Das Deutsche Netzwerk für mitochondriale Erkrankungen (mitoNET)

B. Büchner; C. Gallenmüller; R. Lautenschläger; K. Kuhn; I. Wittig; L. Schöls; D. Rapaport; D. Seelow; P. Freisinger; H. Prokisch; W. Sperl; T. Wenz; C. Behl; M. Deschauer; C. Kornblum; P. Schneiderat; A. Abicht; M. Schuelke; T. Meitinger; T. Klopstock

doi:10.1007/s11825-012-0338-8

Das Deutsche Netzwerk für mitochondriale Erkrankungen (mitoNET)

Translated title of the contribution: The German network for mitochondrial disorders (mitoNET)

B. Büchner, C. Gallenmüller, R. Lautenschläger, K. Kuhn, I. Wittig, L. Schöls, D. Rapaport, D. Seelow, P. Freisinger, H. Prokisch, W. Sperl, T. Wenz, C. Behl, M. Deschauer, C. Kornblum, P. Schneiderat, A. Abicht, M. Schuelke, T. Meitinger, T. Klopstock

Medicine and Health

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

The principal goal of mitoNET is to establish a German interdisciplinary network of clinical and basic research centres in order to improve health care for patients with mitochondrial diseases. Eight neurological and thirteen pediatric clinical centres are part of the horizontal clinical network for recruitment and phenotyping of mitochondrial patients and collection of urgently needed data on the natural history of mitochondrial diseases. These clinical data are stored in a web-based registry that was created especially for this purpose. Within mitoNET two biobanks have been established for comprehensive collection and storage of biological material such as DNA, RNA, plasma as well as myoblasts and fibroblasts from diagnostic biopsies. Four subprojects are aimed at enhancing the range of diagnostic tools by developing new techniques and one subproject concentrates on in vitro and in vivo investigations of novel therapies. The German ministry of education and research (Bundesministerium für Bildung und Forschung) has funded mitoNET since February 2009.

Translated title of the contribution	The German network for mitochondrial disorders (mitoNET)
Original language	German
Pages (from-to)	193-199
Number of pages	7
Journal	Medizinische Genetik
Volume	24
Issue number	3
DOIs	https://doi.org/10.1007/s11825-012-0338-8
State	Published - Sep 2012

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Büchner, B., Gallenmüller, C., Lautenschläger, R., Kuhn, K., Wittig, I., Schöls, L., Rapaport, D., Seelow, D., Freisinger, P., Prokisch, H., Sperl, W., Wenz, T., Behl, C., Deschauer, M., Kornblum, C., Schneiderat, P., Abicht, A., Schuelke, M., Meitinger, T., & Klopstock, T. (2012). Das Deutsche Netzwerk für mitochondriale Erkrankungen (mitoNET). Medizinische Genetik, 24(3), 193-199. https://doi.org/10.1007/s11825-012-0338-8

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title = "Das Deutsche Netzwerk f{\"u}r mitochondriale Erkrankungen (mitoNET)",

abstract = "The principal goal of mitoNET is to establish a German interdisciplinary network of clinical and basic research centres in order to improve health care for patients with mitochondrial diseases. Eight neurological and thirteen pediatric clinical centres are part of the horizontal clinical network for recruitment and phenotyping of mitochondrial patients and collection of urgently needed data on the natural history of mitochondrial diseases. These clinical data are stored in a web-based registry that was created especially for this purpose. Within mitoNET two biobanks have been established for comprehensive collection and storage of biological material such as DNA, RNA, plasma as well as myoblasts and fibroblasts from diagnostic biopsies. Four subprojects are aimed at enhancing the range of diagnostic tools by developing new techniques and one subproject concentrates on in vitro and in vivo investigations of novel therapies. The German ministry of education and research (Bundesministerium f{\"u}r Bildung und Forschung) has funded mitoNET since February 2009.",

keywords = "Mitochondrial diseases, Molecular diagnostics, Pathophysiology, Registry, Therapy",

author = "B. B{\"u}chner and C. Gallenm{\"u}ller and R. Lautenschl{\"a}ger and K. Kuhn and I. Wittig and L. Sch{\"o}ls and D. Rapaport and D. Seelow and P. Freisinger and H. Prokisch and W. Sperl and T. Wenz and C. Behl and M. Deschauer and C. Kornblum and P. Schneiderat and A. Abicht and M. Schuelke and T. Meitinger and T. Klopstock",

note = "Funding Information: Das deutsche Netzwerk f{\"u}r mitochondria- le Erkrankungen mitoNET wird seit Feb- ruar 2009 vom Bundesministerium f{\"u}r Bil- dung und Forschung (BMBF) als eines von bundesweit 16 Netzwerken zu seltenen Er-krankungen gef{\"o}rdert. Kliniker mit beson-derer Expertise auf dem Gebiet der mito-chondrialen Erkrankungen sowie Grund-lagenwissenschaftler haben sich zu einem Verbund zusammengeschlossen mit dem gemeinsamen Ziel, eine Verbesserung der medizinischen Versorgung von Patienten mit mitochondrialen Erkrankungen zu er-reichen. Weitere Ziele in diesem Zusam-",

