Dropped-head in recessive oculopharyngeal muscular dystrophy
• First case of dropped-head in recessive OPMD expanding clinical phenotype. • Eighth case of recessive OPMD worldwide reported and the first one in Italy. • Dropped-head could be an unusual presentation of recessive OPMD. • Later onset and phenotype variability seem to be more frequent in recessive...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Garibaldi, Matteo [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2015 |
|---|
| Umfang: |
4 |
|---|
| Übergeordnetes Werk: |
Enthalten in: Sperm competition in golden cuttlefish - Guo, Haoyu ELSEVIER, 2020, official journal of the World Muscle Society, Amsterdam [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:25 ; year:2015 ; number:11 ; pages:869-872 ; extent:4 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.nmd.2015.08.011 |
|---|
| Katalog-ID: |
ELV018724841 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | ELV018724841 | ||
| 003 | DE-627 | ||
| 005 | 20230623144355.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 180602s2015 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.nmd.2015.08.011 |2 doi | |
| 028 | 5 | 2 | |a GBVA2015017000011.pica |
| 035 | |a (DE-627)ELV018724841 | ||
| 035 | |a (ELSEVIER)S0960-8966(15)00714-2 | ||
| 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 570 |a 550 |q VZ |
| 084 | |a BIODIV |q DE-30 |2 fid | ||
| 084 | |a 48.68 |2 bkl | ||
| 100 | 1 | |a Garibaldi, Matteo |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Dropped-head in recessive oculopharyngeal muscular dystrophy |
| 264 | 1 | |c 2015 | |
| 300 | |a 4 | ||
| 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 • First case of dropped-head in recessive OPMD expanding clinical phenotype. • Eighth case of recessive OPMD worldwide reported and the first one in Italy. • Dropped-head could be an unusual presentation of recessive OPMD. • Later onset and phenotype variability seem to be more frequent in recessive OPMD. • Recessive OPMD could be underdiagnosed. | ||
| 700 | 1 | |a Pennisi, Elena Maria |4 oth | |
| 700 | 1 | |a Bruttini, Mirella |4 oth | |
| 700 | 1 | |a Bizzarri, Veronica |4 oth | |
| 700 | 1 | |a Bucci, Elisabetta |4 oth | |
| 700 | 1 | |a Morino, Stefania |4 oth | |
| 700 | 1 | |a Talerico, Caterina |4 oth | |
| 700 | 1 | |a Stoppacciaro, Antonella |4 oth | |
| 700 | 1 | |a Renieri, Alessandra |4 oth | |
| 700 | 1 | |a Antonini, Giovanni |4 oth | |
| 773 | 0 | 8 | |i Enthalten in |n Elsevier Science |a Guo, Haoyu ELSEVIER |t Sperm competition in golden cuttlefish |d 2020 |d official journal of the World Muscle Society |g Amsterdam [u.a.] |w (DE-627)ELV004843940 |
| 773 | 1 | 8 | |g volume:25 |g year:2015 |g number:11 |g pages:869-872 |g extent:4 |
| 856 | 4 | 0 | |u https://doi.org/10.1016/j.nmd.2015.08.011 |3 Volltext |
| 912 | |a GBV_USEFLAG_U | ||
| 912 | |a GBV_ELV | ||
| 912 | |a SYSFLAG_U | ||
| 912 | |a FID-BIODIV | ||
| 912 | |a SSG-OLC-PHA | ||
| 936 | b | k | |a 48.68 |j Aquakultur |q VZ |
| 951 | |a AR | ||
| 952 | |d 25 |j 2015 |e 11 |h 869-872 |g 4 | ||
| 953 | |2 045F |a 610 | ||
| author_variant |
m g mg |
|---|---|
| matchkey_str |
garibaldimatteopennisielenamariabruttini:2015----:rpehaircsieclpaygam |
| hierarchy_sort_str |
2015 |
| bklnumber |
48.68 |
| publishDate |
2015 |
| allfields |
10.1016/j.nmd.2015.08.011 doi GBVA2015017000011.pica (DE-627)ELV018724841 (ELSEVIER)S0960-8966(15)00714-2 DE-627 ger DE-627 rakwb eng 610 610 DE-600 570 550 VZ BIODIV DE-30 fid 48.68 bkl Garibaldi, Matteo verfasserin aut Dropped-head in recessive oculopharyngeal muscular dystrophy 2015 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier • First case of dropped-head in recessive OPMD expanding clinical phenotype. • Eighth case of recessive OPMD worldwide reported and the first one in Italy. • Dropped-head could be an unusual presentation of recessive OPMD. • Later onset and phenotype variability seem to be more frequent in recessive OPMD. • Recessive OPMD could be underdiagnosed. Pennisi, Elena Maria oth Bruttini, Mirella oth Bizzarri, Veronica oth Bucci, Elisabetta oth Morino, Stefania oth Talerico, Caterina oth Stoppacciaro, Antonella oth Renieri, Alessandra oth Antonini, Giovanni oth Enthalten in Elsevier Science Guo, Haoyu ELSEVIER Sperm competition in golden cuttlefish 2020 official journal of the World Muscle Society Amsterdam [u.a.] (DE-627)ELV004843940 volume:25 year:2015 number:11 pages:869-872 extent:4 https://doi.org/10.1016/j.nmd.2015.08.011 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 48.68 Aquakultur VZ AR 25 2015 11 869-872 4 045F 610 |
