S. Biskup
发表
M. Daly,
P. May,
R. Krause,
2020,
Genome Medicine.
M. Daly,
P. May,
R. Krause,
2017,
bioRxiv.
R. Boellaard,
B. Gückel,
V. Goh,
2017,
Molecular Imaging and Biology.
E. Zrenner,
W. Berger,
M. Schubach,
2013,
European Journal of Human Genetics.
Saskia Biskup,
Thomas Gasser,
Andreas Kupsch,
2008,
Journal of Neurology.
Thomas Meitinger,
Bertram Müller-Myhsok,
Saskia Biskup,
2004,
Neuron.
S. Gallati,
H. Lerche,
M. Schubach,
2012,
Epilepsia.
Klaus Lehnert,
Holger Lerche,
Annapurna Poduri,
2018,
American journal of human genetics.
P. May,
R. Krause,
S. Haas,
2017,
Brain : a journal of neurology.
P. Striano,
H. Lerche,
F. Rosenow,
2016,
Neurology.
Maja Steinlin,
Markus Wolff,
Holger Lerche,
2015,
Nature Genetics.
G. Carvill,
I. Scheffer,
H. Mefford,
2015,
Neurology.
Markus Wolff,
Saskia Biskup,
M. Schwake,
2014,
Annals of neurology.
C. Blauwendraat,
I. Jansen,
P. Heutink,
2017,
Genetics in Medicine.
Thomas Meitinger,
Joanna Poulton,
Hans-Werner Mewes,
2010,
Nature Genetics.
D. Huson,
S. Bischoff,
A. Damms-Machado,
2013,
BMC Genomics.
T. Meitinger,
R. Krüger,
D. Berg,
2009,
neurogenetics.
I. Borggraefe,
F. Zimprich,
I. Milenkovic,
2020,
Journal of Clinical Neuroscience.
B. Wilhelm,
E. Zrenner,
T. Rosenberg,
2020,
JAMA ophthalmology.
L. Schöls,
E. Zrenner,
L. Kuehlewein,
2019,
Graefe's Archive for Clinical and Experimental Ophthalmology.
E. Zrenner,
S. Kohl,
B. Baumann,
2018,
Investigative ophthalmology & visual science.
W. Wurst,
T. Gasser,
K. Brockmann,
2019,
Scientific Reports.
M. Schwab,
S. Winter,
E. Schaeffeler,
2019,
Front. Genet..
M. Jucker,
T. Gasser,
Janaky Coomaraswamy,
2015,
PloS one.
L. Schöls,
C. Born,
M. Synofzik,
2014,
Neurobiology of Aging.
I. Borggraefe,
F. Zimprich,
C. Srichomthong,
2020,
Gene.
T. Wieland,
T. Strom,
D. Wieczorek,
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European Journal of Human Genetics.
B. Schoser,
J. Kirschke,
D. Karampinos,
2016,
Muscle & nerve.
V. Sossi,
O. Riess,
M. Walker,
2014,
Journal of Parkinson's disease.
B. Lorenz,
C. Friedburg,
D. Schranz,
2017,
American journal of medical genetics. Part A.
B. Lorenz,
C. Friedburg,
D. Schranz,
2017,
American journal of medical genetics. Part A.
R. Küppers,
M. Schubach,
M. Paulli,
2015,
BMC Cancer.
R. Pfundt,
D. Steinemann,
B. Menten,
2015,
Orphanet Journal of Rare Diseases.
E. Zrenner,
K. Stingl,
T. Haack,
2022,
Genes.
S. Biskup,
D. Moore,
2006,
BioEssays : news and reviews in molecular, cellular and developmental biology.
C. Garbe,
P. Martus,
A. Forschner,
2020,
Cancers.
S. Biskup,
J. Neidhardt,
G. Korenke,
2020,
Molecular Syndromology.
P. Kind,
J. Hentschel,
D. Mitter,
2018,
Brain : a journal of neurology.
C. Gerloff,
A. Münchau,
S. Zittel,
2013,
Movement disorders : official journal of the Movement Disorder Society.
A. Vanderver,
R. Schiffmann,
R. Carrozzo,
2021,
Genetics in Medicine.
