Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes
There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetica...
Ausführliche Beschreibung
Autor*in: |
Batla, Amit [verfasserIn] |
---|
Format: |
E-Artikel |
---|---|
Sprache: |
Englisch |
Erschienen: |
2017 |
---|
Schlagwörter: |
---|
Umfang: |
10 |
---|
Übergeordnetes Werk: |
Enthalten in: Parkinsonism & related disorders - Aral, Efecan ELSEVIER, 2022, official journal of the World Federation of Neurology Research Committee on Parkinsonism and Related Disorders, Amsterdam [u.a.] |
---|---|
Übergeordnetes Werk: |
volume:37 ; year:2017 ; pages:1-10 ; extent:10 |
Links: |
---|
DOI / URN: |
10.1016/j.parkreldis.2016.12.024 |
---|
Katalog-ID: |
ELV036082732 |
---|
LEADER | 01000caa a22002652 4500 | ||
---|---|---|---|
001 | ELV036082732 | ||
003 | DE-627 | ||
005 | 20230624025113.0 | ||
007 | cr uuu---uuuuu | ||
008 | 180603s2017 xx |||||o 00| ||eng c | ||
024 | 7 | |a 10.1016/j.parkreldis.2016.12.024 |2 doi | |
028 | 5 | 2 | |a GBVA2017018000019.pica |
035 | |a (DE-627)ELV036082732 | ||
035 | |a (ELSEVIER)S1353-8020(16)30517-X | ||
040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
041 | |a eng | ||
082 | 0 | |a 610 | |
082 | 0 | 4 | |a 610 |q DE-600 |
082 | 0 | 4 | |a 610 |q VZ |
084 | |a 42.13 |2 bkl | ||
084 | |a 44.33 |2 bkl | ||
100 | 1 | |a Batla, Amit |e verfasserin |4 aut | |
245 | 1 | 0 | |a Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes |
264 | 1 | |c 2017 | |
300 | |a 10 | ||
336 | |a nicht spezifiziert |b zzz |2 rdacontent | ||
337 | |a nicht spezifiziert |b z |2 rdamedia | ||
338 | |a nicht spezifiziert |b zu |2 rdacarrier | ||
520 | |a There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. | ||
650 | 7 | |a Primary familial brain calcification |2 Elsevier | |
650 | 7 | |a Basal ganglia calcification |2 Elsevier | |
650 | 7 | |a Hypoparathyroid |2 Elsevier | |
650 | 7 | |a Fahr's disease |2 Elsevier | |
650 | 7 | |a SLC20A2 |2 Elsevier | |
700 | 1 | |a Tai, Xin You |4 oth | |
700 | 1 | |a Schottlaender, Lucia |4 oth | |
700 | 1 | |a Erro, Robert |4 oth | |
700 | 1 | |a Balint, Bettina |4 oth | |
700 | 1 | |a Bhatia, Kailash P. |4 oth | |
773 | 0 | 8 | |i Enthalten in |n Elsevier Science |a Aral, Efecan ELSEVIER |t Parkinsonism & related disorders |d 2022 |d official journal of the World Federation of Neurology Research Committee on Parkinsonism and Related Disorders |g Amsterdam [u.a.] |w (DE-627)ELV009218491 |
773 | 1 | 8 | |g volume:37 |g year:2017 |g pages:1-10 |g extent:10 |
856 | 4 | 0 | |u https://doi.org/10.1016/j.parkreldis.2016.12.024 |3 Volltext |
912 | |a GBV_USEFLAG_U | ||
912 | |a GBV_ELV | ||
912 | |a SYSFLAG_U | ||
912 | |a SSG-OLC-PHA | ||
936 | b | k | |a 42.13 |j Molekularbiologie |q VZ |
936 | b | k | |a 44.33 |j Physiologische Chemie |q VZ |
951 | |a AR | ||
952 | |d 37 |j 2017 |h 1-10 |g 10 | ||
953 | |2 045F |a 610 |
author_variant |
a b ab |
---|---|
matchkey_str |
batlaamittaixinyouschottlaenderluciaerro:2017----:eosrcigardsaeydoefricliiain |
hierarchy_sort_str |
2017 |
bklnumber |
42.13 44.33 |
publishDate |
2017 |
allfields |
10.1016/j.parkreldis.2016.12.024 doi GBVA2017018000019.pica (DE-627)ELV036082732 (ELSEVIER)S1353-8020(16)30517-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 42.13 bkl 44.33 bkl Batla, Amit verfasserin aut Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes 2017 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. Primary familial brain calcification Elsevier Basal ganglia calcification Elsevier Hypoparathyroid Elsevier Fahr's disease Elsevier SLC20A2 Elsevier Tai, Xin You oth Schottlaender, Lucia oth Erro, Robert oth Balint, Bettina oth Bhatia, Kailash P. oth Enthalten in Elsevier Science Aral, Efecan ELSEVIER Parkinsonism & related disorders 2022 official journal of the World Federation of Neurology Research Committee on Parkinsonism and Related Disorders Amsterdam [u.a.] (DE-627)ELV009218491 volume:37 year:2017 pages:1-10 extent:10 https://doi.org/10.1016/j.parkreldis.2016.12.024 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 42.13 Molekularbiologie VZ 44.33 Physiologische Chemie VZ AR 37 2017 1-10 10 045F 610 |
spelling |
10.1016/j.parkreldis.2016.12.024 doi GBVA2017018000019.pica (DE-627)ELV036082732 (ELSEVIER)S1353-8020(16)30517-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 42.13 bkl 44.33 bkl Batla, Amit verfasserin aut Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes 2017 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. Primary familial brain calcification Elsevier Basal ganglia calcification Elsevier Hypoparathyroid Elsevier Fahr's disease Elsevier SLC20A2 Elsevier Tai, Xin You oth Schottlaender, Lucia oth Erro, Robert oth Balint, Bettina oth Bhatia, Kailash P. oth Enthalten in Elsevier Science Aral, Efecan ELSEVIER Parkinsonism & related disorders 2022 official journal of the World Federation of Neurology Research Committee on Parkinsonism and Related Disorders Amsterdam [u.a.] (DE-627)ELV009218491 volume:37 year:2017 pages:1-10 extent:10 https://doi.org/10.1016/j.parkreldis.2016.12.024 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 42.13 Molekularbiologie VZ 44.33 Physiologische Chemie VZ AR 37 2017 1-10 10 045F 610 |