| spelling |
10.1016/j.nmd.2015.08.011 doi GBVA2015017000011.pica (DE-627)ELV018724841 (ELSEVIER)S0960-8966(15)00714-2 DE-627 ger DE-627 rakwb eng 610 610 DE-600 570 550 VZ BIODIV DE-30 fid 48.68 bkl Garibaldi, Matteo verfasserin aut Dropped-head in recessive oculopharyngeal muscular dystrophy 2015 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier • First case of dropped-head in recessive OPMD expanding clinical phenotype. • Eighth case of recessive OPMD worldwide reported and the first one in Italy. • Dropped-head could be an unusual presentation of recessive OPMD. • Later onset and phenotype variability seem to be more frequent in recessive OPMD. • Recessive OPMD could be underdiagnosed. Pennisi, Elena Maria oth Bruttini, Mirella oth Bizzarri, Veronica oth Bucci, Elisabetta oth Morino, Stefania oth Talerico, Caterina oth Stoppacciaro, Antonella oth Renieri, Alessandra oth Antonini, Giovanni oth Enthalten in Elsevier Science Guo, Haoyu ELSEVIER Sperm competition in golden cuttlefish 2020 official journal of the World Muscle Society Amsterdam [u.a.] (DE-627)ELV004843940 volume:25 year:2015 number:11 pages:869-872 extent:4 https://doi.org/10.1016/j.nmd.2015.08.011 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 48.68 Aquakultur VZ AR 25 2015 11 869-872 4 045F 610 |
| allfields_unstemmed |
10.1016/j.nmd.2015.08.011 doi GBVA2015017000011.pica (DE-627)ELV018724841 (ELSEVIER)S0960-8966(15)00714-2 DE-627 ger DE-627 rakwb eng 610 610 DE-600 570 550 VZ BIODIV DE-30 fid 48.68 bkl Garibaldi, Matteo verfasserin aut Dropped-head in recessive oculopharyngeal muscular dystrophy 2015 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier • First case of dropped-head in recessive OPMD expanding clinical phenotype. • Eighth case of recessive OPMD worldwide reported and the first one in Italy. • Dropped-head could be an unusual presentation of recessive OPMD. • Later onset and phenotype variability seem to be more frequent in recessive OPMD. • Recessive OPMD could be underdiagnosed. Pennisi, Elena Maria oth Bruttini, Mirella oth Bizzarri, Veronica oth Bucci, Elisabetta oth Morino, Stefania oth Talerico, Caterina oth Stoppacciaro, Antonella oth Renieri, Alessandra oth Antonini, Giovanni oth Enthalten in Elsevier Science Guo, Haoyu ELSEVIER Sperm competition in golden cuttlefish 2020 official journal of the World Muscle Society Amsterdam [u.a.] (DE-627)ELV004843940 volume:25 year:2015 number:11 pages:869-872 extent:4 https://doi.org/10.1016/j.nmd.2015.08.011 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 48.68 Aquakultur VZ AR 25 2015 11 869-872 4 045F 610 |
| allfieldsGer |
10.1016/j.nmd.2015.08.011 doi GBVA2015017000011.pica (DE-627)ELV018724841 (ELSEVIER)S0960-8966(15)00714-2 DE-627 ger DE-627 rakwb eng 610 610 DE-600 570 550 VZ BIODIV DE-30 fid 48.68 bkl Garibaldi, Matteo verfasserin aut Dropped-head in recessive oculopharyngeal muscular dystrophy 2015 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier • First case of dropped-head in recessive OPMD expanding clinical phenotype. • Eighth case of recessive OPMD worldwide reported and the first one in Italy. • Dropped-head could be an unusual presentation of recessive OPMD. • Later onset and phenotype variability seem to be more frequent in recessive OPMD. • Recessive OPMD could be underdiagnosed. Pennisi, Elena Maria oth Bruttini, Mirella oth Bizzarri, Veronica oth Bucci, Elisabetta oth Morino, Stefania oth Talerico, Caterina oth Stoppacciaro, Antonella oth Renieri, Alessandra oth Antonini, Giovanni oth Enthalten in Elsevier Science Guo, Haoyu ELSEVIER Sperm competition in golden cuttlefish 2020 official journal of the World Muscle Society Amsterdam [u.a.] (DE-627)ELV004843940 volume:25 year:2015 number:11 pages:869-872 extent:4 https://doi.org/10.1016/j.nmd.2015.08.011 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 48.68 Aquakultur VZ AR 25 2015 11 869-872 4 045F 610 |
| allfieldsSound |
