disease: new handles on heavy-metal transport.
nork: Bull, P, et al.
Argitaratua: (1994)

Cloning the Wilson disease gene.
nork: Chelly, J, et al.
Argitaratua: (1993)

Characterization of the exon structure of the Menkes disease gene using vectorette PCR.
nork: Tümer, Z, et al.
Argitaratua: (1995)

A Golgi localization signal identified in the Menkes recombinant protein.
nork: Francis, M, et al.
Argitaratua: (1998)

Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice.
nork: George, A, et al.
Argitaratua: (1994)

IDENTIFICATION OF A COPPER-BINDING ATPASE HOMOLOGOUS TO THE MENKES GENE - A CANDIDATE FOR THE WILSON DISEASE GENE
nork: Cox, D, et al.
Argitaratua: (1994)

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.
nork: Bull, P, et al.
Argitaratua: (1993)

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.
nork: Chelly, J, et al.
Argitaratua: (1993)

Genetics of Menkes Disease
nork: J Gordon Millichap
Argitaratua: (1994-11-01)

Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease.
nork: Tümer, Z, et al.
Argitaratua: (1992)

Biochemical Marker for Menkes Disease
nork: J Gordon Millichap
Argitaratua: (1993-02-01)

Menkes' disease: case report Doença de Menkes: relato de caso
nork: Fabio Agertt, et al.
Argitaratua: (2007-03-01)

ANALYSIS OF MUTATIONS AT THE MOTTLED LOCUS IN THE MOUSE, THE POSTULATED MURINE HOMOLOG OF MENKE SYNDROME
nork: Reed, V, et al.
Argitaratua: (1993)

Novel membrane traffic steps regulate the exocytosis of the Menkes disease ATPase.
nork: Cobbold, C, et al.
Argitaratua: (2002)

Menkes disease: Case report
nork: Aayushi Mohan, et al.
Argitaratua: (2018-01-01)

Menkes kinky hair disease
nork: Sanjiv V Choudhary, et al.
Argitaratua: (2012-01-01)

Menkes Disease: Copper-Histidine Therapy
nork: J Gordon Millichap
Argitaratua: (1993-11-01)

Neonatal Diagnosis and Treatment of Menkes Disease
nork: J Gordon Millichap
Argitaratua: (2008-02-01)

Menkes Disease with ‘Ragged Red’ Fibers
nork: J Gordon Millichap
Argitaratua: (1989-01-01)

Emergence of kinky hair in Menkes disease
nork: Hannah A. Oppenheim, et al.
Argitaratua: (2024-05-01)

Reduced Neutrophil Extracellular Trap (NET) Formation During Systemic Inflammation in Mice With Menkes Disease and Wilson Disease: Copper Requirement for NET Release
nork: Iwona Cichon, et al.
Argitaratua: (2020-01-01)

Menkes Maple Syrup Urine Disease: Treatment
nork: J Gordon Millichap
Argitaratua: (1991-02-01)

The Menkes disease ATPase is internalised by a novel membrane traffic route mediated by Rac1 GTPase
nork: Coventry, J, et al.
Argitaratua: (2002)

Menkes’ Syndrome with Cerebellar Hypoplasia
nork: J Gordon Millichap
Argitaratua: (1997-02-01)

Menkes Disease Presenting with Epilepsia Partialis Continua
nork: Tamer Rizk, et al.
Argitaratua: (2014-01-01)

Imaging features that allow for the recognition of Menkes disease
nork: José Iram Mendonça do Rego, et al.
Argitaratua: (2014-05-01)

Menkes kinky hair disease: Role of dermatologist
nork: Bela Jaswantlal Shah, et al.
Argitaratua: (2018-01-01)

Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease
nork: Stephanie Zlatic, et al.
Argitaratua: (2015-09-01)

Response of Fibroblasts from Menkes’ and Wilson’s Copper Metabolism-Related Disorders to Ionizing Radiation: Influence of the Nucleo-Shuttling of the ATM Protein Kinase
nork: Laura El Nachef, et al.
Argitaratua: (2023-12-01)

Almost misdiagnosed Menkes disease: A case report
nork: Yu Guo, et al.
Argitaratua: (2022-04-01)

Clinical expression of Menkes disease in females with normal karyotype
nork: Møller Lisbeth, et al.
Argitaratua: (2012-01-01)

Mottled mice and non-mammalian models of Menkes disease
nork: malgorzata elenartowicz, et al.
Argitaratua: (2015-12-01)

Non-Menkes Type Copper Deficiency
nork: J Gordon Millichap
Argitaratua: (1991-09-01)

The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway.
nork: Cobbold, C, et al.
Argitaratua: (2003)

Menkes disease as a differential diagnosis of child abuse Doença de Menkes como diagnóstico diferencial de abuso de criança
nork: Juliana Harumi Arita, et al.
Argitaratua: (2009-06-01)

Characterization of the Menkes protein copper-binding domains and their role in copper-induced protein relocalization.
nork: Goodyer, I, et al.
Argitaratua: (1999)

Is It a Pathogenic ATP7A Variation and Is It Menkes Disease?
nork: Zeynep Tümer
Argitaratua: (2015-01-01)

Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease
nork: Rozil Gandhi, et al.
Argitaratua: (2012-01-01)

Vacuolization in Myeloid and Erythroid Precursors in a Child with Menkes Disease
nork: Seçil Sayın, et al.
Argitaratua: (2019-08-01)

Imaging findings of Menkes disease, a radiographic mimic of abusive trauma
nork: Oyindamola N. Akinseye, BA, et al.
Argitaratua: (2019-08-01)