allfields_unstemmed |
10.1016/j.parkreldis.2016.12.024 doi GBVA2017018000019.pica (DE-627)ELV036082732 (ELSEVIER)S1353-8020(16)30517-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 42.13 bkl 44.33 bkl Batla, Amit verfasserin aut Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes 2017 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. Primary familial brain calcification Elsevier Basal ganglia calcification Elsevier Hypoparathyroid Elsevier Fahr's disease Elsevier SLC20A2 Elsevier Tai, Xin You oth Schottlaender, Lucia oth Erro, Robert oth Balint, Bettina oth Bhatia, Kailash P. oth Enthalten in Elsevier Science Aral, Efecan ELSEVIER Parkinsonism & related disorders 2022 official journal of the World Federation of Neurology Research Committee on Parkinsonism and Related Disorders Amsterdam [u.a.] (DE-627)ELV009218491 volume:37 year:2017 pages:1-10 extent:10 https://doi.org/10.1016/j.parkreldis.2016.12.024 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 42.13 Molekularbiologie VZ 44.33 Physiologische Chemie VZ AR 37 2017 1-10 10 045F 610 |
allfieldsGer |
10.1016/j.parkreldis.2016.12.024 doi GBVA2017018000019.pica (DE-627)ELV036082732 (ELSEVIER)S1353-8020(16)30517-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 42.13 bkl 44.33 bkl Batla, Amit verfasserin aut Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes 2017 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. Primary familial brain calcification Elsevier Basal ganglia calcification Elsevier Hypoparathyroid Elsevier Fahr's disease Elsevier SLC20A2 Elsevier Tai, Xin You oth Schottlaender, Lucia oth Erro, Robert oth Balint, Bettina oth Bhatia, Kailash P. oth Enthalten in Elsevier Science Aral, Efecan ELSEVIER Parkinsonism & related disorders 2022 official journal of the World Federation of Neurology Research Committee on Parkinsonism and Related Disorders Amsterdam [u.a.] (DE-627)ELV009218491 volume:37 year:2017 pages:1-10 extent:10 https://doi.org/10.1016/j.parkreldis.2016.12.024 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 42.13 Molekularbiologie VZ 44.33 Physiologische Chemie VZ AR 37 2017 1-10 10 045F 610 |
allfieldsSound |
10.1016/j.parkreldis.2016.12.024 doi GBVA2017018000019.pica (DE-627)ELV036082732 (ELSEVIER)S1353-8020(16)30517-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 42.13 bkl 44.33 bkl Batla, Amit verfasserin aut Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes 2017 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. Primary familial brain calcification Elsevier Basal ganglia calcification Elsevier Hypoparathyroid Elsevier Fahr's disease Elsevier SLC20A2 Elsevier Tai, Xin You oth Schottlaender, Lucia oth Erro, Robert oth Balint, Bettina oth Bhatia, Kailash P. oth Enthalten in Elsevier Science Aral, Efecan ELSEVIER Parkinsonism & related disorders 2022 official journal of the World Federation of Neurology Research Committee on Parkinsonism and Related Disorders Amsterdam [u.a.] (DE-627)ELV009218491 volume:37 year:2017 pages:1-10 extent:10 https://doi.org/10.1016/j.parkreldis.2016.12.024 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 42.13 Molekularbiologie VZ 44.33 Physiologische Chemie VZ AR 37 2017 1-10 10 045F 610 |
language |
English |
source |
Enthalten in Parkinsonism & related disorders Amsterdam [u.a.] volume:37 year:2017 pages:1-10 extent:10 |
sourceStr |
Enthalten in Parkinsonism & related disorders Amsterdam [u.a.] volume:37 year:2017 pages:1-10 extent:10 |
format_phy_str_mv |
Article |
bklname |
Molekularbiologie Physiologische Chemie |
institution |
findex.gbv.de |
topic_facet |
Primary familial brain calcification Basal ganglia calcification Hypoparathyroid Fahr's disease SLC20A2 |
dewey-raw |
610 |
isfreeaccess_bool |
false |
container_title |
Parkinsonism & related disorders |
authorswithroles_txt_mv |
Batla, Amit @@aut@@ Tai, Xin You @@oth@@ Schottlaender, Lucia @@oth@@ Erro, Robert @@oth@@ Balint, Bettina @@oth@@ Bhatia, Kailash P. @@oth@@ |
publishDateDaySort_date |
2017-01-01T00:00:00Z |
hierarchy_top_id |
ELV009218491 |
dewey-sort |
3610 |
id |
ELV036082732 |
language_de |
englisch |
