The neurology of carbonic anhydrase type II deficiency syndrome (Q50432361)

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title

The neurology of carbonic anhydrase type II deficiency syndrome (English)

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13 March 2018

author

Mustafa A. Salih

2

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Wim Van Hul

object named as

Wim Van Hul

15

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author name string

Thomas M Bosley

1

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Ibrahim A Alorainy

3

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M Zahidul Islam

4

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Darren T Oystreck

5

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Omer S M Suliman

6

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Salem al Malki

7

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Adel H Suhaibani

8

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Hattan Khiari

9

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Sigri Beckers

10

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Liesbeth van Wesenbeeck

11

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Bram Perdu

12

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Abdulmajeed AlDrees

13

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Salah A Elmalik

14

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Khaled K Abu-Amero

16

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language of work or name

English

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publication date

26 November 2011

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13 March 2018

published in

Brain

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volume

134

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issue

Pt 12

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page(s)

3502-3515

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Amygdalae calcifications associated with disease duration in lipoid proteinosis

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Heredofamilial brain calcinosis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Catalysis and inhibition of human carbonic anhydrase IV.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Clinical characterization of the HOXA1 syndrome BSAS variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Intracranial calcification in children with osteopetrosis caused by carbonic anhydrase II deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Marble brain syndrome: osteopetrosis, renal acidosis and calcification of the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Carbonic anhydrase II in the developing and adult human brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Correction of renal tubular acidosis in carbonic anhydrase II-deficient mice with gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

The bicarbonate transport metabolon

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Oligodendrocyte reactions and cell proliferation markers in human demyelinating diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Clinical correlations of CT scan-detected calcifications of the basal ganglia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

The gene for human carbonic anhydrase II (CA2) is located at chromosome 8q22

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Molecular mechanism of kNBC1-carbonic anhydrase II interaction in proximal tubule cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Human carbonic anhydrases and carbonic anhydrase deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

The chemical composition of idiopathic nonarteriosclerotic cerebral calcifications

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Variable clinical presentation of carbonic anhydrase deficiency: evidence for heterogeneity?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Carbonic anhydrase gating of attention: memory therapy and enhancement

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Developmental expression of carbonic anhydrase-related proteins VIII, X, and XI in the human brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Expression of carbonic anhydrase II mRNA and protein in oligodendrocytes during toxic demyelination in the young adult mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Polymorphic gene for human carbonic anhydrase II: a molecular disease marker located on chromosome 8.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

Carbonic anhydrase inhibitors. Inhibition of cytosolic isozymes I and II and transmembrane, tumor-associated isozyme IX with sulfamates including EMATE also acting as steroid sulfatase inhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR302

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWR302

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13 March 2018

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13 March 2018