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Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland

Tscherter, Anne ; Rüsch, Christina T. ; Baumann, Dominique ; [et al.]

Elsevier BV ; 2022

In: Neuromuscular Disorders Vol. 32, No. 5 ( 2022-05), p. 399-409

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In: Neuromuscular Disorders, Elsevier BV, Vol. 32, No. 5 ( 2022-05), p. 399-409

Type of Medium: Online Resource

ISSN: 0960-8966

URL: Article

DOI: 10.1016/j.nmd.2022.02.001

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2022

detail.hit.zdb_id: 2008287-3

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Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Moss, Davina J Hensman ; Pardiñas, Antonio F ; Langbehn, Douglas ; [et al.]

Elsevier BV ; 2017

In: The Lancet Neurology Vol. 16, No. 9 ( 2017-09), p. 701-711

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In: The Lancet Neurology, Elsevier BV, Vol. 16, No. 9 ( 2017-09), p. 701-711

Type of Medium: Online Resource

ISSN: 1474-4422

URL: Article

DOI: 10.1016/S1474-4422(17)30161-8

Language: English

Publisher: Elsevier BV

Publication Date: 2017

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The histology of brain tumors for 67 331 children and 671 085 adults diagnosed in 60 countries during 2000-2014: a global, population-based study (CONCORD-3)

Girardi, Fabio ; Rous, Brian ; Stiller, Charles A ; [et al.]

Oxford University Press (OUP) ; 2021

In: Neuro-Oncology Vol. 23, No. 10 ( 2021-10-01), p. 1765-1776

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In: Neuro-Oncology, Oxford University Press (OUP), Vol. 23, No. 10 ( 2021-10-01), p. 1765-1776

Abstract: Global variations in survival for brain tumors are very wide when all histological types are considered together. Appraisal of international differences should be informed by the distribution of histology, but little is known beyond Europe and North America. Methods The source for the analysis was the CONCORD database, a program of global surveillance of cancer survival trends, which includes the tumor records of individual patients from more than 300 population-based cancer registries. We considered all patients aged 0-99 years who were diagnosed with a primary brain tumor during 2000-2014, whether malignant or nonmalignant. We presented the histology distribution of these tumors, for patients diagnosed during 2000-2004, 2005-2009, and 2010-2014. Results Records were submitted from 60 countries on 5 continents, 67 331 for children and 671 085 for adults. After exclusion of irrelevant morphology codes, the final study population comprised 60 783 children and 602 112 adults. Only 59 of 60 countries covered in CONCORD-3 were included because none of the Mexican records were eligible. We defined 12 histology groups for children, and 11 for adults. In children (0-14 years), the proportion of low-grade astrocytomas ranged between 6% and 50%. Medulloblastoma was the most common subtype in countries where low-grade astrocytoma was less commonly reported. In adults (15-99 years), the proportion of glioblastomas varied between 9% and 69%. International comparisons were made difficult by wide differences in the proportion of tumors with unspecified histology, which accounted for up to 52% of diagnoses in children and up to 65% in adults. Conclusions To our knowledge, this is the first account of the global histology distribution of brain tumors, in children and adults. Our findings provide insights into the practices and the quality of cancer registration worldwide.

Type of Medium: Online Resource

ISSN: 1522-8517 , 1523-5866

URL: Article

DOI: 10.1093/neuonc/noab067

Language: English

Publisher: Oxford University Press (OUP)

Publication Date: 2021

detail.hit.zdb_id: 2094060-9

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Begutachtungsleitlinien Versicherungsmedizin

Gantenbein, Andreas R. ; Koch, Marc Oliver ; Mhl, Andreas ; [et al.]

EMH Swiss Medical Publishers, Ltd. ; 2021

In: Swiss Medical Forum ‒ Schweizerisches Medizin-Forum

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In: Swiss Medical Forum ‒ Schweizerisches Medizin-Forum, EMH Swiss Medical Publishers, Ltd.

Type of Medium: Online Resource

ISSN: 1424-4020

URL: Article

DOI: 10.4414/smf.2021.08768

Language: German

Publisher: EMH Swiss Medical Publishers, Ltd.