fullrecord |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">ELV036082732</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230624025113.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">180603s2017 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/j.parkreldis.2016.12.024</subfield><subfield code="2">doi</subfield></datafield><datafield tag="028" ind1="5" ind2="2"><subfield code="a">GBVA2017018000019.pica</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV036082732</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S1353-8020(16)30517-X</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">610</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">DE-600</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">42.13</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.33</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Batla, Amit</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2017</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">10</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">z</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zu</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined.</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Primary familial brain calcification</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Basal ganglia calcification</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Hypoparathyroid</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Fahr's disease</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">SLC20A2</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Tai, Xin You</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Schottlaender, Lucia</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Erro, Robert</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Balint, Bettina</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Bhatia, Kailash P.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="n">Elsevier Science</subfield><subfield code="a">Aral, Efecan ELSEVIER</subfield><subfield code="t">Parkinsonism & related disorders</subfield><subfield code="d">2022</subfield><subfield code="d">official journal of the World Federation of Neurology Research Committee on Parkinsonism and Related Disorders</subfield><subfield code="g">Amsterdam [u.a.]</subfield><subfield code="w">(DE-627)ELV009218491</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:37</subfield><subfield code="g">year:2017</subfield><subfield code="g">pages:1-10</subfield><subfield code="g">extent:10</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1016/j.parkreldis.2016.12.024</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ELV</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-PHA</subfield></datafield><datafield tag="936" ind1="b" ind2="k"><subfield code="a">42.13</subfield><subfield code="j">Molekularbiologie</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="936" ind1="b" ind2="k"><subfield code="a">44.33</subfield><subfield code="j">Physiologische Chemie</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">37</subfield><subfield code="j">2017</subfield><subfield code="h">1-10</subfield><subfield code="g">10</subfield></datafield><datafield tag="953" ind1=" " ind2=" "><subfield code="2">045F</subfield><subfield code="a">610</subfield></datafield></record></collection>
|
author |
Batla, Amit |
spellingShingle |
Batla, Amit ddc 610 bkl 42.13 bkl 44.33 Elsevier Primary familial brain calcification Elsevier Basal ganglia calcification Elsevier Hypoparathyroid Elsevier Fahr's disease Elsevier SLC20A2 Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes |
authorStr |
Batla, Amit |
ppnlink_with_tag_str_mv |
@@773@@(DE-627)ELV009218491 |
format |
electronic Article |
dewey-ones |
610 - Medicine & health |
delete_txt_mv |
keep |
author_role |
aut |
collection |
elsevier |
remote_str |
true |
illustrated |
Not Illustrated |
topic_title |
610 610 DE-600 610 VZ 42.13 bkl 44.33 bkl Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes Primary familial brain calcification Elsevier Basal ganglia calcification Elsevier Hypoparathyroid Elsevier Fahr's disease Elsevier SLC20A2 Elsevier |
topic |
ddc 610 bkl 42.13 bkl 44.33 Elsevier Primary familial brain calcification Elsevier Basal ganglia calcification Elsevier Hypoparathyroid Elsevier Fahr's disease Elsevier SLC20A2 |
topic_unstemmed |
ddc 610 bkl 42.13 bkl 44.33 Elsevier Primary familial brain calcification Elsevier Basal ganglia calcification Elsevier Hypoparathyroid Elsevier Fahr's disease Elsevier SLC20A2 |
topic_browse |
ddc 610 bkl 42.13 bkl 44.33 Elsevier Primary familial brain calcification Elsevier Basal ganglia calcification Elsevier Hypoparathyroid Elsevier Fahr's disease Elsevier SLC20A2 |
format_facet |
Elektronische Aufsätze Aufsätze Elektronische Ressource |
format_main_str_mv |
Text Zeitschrift/Artikel |
carriertype_str_mv |
zu |
author2_variant |
x y t xy xyt l s ls r e re b b bb k p b kp kpb |
hierarchy_parent_title |
Parkinsonism & related disorders |
hierarchy_parent_id |
ELV009218491 |
dewey-tens |
610 - Medicine & health |
hierarchy_top_title |
Parkinsonism & related disorders |
isfreeaccess_txt |
false |
familylinks_str_mv |
(DE-627)ELV009218491 |
title |
Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes |
ctrlnum |
(DE-627)ELV036082732 (ELSEVIER)S1353-8020(16)30517-X |
title_full |
Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes |
author_sort |
Batla, Amit |
journal |
Parkinsonism & related disorders |