10.1016/j.nmd.2015.08.011 doi GBVA2015017000011.pica (DE-627)ELV018724841 (ELSEVIER)S0960-8966(15)00714-2 DE-627 ger DE-627 rakwb eng 610 610 DE-600 570 550 VZ BIODIV DE-30 fid 48.68 bkl Garibaldi, Matteo verfasserin aut Dropped-head in recessive oculopharyngeal muscular dystrophy 2015 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier • First case of dropped-head in recessive OPMD expanding clinical phenotype. • Eighth case of recessive OPMD worldwide reported and the first one in Italy. • Dropped-head could be an unusual presentation of recessive OPMD. • Later onset and phenotype variability seem to be more frequent in recessive OPMD. • Recessive OPMD could be underdiagnosed. Pennisi, Elena Maria oth Bruttini, Mirella oth Bizzarri, Veronica oth Bucci, Elisabetta oth Morino, Stefania oth Talerico, Caterina oth Stoppacciaro, Antonella oth Renieri, Alessandra oth Antonini, Giovanni oth Enthalten in Elsevier Science Guo, Haoyu ELSEVIER Sperm competition in golden cuttlefish 2020 official journal of the World Muscle Society Amsterdam [u.a.] (DE-627)ELV004843940 volume:25 year:2015 number:11 pages:869-872 extent:4 https://doi.org/10.1016/j.nmd.2015.08.011 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 48.68 Aquakultur VZ AR 25 2015 11 869-872 4 045F 610 |
| language |
English |
| source |
Enthalten in Sperm competition in golden cuttlefish Amsterdam [u.a.] volume:25 year:2015 number:11 pages:869-872 extent:4 |
| sourceStr |
Enthalten in Sperm competition in golden cuttlefish Amsterdam [u.a.] volume:25 year:2015 number:11 pages:869-872 extent:4 |
| format_phy_str_mv |
Article |
| bklname |
Aquakultur |
| institution |
findex.gbv.de |
| dewey-raw |
610 |
| isfreeaccess_bool |
false |
| container_title |
Sperm competition in golden cuttlefish |
| authorswithroles_txt_mv |
Garibaldi, Matteo @@aut@@ Pennisi, Elena Maria @@oth@@ Bruttini, Mirella @@oth@@ Bizzarri, Veronica @@oth@@ Bucci, Elisabetta @@oth@@ Morino, Stefania @@oth@@ Talerico, Caterina @@oth@@ Stoppacciaro, Antonella @@oth@@ Renieri, Alessandra @@oth@@ Antonini, Giovanni @@oth@@ |
| publishDateDaySort_date |
2015-01-01T00:00:00Z |
| hierarchy_top_id |
ELV004843940 |
| dewey-sort |
3610 |
| id |
ELV018724841 |
| 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">ELV018724841</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230623144355.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">180602s2015 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/j.nmd.2015.08.011</subfield><subfield code="2">doi</subfield></datafield><datafield tag="028" ind1="5" ind2="2"><subfield code="a">GBVA2015017000011.pica</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV018724841</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S0960-8966(15)00714-2</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">570</subfield><subfield code="a">550</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">BIODIV</subfield><subfield code="q">DE-30</subfield><subfield code="2">fid</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">48.68</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Garibaldi, Matteo</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Dropped-head in recessive oculopharyngeal muscular dystrophy</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2015</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">4</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">• First case of dropped-head in recessive OPMD expanding clinical phenotype. • Eighth case of recessive OPMD worldwide reported and the first one in Italy. • Dropped-head could be an unusual presentation of recessive OPMD. • Later onset and phenotype variability seem to be more frequent in recessive OPMD. • Recessive OPMD could be underdiagnosed.</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Pennisi, Elena Maria</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Bruttini, Mirella</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Bizzarri, Veronica</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Bucci, Elisabetta</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Morino, Stefania</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Talerico, Caterina</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Stoppacciaro, Antonella</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Renieri, Alessandra</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Antonini, Giovanni</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">Guo, Haoyu ELSEVIER</subfield><subfield code="t">Sperm competition in golden cuttlefish</subfield><subfield code="d">2020</subfield><subfield code="d">official journal of the World Muscle Society</subfield><subfield code="g">Amsterdam [u.a.]