Publication Date: 2021

detail.hit.zdb_id: 2059452-5

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Lignes directrices pour l’expertise en médecine d’assurance

Gantenbein, Andreas R. ; Koch, Marc Oliver ; Mhl, Andreas ; [et al.]

EMH Swiss Medical Publishers, Ltd. ; 2021

In: Forum Médical Suisse ‒ Swiss Medical Forum

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In: Forum Médical Suisse ‒ Swiss Medical Forum, EMH Swiss Medical Publishers, Ltd.

Type of Medium: Online Resource

ISSN: 1661-6146

URL: Article

DOI: 10.4414/fms.2021.08768

Language: French

Publisher: EMH Swiss Medical Publishers, Ltd.

Publication Date: 2021

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Erythrocyte membrane changes of chorea-acanthocytosis are the result of altered Lyn kinase activity

De Franceschi, Lucia ; Tomelleri, Carlo ; Matte, Alessandro ; [et al.]

American Society of Hematology ; 2011

In: Blood Vol. 118, No. 20 ( 2011-11-17), p. 5652-5663

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In: Blood, American Society of Hematology, Vol. 118, No. 20 ( 2011-11-17), p. 5652-5663

Abstract: Acanthocytic RBCs are a peculiar diagnostic feature of chorea-acanthocytosis (ChAc), a rare autosomal recessive neurodegenerative disorder. Although recent years have witnessed some progress in the molecular characterization of ChAc, the mechanism(s) responsible for generation of acanthocytes in ChAc is largely unknown. As the membrane protein composition of ChAc RBCs is similar to that of normal RBCs, we evaluated the tyrosine (Tyr)–phosphorylation profile of RBCs using comparative proteomics. Increased Tyr phosphorylation state of several membrane proteins, including band 3, β-spectrin, and adducin, was noted in ChAc RBCs. In particular, band 3 was highly phosphorylated on the Tyr-904 residue, a functional target of Lyn, but not on Tyr-8, a functional target of Syk. In ChAc RBCs, band 3 Tyr phosphorylation by Lyn was independent of the canonical Syk-mediated pathway. The ChAc-associated alterations in RBC membrane protein organization appear to be the result of increased Tyr phosphorylation leading to altered linkage of band 3 to the junctional complexes involved in anchoring the membrane to the cytoskeleton as supported by coimmunoprecipitation of β-adducin with band 3 only in ChAc RBC-membrane treated with the Lyn-inhibitor PP2. We propose this altered association between membrane skeleton and membrane proteins as novel mechanism in the generation of acanthocytes in ChAc.

Type of Medium: Online Resource

ISSN: 0006-4971 , 1528-0020

URL: Article

DOI: 10.1182/blood-2011-05-355339

RVK:

XA 33000

RVK:

XA 10000

Language: English

Publisher: American Society of Hematology

Publication Date: 2011

detail.hit.zdb_id: 1468538-3

detail.hit.zdb_id: 80069-7

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Life expectancy and mortality in chorea-acanthocytosis and McLeod syndrome

Walker, Ruth H. ; Miranda, Marcelo ; Jung, Hans H. ; [et al.]

Elsevier BV ; 2019

In: Parkinsonism & Related Disorders Vol. 60 ( 2019-03), p. 158-161

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In: Parkinsonism & Related Disorders, Elsevier BV, Vol. 60 ( 2019-03), p. 158-161

Type of Medium: Online Resource

ISSN: 1353-8020

URL: Article

DOI: 10.1016/j.parkreldis.2018.09.003

Language: English

Publisher: Elsevier BV

Publication Date: 2019

detail.hit.zdb_id: 2027635-7

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Computational Identification of Phospho-Tyrosine Sub-Networks Related to Acanthocyte Generation in Neuroacanthocytosis

De Franceschi, Lucia ; Scardoni, Giovanni ; Tomelleri, Carlo ; [et al.]