G. Carvill,
N. Tommerup,
C. Depienne,
2015
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Y. Wada,
H. Omran,
K. Boycott,
2015,
American journal of human genetics.
T. Dawson,
V. Dawson,
A. West,
2007,
BMC Neuroscience.
T. Klockgether,
M. Sturm,
M. Synofzik,
2022,
Movement disorders : official journal of the Movement Disorder Society.
Y. Wada,
T. Marquardt,
B. Fiedler,
2015,
Journal of Inherited Metabolic Disease.
M. Dafotakis,
K. Reetz,
Yuliia V Nikonishyna,
2021,
Movement disorders : official journal of the Movement Disorder Society.
L. Bubendorf,
S. Duensing,
C. Ruiz,
2014,
Endocrine-related cancer.
M. Schubach,
C. Spaich,
D. Bartholdi,
2013,
European Journal of Human Genetics.
S. Züchner,
R. Schüle,
M. Synofzik,
2018,
Neurobiology of Aging.
M. Farrer,
T. Meitinger,
D. Dickson,
2008
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P. Emson,
T. Dawson,
V. Dawson,
2007,
Journal of neurochemistry.
P. Emson,
R. Faull,
T. Dawson,
2007,
Brain Research.
D. Berg,
T. Gasser,
M. Synofzik,
2016,
European journal of neurology.
P. Bauer,
L. Schöls,
I. Krägeloh-Mann,
2013,
Neurology.
C. Blauwendraat,
P. Heutink,
M. Synofzik,
2016,
Current Alzheimer research.
A. Słowik,
S. Biskup,
J. Pera,
2015,
Clinical Neurology and Neurosurgery.
D. Dressler,
C. Schrader,
Sebastian Loens,
2014,
Journal of Neurology.
T. Gasser,
C. Kamm,
G. Auburger,
2012,
Movement disorders : official journal of the Movement Disorder Society.
I. Namer,
M. Anheim,
G. Rudolf,
2014,
Journal of Neurology.
G. Deuschl,
G. Kuhlenbäumer,
C. Hagel,
2016,
Parkinsonism & related disorders.
E. Zrenner,
F. Cremers,
K. Stingl,
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International journal of molecular sciences.
P. Striano,
F. Zara,
P. Romanelli,
2014
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P. Striano,
F. Zara,
P. Romanelli,
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B. Steinhoff,
N. Tommerup,
H. Lerche,
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Annals of neurology.
D. Werring,
P. Striano,
S. Sisodiya,
2022
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S. Wortmann,
E. Boltshauser,
J. Altmüller,
2020,
Genetics in Medicine.
C. Beetz,
C. Hübner,
S. Biskup,
2018,
Human mutation.
M. Spielmann,
A. Zibat,
J. Altmüller,
2022,
Human mutation.
S. Biskup,
R. Rocha,
M. Leão,
2015,
Journal of child neurology.
L. Hood,
R. Balling,
F. Rüschendorf,
2015
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K. Jurkat-Rott,
T. Freilinger,
S. Biskup,
2018,
Cephalalgia : an international journal of headache.
M. Maurer,
S. Biskup,
Anja Kohler,
2022,
The application of clinical genetics.
P. Andersen,
A. Birve,
L. Schöls,
2012,
Human molecular genetics.
A. Ferbert,
W. Brück,
W. Kress,
2019,
Nervenheilkunde.
M. Maurer,
S. Biskup,
Anja Kohler,
2022
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L. Schöls,
M. Synofzik,
T. Haack,
2012,
Neurobiology of Aging.
M. Weller,
A. Valavanis,
J. Prudlo,
2016,
Swiss medical weekly.
U. Stephani,
H. Lerche,
J. Serratosa,
2013,
Nature Genetics.
C. Funke,
S. Biskup,
Caroline G Bergner,
2020,
Frontiers in Neuroscience.
Tzung-Chien Hsieh,
P. Krawitz,
Kai Wang,
2022,
European Journal of Human Genetics.
S. Biskup,
A. Pepler,
I. Danielsson,
2019,
Molecular Syndromology.