</subfield><subfield code="w">(DE-627)ELV004843940</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:25</subfield><subfield code="g">year:2015</subfield><subfield code="g">number:11</subfield><subfield code="g">pages:869-872</subfield><subfield code="g">extent:4</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1016/j.nmd.2015.08.011</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">FID-BIODIV</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">48.68</subfield><subfield code="j">Aquakultur</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">25</subfield><subfield code="j">2015</subfield><subfield code="e">11</subfield><subfield code="h">869-872</subfield><subfield code="g">4</subfield></datafield><datafield tag="953" ind1=" " ind2=" "><subfield code="2">045F</subfield><subfield code="a">610</subfield></datafield></record></collection>
|
| author |
Garibaldi, Matteo |
| spellingShingle |
Garibaldi, Matteo ddc 610 ddc 570 fid BIODIV bkl 48.68 Dropped-head in recessive oculopharyngeal muscular dystrophy |
| authorStr |
Garibaldi, Matteo |
| ppnlink_with_tag_str_mv |
@@773@@(DE-627)ELV004843940 |
| format |
electronic Article |
| dewey-ones |
610 - Medicine & health 570 - Life sciences; biology 550 - Earth sciences |
| delete_txt_mv |
keep |
| author_role |
aut |
| collection |
elsevier |
| remote_str |
true |
| illustrated |
Not Illustrated |
| topic_title |
610 610 DE-600 570 550 VZ BIODIV DE-30 fid 48.68 bkl Dropped-head in recessive oculopharyngeal muscular dystrophy |
| topic |
ddc 610 ddc 570 fid BIODIV bkl 48.68 |
| topic_unstemmed |
ddc 610 ddc 570 fid BIODIV bkl 48.68 |
| topic_browse |
ddc 610 ddc 570 fid BIODIV bkl 48.68 |
| format_facet |
Elektronische Aufsätze Aufsätze Elektronische Ressource |
| format_main_str_mv |
Text Zeitschrift/Artikel |
| carriertype_str_mv |
zu |
| author2_variant |
e m p em emp m b mb v b vb e b eb s m sm c t ct a s as a r ar g a ga |
| hierarchy_parent_title |
Sperm competition in golden cuttlefish |
| hierarchy_parent_id |
ELV004843940 |
| dewey-tens |
610 - Medicine & health 570 - Life sciences; biology 550 - Earth sciences & geology |
| hierarchy_top_title |
Sperm competition in golden cuttlefish |
| isfreeaccess_txt |
false |
| familylinks_str_mv |
(DE-627)ELV004843940 |
| title |
Dropped-head in recessive oculopharyngeal muscular dystrophy |
| ctrlnum |
(DE-627)ELV018724841 (ELSEVIER)S0960-8966(15)00714-2 |
| title_full |
Dropped-head in recessive oculopharyngeal muscular dystrophy |
| author_sort |
Garibaldi, Matteo |
| journal |
Sperm competition in golden cuttlefish |
| journalStr |
Sperm competition in golden cuttlefish |
| lang_code |
eng |
| isOA_bool |
false |
| dewey-hundreds |
600 - Technology 500 - Science |
| recordtype |
marc |
| publishDateSort |
2015 |
| contenttype_str_mv |
zzz |
| container_start_page |
869 |
| author_browse |
Garibaldi, Matteo |
| container_volume |
25 |
| physical |
4 |
| class |
610 610 DE-600 570 550 VZ BIODIV DE-30 fid 48.68 bkl |
| format_se |
Elektronische Aufsätze |
| author-letter |
Garibaldi, Matteo |
| doi_str_mv |
10.1016/j.nmd.2015.08.011 |
| dewey-full |
610 570 550 |
| title_sort |
dropped-head in recessive oculopharyngeal muscular dystrophy |
| title_auth |
Dropped-head in recessive oculopharyngeal muscular dystrophy |
| abstract |
• First case of dropped-head in recessive OPMD expanding clinical phenotype. • Eighth case of recessive OPMD worldwide reported and the first one in Italy. • Dropped-head could be an unusual presentation of recessive OPMD. • Later onset and phenotype variability seem to be more frequent in recessive OPMD. • Recessive OPMD could be underdiagnosed. |
| abstractGer |
• First case of dropped-head in recessive OPMD expanding clinical phenotype. • Eighth case of recessive OPMD worldwide reported and the first one in Italy. • Dropped-head could be an unusual presentation of recessive OPMD. • Later onset and phenotype variability seem to be more frequent in recessive OPMD. • Recessive OPMD could be underdiagnosed. |
| abstract_unstemmed |
• First case of dropped-head in recessive OPMD expanding clinical phenotype. • Eighth case of recessive OPMD worldwide reported and the first one in Italy. • Dropped-head could be an unusual presentation of recessive OPMD. • Later onset and phenotype variability seem to be more frequent in recessive OPMD. • Recessive OPMD could be underdiagnosed. |