Public Library of Science (PLoS) ; 2012

In: PLoS ONE Vol. 7, No. 2 ( 2012-2-15), p. e31015-

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In: PLoS ONE, Public Library of Science (PLoS), Vol. 7, No. 2 ( 2012-2-15), p. e31015-

Type of Medium: Online Resource

ISSN: 1932-6203

URL: Article

DOI: 10.1371/journal.pone.0031015

DOI: 10.1371/journal.pone.0031015.g001

DOI: 10.1371/journal.pone.0031015.g002

DOI: 10.1371/journal.pone.0031015.g003

DOI: 10.1371/journal.pone.0031015.g004

DOI: 10.1371/journal.pone.0031015.g005

DOI: 10.1371/journal.pone.0031015.t001

DOI: 10.1371/journal.pone.0031015.t002

DOI: 10.1371/journal.pone.0031015.s001

DOI: 10.1371/journal.pone.0031015.s002

DOI: 10.1371/journal.pone.0031015.s003

DOI: 10.1371/journal.pone.0031015.s004

DOI: 10.1371/journal.pone.0031015.s005

DOI: 10.1371/journal.pone.0031015.s006

DOI: 10.1371/journal.pone.0031015.s007

DOI: 10.1371/journal.pone.0031015.s008

DOI: 10.1371/journal.pone.0031015.s009

DOI: 10.1371/journal.pone.0031015.s010

DOI: 10.1371/journal.pone.0031015.s011

DOI: 10.1371/journal.pone.0031015.s012

DOI: 10.1371/journal.pone.0031015.s013

DOI: 10.1371/journal.pone.0031015.s014

DOI: 10.1371/journal.pone.0031015.s015

DOI: 10.1371/journal.pone.0031015.s016

DOI: 10.1371/journal.pone.0031015.s017

DOI: 10.1371/journal.pone.0031015.s018

DOI: 10.1371/journal.pone.0031015.s019

DOI: 10.1371/journal.pone.0031015.s020

DOI: 10.1371/journal.pone.0031015.s021

DOI: 10.1371/journal.pone.0031015.s022

DOI: 10.1371/journal.pone.0031015.s023

DOI: 10.1371/journal.pone.0031015.s024

DOI: 10.1371/journal.pone.0031015.s025

DOI: 10.1371/journal.pone.0031015.s026

DOI: 10.1371/journal.pone.0031015.s027

DOI: 10.1371/journal.pone.0031015.s028

DOI: 10.1371/journal.pone.0031015.s029

DOI: 10.1371/journal.pone.0031015.s030

DOI: 10.1371/journal.pone.0031015.s031

DOI: 10.1371/journal.pone.0031015.s032

DOI: 10.1371/journal.pone.0031015.s033

DOI: 10.1371/journal.pone.0031015.s034

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2012

detail.hit.zdb_id: 2267670-3

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The chorea of McLeod syndrome: Progression to hypokinesia

Miranda, Marcelo ; Jung, Hans H. ; Danek, Adrian ; [et al.]

Wiley ; 2012

In: Movement Disorders Vol. 27, No. 13 ( 2012-11), p. 1701-1702

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In: Movement Disorders, Wiley, Vol. 27, No. 13 ( 2012-11), p. 1701-1702

Type of Medium: Online Resource

ISSN: 0885-3185 , 1531-8257

URL: Issue

URL: Article

DOI: 10.1002/mds.v27.13

DOI: 10.1002/mds.25224

RVK:

XA 10000

Language: English

Publisher: Wiley

Publication Date: 2012

detail.hit.zdb_id: 2041249-6

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Second International Neuroacanthocytosis Symposium: Expanding the spectrum of choreatic syndromes: Montreal Neurological Hospital and Institute, April 17–19

Andermann, Eva ; Danek, Adrian ; Irvine, Glenn ; [et al.]

Wiley ; 2005

In: Movement Disorders Vol. 20, No. 12 ( 2005-12), p. 1673-1694

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In: Movement Disorders, Wiley, Vol. 20, No. 12 ( 2005-12), p. 1673-1694

Type of Medium: Online Resource

ISSN: 0885-3185 , 1531-8257

URL: Issue

URL: Article

DOI: 10.1002/mds.v20:12

DOI: 10.1002/mds.20721

RVK:

XA 10000

Language: English

Publisher: Wiley

Publication Date: 2005

detail.hit.zdb_id: 2041249-6

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