C. Funke,
K. Bhatia,
S. Zittel,
2019,
Parkinsonism & related disorders.
T. Klockgether,
E. Hattingen,
S. Paus,
2017,
Parkinsonism & related disorders.
C. Funke,
T. Haack,
H. Kitzler,
2017,
Tremor and other hyperkinetic movements.
U. Klose,
T. Nägele,
B. Bender,
2014,
Journal of Neurology.
T. Gasser,
P. Wieghofer,
S. Biskup,
2013,
Movement disorders : official journal of the Movement Disorder Society.
Anne K. Braczynski,
J. Steinbach,
L. Weise,
2015,
BMC Neurology.
A. Hartkopf,
S. Biskup,
A. Rabsteyn,
2022,
Vaccines.
P. Striano,
L. Bird,
D. Chitayat,
2022,
Brain : a journal of neurology.
L. Bubendorf,
S. Duensing,
C. Ruiz,
2014
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L. Schöls,
K. Bhatia,
A. Münchau,
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Parkinsonism & related disorders.
L. Zender,
K. Nikolaou,
G. Tabatabai,
2020,
JCO precision oncology.
M. Schubach,
C. Spaich,
M. Zenker,
2014,
European Journal of Human Genetics.
P. Nürnberg,
W. Zimmermann,
J. Altmüller,
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Frontiers in Cell and Developmental Biology.
A. Danek,
A. Giese,
H. Kretzschmar,
2014,
Clinical Neurology and Neurosurgery.
F. Heinen,
I. Borggraefe,
N. Blau,
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Journal of Neurology.
F. Ruschitzka,
A. Medeiros-Domingo,
A. Saguner,
2021,
Cardiology journal.
J. Kurtzberg,
N. Delanty,
C. Wolf,
2022,
American journal of medical genetics. Part A.
H. Klein,
L. Weber,
U. Heinrich,
2013,
Gene.
J. Weis,
J. Schulz,
S. Biskup,
2022,
Neurological Research and Practice.
T. Dawson,
V. Dawson,
S. Biskup,
2013,
Human molecular genetics.
C. Garbe,
A. Forschner,
S. Biskup,
2022,
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.
L. Schöls,
T. Gasser,
M. Synofzik,
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Front. Mol. Neurosci..
M. Blankenburg,
S. Biskup,
K. Marquard,
2013
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H. Lerche,
Y. Weber,
K. Helbig,
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Expert review of molecular diagnostics.
Ina Vogl,
Sebastian H. Eck,
Philipp A. Greif,
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L. Lagae,
P. Striano,
T. Loddenkemper,
2017,
Brain : a journal of neurology.
J. Roach,
P. May,
D. Galas,
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Nature Genetics.
S. Nahnsen,
J. Dufour,
E. D. De Toni,
2020,
Cancers.
C. Gerloff,
S. Zittel,
S. Biskup,
2020,
European journal of medical genetics.
P. Emson,
R. Faull,
O. Ottersen,
2006,
Annals of neurology.
FGFR3 overexpression is a useful detection tool for FGFR3 fusions and sequence variations in glioma.
A. Poso,
G. Tabatabai,
D. Capper,
2020,
Neuro-oncology practice.
A. Green,
K. Stingl,
J. Heckenlively,
2018,
Human mutation.
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy
Anna Skorczyk-Werner,
A. Wawrocka,
Katarzyna Wicher,
2018,
Molecular vision.
Adam P. DeLuca,
Matthew S. Lebo,
Janeen L Andorf,
2014,
Genome Biology.
Daniel Nilsson,
Peter Szolovits,
Karen Eilbeck,
2014,
Genome Biology.
H. Mefford,
Y. Marie,
S. Sisodiya,
2016,
Journal of Medical Genetics.
M. Daly,
H. Rehm,
Douglas R. Smith,
2019,
Genetics in Medicine.
Anup D. Patel,
Ethan M. Goldberg,
I. Scheffer,
2017,
Journal of Medical Genetics.
Borut Peterlin,
Sebastian Köhler,
Na Zhu,
2018,
Genetics in Medicine.
E. Zrenner,
K. Stingl,
L. Kuehlewein,
2020,
Human mutation.