year = "2012",

month = sep,

doi = "10.1007/s11825-012-0338-8",

language = "Deutsch",

volume = "24",

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Büchner, B, Gallenmüller, C, Lautenschläger, R, Kuhn, K, Wittig, I, Schöls, L, Rapaport, D, Seelow, D, Freisinger, P, Prokisch, H, Sperl, W, Wenz, T, Behl, C, Deschauer, M, Kornblum, C, Schneiderat, P, Abicht, A, Schuelke, M, Meitinger, T & Klopstock, T 2012, 'Das Deutsche Netzwerk für mitochondriale Erkrankungen (mitoNET)', Medizinische Genetik, vol. 24, no. 3, pp. 193-199. https://doi.org/10.1007/s11825-012-0338-8

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T1 - Das Deutsche Netzwerk für mitochondriale Erkrankungen (mitoNET)

AU - Büchner, B.

AU - Gallenmüller, C.

AU - Lautenschläger, R.

AU - Kuhn, K.

AU - Wittig, I.

AU - Schöls, L.

AU - Rapaport, D.

AU - Seelow, D.

AU - Freisinger, P.

AU - Prokisch, H.

AU - Sperl, W.

AU - Wenz, T.

AU - Behl, C.

AU - Deschauer, M.

AU - Kornblum, C.

AU - Schneiderat, P.

AU - Abicht, A.

AU - Schuelke, M.

AU - Meitinger, T.

AU - Klopstock, T.

N1 - Funding Information: Das deutsche Netzwerk für mitochondria- le Erkrankungen mitoNET wird seit Feb- ruar 2009 vom Bundesministerium für Bil- dung und Forschung (BMBF) als eines von bundesweit 16 Netzwerken zu seltenen Er-krankungen gefördert. Kliniker mit beson-derer Expertise auf dem Gebiet der mito-chondrialen Erkrankungen sowie Grund-lagenwissenschaftler haben sich zu einem Verbund zusammengeschlossen mit dem gemeinsamen Ziel, eine Verbesserung der medizinischen Versorgung von Patienten mit mitochondrialen Erkrankungen zu er-reichen. Weitere Ziele in diesem Zusam-

PY - 2012/9

Y1 - 2012/9

N2 - The principal goal of mitoNET is to establish a German interdisciplinary network of clinical and basic research centres in order to improve health care for patients with mitochondrial diseases. Eight neurological and thirteen pediatric clinical centres are part of the horizontal clinical network for recruitment and phenotyping of mitochondrial patients and collection of urgently needed data on the natural history of mitochondrial diseases. These clinical data are stored in a web-based registry that was created especially for this purpose. Within mitoNET two biobanks have been established for comprehensive collection and storage of biological material such as DNA, RNA, plasma as well as myoblasts and fibroblasts from diagnostic biopsies. Four subprojects are aimed at enhancing the range of diagnostic tools by developing new techniques and one subproject concentrates on in vitro and in vivo investigations of novel therapies. The German ministry of education and research (Bundesministerium für Bildung und Forschung) has funded mitoNET since February 2009.

AB - The principal goal of mitoNET is to establish a German interdisciplinary network of clinical and basic research centres in order to improve health care for patients with mitochondrial diseases. Eight neurological and thirteen pediatric clinical centres are part of the horizontal clinical network for recruitment and phenotyping of mitochondrial patients and collection of urgently needed data on the natural history of mitochondrial diseases. These clinical data are stored in a web-based registry that was created especially for this purpose. Within mitoNET two biobanks have been established for comprehensive collection and storage of biological material such as DNA, RNA, plasma as well as myoblasts and fibroblasts from diagnostic biopsies. Four subprojects are aimed at enhancing the range of diagnostic tools by developing new techniques and one subproject concentrates on in vitro and in vivo investigations of novel therapies. The German ministry of education and research (Bundesministerium für Bildung und Forschung) has funded mitoNET since February 2009.

KW - Mitochondrial diseases

KW - Molecular diagnostics

KW - Pathophysiology

KW - Registry

KW - Therapy

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U2 - 10.1007/s11825-012-0338-8

DO - 10.1007/s11825-012-0338-8

M3 - Artikel

AN - SCOPUS:84868201091

SN - 0936-5931

VL - 24

SP - 193

EP - 199

JO - Medizinische Genetik

JF - Medizinische Genetik

IS - 3

ER -

Das Deutsche Netzwerk für mitochondriale Erkrankungen (mitoNET)

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