| collection_details |
GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA |
| container_issue |
11 |
| title_short |
Dropped-head in recessive oculopharyngeal muscular dystrophy |
| url |
https://doi.org/10.1016/j.nmd.2015.08.011 |
| remote_bool |
true |
| author2 |
Pennisi, Elena Maria Bruttini, Mirella Bizzarri, Veronica Bucci, Elisabetta Morino, Stefania Talerico, Caterina Stoppacciaro, Antonella Renieri, Alessandra Antonini, Giovanni |
| author2Str |
Pennisi, Elena Maria Bruttini, Mirella Bizzarri, Veronica Bucci, Elisabetta Morino, Stefania Talerico, Caterina Stoppacciaro, Antonella Renieri, Alessandra Antonini, Giovanni |
| ppnlink |
ELV004843940 |
| mediatype_str_mv |
z |
| isOA_txt |
false |
| hochschulschrift_bool |
false |
| author2_role |
oth oth oth oth oth oth oth oth oth |
| doi_str |
10.1016/j.nmd.2015.08.011 |
| up_date |
2024-07-06T19:33:02.977Z |
| _version_ |
1803859402926587904 |
| 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">ELV018724841</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230623144355.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">180602s2015 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/j.nmd.2015.08.011</subfield><subfield code="2">doi</subfield></datafield><datafield tag="028" ind1="5" ind2="2"><subfield code="a">GBVA2015017000011.pica</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV018724841</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S0960-8966(15)00714-2</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">570</subfield><subfield code="a">550</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">BIODIV</subfield><subfield code="q">DE-30</subfield><subfield code="2">fid</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">48.68</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Garibaldi, Matteo</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Dropped-head in recessive oculopharyngeal muscular dystrophy</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2015</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">4</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">• First case of dropped-head in recessive OPMD expanding clinical phenotype. • Eighth case of recessive OPMD worldwide reported and the first one in Italy. • Dropped-head could be an unusual presentation of recessive OPMD. • Later onset and phenotype variability seem to be more frequent in recessive OPMD. • Recessive OPMD could be underdiagnosed.</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Pennisi, Elena Maria</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Bruttini, Mirella</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Bizzarri, Veronica</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Bucci, Elisabetta</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Morino, Stefania</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Talerico, Caterina</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Stoppacciaro, Antonella</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Renieri, Alessandra</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Antonini, Giovanni</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">Guo, Haoyu ELSEVIER</subfield><subfield code="t">Sperm competition in golden cuttlefish</subfield><subfield code="d">2020</subfield><subfield code="d">official journal of the World Muscle Society</subfield><subfield code="g">Amsterdam [u.a.]</subfield><subfield code="w">(DE-627)ELV004843940</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:25</subfield><subfield code="g">year:2015</subfield><subfield code="g">number:11</subfield><subfield code="g">pages:869-872</subfield><subfield code="g">extent:4</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1016/j.nmd.2015.08.011</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">FID-BIODIV</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">48.68</subfield><subfield code="j">Aquakultur</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">25</subfield><subfield code="j">2015</subfield><subfield code="e">11</subfield><subfield code="h">869-872</subfield><subfield code="g">4</subfield></datafield><datafield tag="953" ind1=" " ind2=" "><subfield code="2">045F</subfield><subfield code="a">610</subfield></datafield></record></collection>
|
| score |
7.4010153 |