Saskia Biskup,
Mario Deng,
Martin Braun,
2012,
International journal of molecular sciences.
F. Autschbach,
U. Martens,
M. Bischof,
2018,
JCO precision oncology.
Christian Ruiz,
Saskia Biskup,
Martin Braun,
2014,
International journal of cancer.
M. Rubin,
G. Kristiansen,
S. Perner,
2013,
The Journal of pathology.
T. Strom,
M. Dichgans,
G. Eckstein,
2005,
The Lancet.
J. Sass,
M. Fobker,
T. Marquardt,
2021,
Journal of inherited metabolic disease.
T. Marquardt,
B. Fiedler,
S. Biskup,
2021,
Child neurology open.
P. Huppke,
M. Schubach,
J. Gärtner,
2015,
Mitochondrion.
P. Gasparini,
A. d'Adamo,
S. Biskup,
2014,
American journal of medical genetics. Part A.
T. Nägele,
B. Bender,
R. Krüger,
2013,
Neurology.
K. Metzeler,
P. Greif,
H. Klein,
2013
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B. Bender,
P. Bauer,
R. Schüle,
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Orphanet Journal of Rare Diseases.
Diana Le Duc,
P. Bauer,
J. Hentschel,
2019,
bioRxiv.
R. Schlapbach,
L. Opitz,
P. Schraml,
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Small.
Chen-Ching Lin,
K. Platzer,
D. Lal,
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medRxiv.
D. Schadendorf,
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M. Eichner,
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Nature Communications.
D. Misceo,
L. de Meirleir,
J. Hentschel,
2016,
Neurology.
J. Rosenfeld,
I. Scheffer,
J. Gécz,
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Neurology.
M. Zenker,
C. Kratz,
J. Beygo,
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British Journal of Cancer.
C. Ross,
T. Dawson,
V. Dawson,
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Proceedings of the National Academy of Sciences of the United States of America.
W. Wurst,
T. Gasser,
K. Brockmann,
2019,
Scientific Reports.
H. Cai,
M. Cookson,
V. Baekelandt,
2013,
The Journal of Biological Chemistry.
Marcus Müller,
H. Löwenheim,
S. Biskup,
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Ear and hearing.
T. Hornemann,
A. von Eckardstein,
B. Dräger,
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NeuroMolecular Medicine.
O. Ganslandt,
S. Biskup,
F. Battke,
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BMC Cancer.
T. Gasser,
H. Hanagasi,
A. Hauser,
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Journal of Neurology.
M. Beal,
X. Li,
T. Dawson,
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The Journal of Neuroscience.
K. Lim,
X. Li,
T. Dawson,
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Human molecular genetics.
M. Nolan,
P. Andersen,
R. Heller,
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Brain communications.
T. Meitinger,
T. Illig,
D. Berg,
2005,
Annals of neurology.
Thomas Meitinger,
Giovanni Romeo,
Andres Metspalu,
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American journal of human genetics.
C. Garbe,
A. Forschner,
S. Biskup,
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OncoTargets and therapy.
C. Garbe,
Chung-Ting Han,
P. Martus,
2019,
Journal of Immunotherapy for Cancer.
I. Katona,
T. Hornemann,
B. Schlotter-Weigel,
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Journal of neurochemistry.
M. Daly,
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Genome Medicine.
E. van Binsbergen,
W. Dobyns,
N. Matsumoto,
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Brain : a journal of neurology.
S. Uhrig,
T. Bast,
P. Turnpenny,
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Annals of neurology.
W. Gahl,
L. Wolfe,
M. Muenke,
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The Journal of pediatrics.
J. Rosenfeld,
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Genetics in Medicine.
D. Werring,
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S. Sisodiya,
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Neurology.
W. Paulus,
N. Focke,
O. Puk,
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American journal of medical genetics. Part A.
S. Biskup,
H. Zelba,
N. Pieper,
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The Journal of Immunology.
E. Zrenner,
A. Kurtenbach,
F. Nasser,
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Acta ophthalmologica.
E. Buchner,
S. Buchner,
A. Sickmann,
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Journal of neurogenetics.
M. