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An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome
An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome
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An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome

Tumer, Zeynep

Human mutation, 2013-03, Vol.34 (3), p.417-429 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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2
ATP7A-related copper transport disorders : a systematic review and definition of the clinical subtypes
ATP7A-related copper transport disorders : a systematic review and definition of the clinical subtypes
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ATP7A-related copper transport disorders : a systematic review and definition of the clinical subtypes

De Feyter, Silke ; Beyens, Aude ; Callewaert, Bert

Wiley 2023

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3
Inherited Copper Transport Disorders: Biochemical Mechanisms, Diagnosis, and Treatment
Inherited Copper Transport Disorders: Biochemical Mechanisms, Diagnosis, and Treatment
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Inherited Copper Transport Disorders: Biochemical Mechanisms, Diagnosis, and Treatment

Kodama, Hiroko ; Fujisawa, Chie ; Bhadhprasit, Wattanaporn

Current drug metabolism, 2012-03, Vol.13 (3), p.237-250 [Periódico revisado por pares]

Netherlands: Bentham Science Publishers Ltd

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4
ATP7A‐related copper transport disorders: A systematic review and definition of the clinical subtypes
ATP7A‐related copper transport disorders: A systematic review and definition of the clinical subtypes
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ATP7A‐related copper transport disorders: A systematic review and definition of the clinical subtypes

De Feyter, S. ; Beyens, A. ; Callewaert, B.

Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.163-173 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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5
ATP7A mutation with occipital horns and distal motor neuropathy: A continuum
ATP7A mutation with occipital horns and distal motor neuropathy: A continuum
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ATP7A mutation with occipital horns and distal motor neuropathy: A continuum

Fradin, Melanie ; Lavillaureix, Alinoe ; Jaillard, Sylvie ; Quelin, Chloe ; Sauleau, Paul ; Minot, Marie-Christine ; Menard, Dominique ; Edan, Gilles ; Ceballos, Irene ; Treguier, Catherine ; Proisy, Maia ; Magdelaine, Corinne ; Lia, Anne-Sophie ; Odent, Sylvie ; Pasquier, Laurent

European journal of medical genetics, 2020-12, Vol.63 (12), p.104087-104087, Article 104087 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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6
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype
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Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype

Harkness, J. Robert ; Thomas, Huw B. ; Urquhart, Jill E. ; Jamieson, Peter ; O'Keefe, Raymond T. ; Kingston, Helen M. ; Deshpande, Charulata ; Newman, William G.

European journal of medical genetics, 2024-02, Vol.67, p.104907-104907, Article 104907 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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7
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
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Copper Toxicity Associated With an ATP7A-Related Complex Phenotype

Natera-de Benito, Daniel ; Sola, Abel ; Sousa, Paulo Rego ; Boronat, Susana ; Expósito-Escudero, Jessica ; Carrera-García, Laura ; Ortez, Carlos ; Jou, Cristina ; Muchart, Jordi ; Rebollo, Monica ; Armstrong, Judith ; Colomer, Jaume ; Garcia-Cazorla, Àngels ; Hoenicka, Janet ; Palau, Francesc ; Nascimento, Andres

Pediatric neurology, 2021-06, Vol.119, p.40-44 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Wilson disease and related copper disorders
Wilson disease and related copper disorders
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Wilson disease and related copper disorders

Lorincz, Matthew T.

Handbook of Clinical Neurology, 2018, Vol.147, p.279-292 [Periódico revisado por pares]

Netherlands: Elsevier Health Sciences

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9
Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis
Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis
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Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis

Telianidis, Jonathon ; Hung, Ya Hui ; Materia, Stephanie ; Fontaine, Sharon La

Frontiers in aging neuroscience, 2013, Vol.5, p.44-44 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

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10
Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature
Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature
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Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature

Beyens, Aude ; Van Meensel, Kyaran ; Pottie, Lore ; De Rycke, Riet ; De Bruyne, Michiel ; Baeke, Femke ; Hoebeke, Piet ; Plasschaert, Frank ; Loeys, Bart ; De Schepper, Sofie ; Symoens, Sofie ; Callewaert, Bert

Genes, 2019-07, Vol.10 (7), p.528 [Periódico revisado por pares]

Switzerland: MDPI AG

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