journalStr |
Parkinsonism & related disorders |
lang_code |
eng |
isOA_bool |
false |
dewey-hundreds |
600 - Technology |
recordtype |
marc |
publishDateSort |
2017 |
contenttype_str_mv |
zzz |
container_start_page |
1 |
author_browse |
Batla, Amit |
container_volume |
37 |
physical |
10 |
class |
610 610 DE-600 610 VZ 42.13 bkl 44.33 bkl |
format_se |
Elektronische Aufsätze |
author-letter |
Batla, Amit |
doi_str_mv |
10.1016/j.parkreldis.2016.12.024 |
dewey-full |
610 |
title_sort |
deconstructing fahr's disease/syndrome of brain calcification in the era of new genes |
title_auth |
Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes |
abstract |
There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. |
abstractGer |
There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. |
abstract_unstemmed |
There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. |
collection_details |
GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA |
title_short |
Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes |
url |
https://doi.org/10.1016/j.parkreldis.2016.12.024 |
remote_bool |
true |
author2 |
Tai, Xin You Schottlaender, Lucia Erro, Robert Balint, Bettina Bhatia, Kailash P. |
author2Str |
Tai, Xin You Schottlaender, Lucia Erro, Robert Balint, Bettina Bhatia, Kailash P. |
ppnlink |
ELV009218491 |
mediatype_str_mv |
z |
isOA_txt |
false |
hochschulschrift_bool |
false |
author2_role |
oth oth oth oth oth |
doi_str |
10.1016/j.parkreldis.2016.12.024 |
up_date |
2024-07-06T19:15:15.779Z |
_version_ |
1803858283887329280 |
fullrecord_marcxml |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">ELV036082732</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230624025113.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">180603s2017 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/j.parkreldis.2016.12.024</subfield><subfield code="2">doi</subfield></datafield><datafield tag="028" ind1="5" ind2="2"><subfield code="a">GBVA2017018000019.pica</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV036082732</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S1353-8020(16)30517-X</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">610</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">DE-600</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">42.13</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.33</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Batla, Amit</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2017</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">10</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">z</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zu</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined.</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Primary familial brain calcification</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Basal ganglia calcification</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Hypoparathyroid</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Fahr's disease</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">SLC20A2</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Tai, Xin You</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Schottlaender, Lucia</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Erro, Robert</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Balint, Bettina</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Bhatia, Kailash P.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="n">Elsevier Science</subfield><subfield code="a">Aral, Efecan ELSEVIER</subfield><subfield code="t">Parkinsonism & related disorders</subfield><subfield code="d">2022</subfield><subfield code="d">official journal of the World Federation of Neurology Research Committee on Parkinsonism and Related Disorders</subfield><subfield code="g">Amsterdam [u.a.]</subfield><subfield code="w">(DE-627)ELV009218491</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:37</subfield><subfield code="g">year:2017</subfield><subfield code="g">pages:1-10</subfield><subfield code="g">extent:10</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1016/j.parkreldis.2016.12.024</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ELV</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-PHA</subfield></datafield><datafield tag="936" ind1="b" ind2="k"><subfield code="a">42.13</subfield><subfield code="j">Molekularbiologie</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="936" ind1="b" ind2="k"><subfield code="a">44.33</subfield><subfield code="j">Physiologische Chemie</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">37</subfield><subfield code="j">2017</subfield><subfield code="h">1-10</subfield><subfield code="g">10</subfield></datafield><datafield tag="953" ind1=" " ind2=" "><subfield code="2">045F</subfield><subfield code="a">610</subfield></datafield></record></collection>
|
score |
7.399728 |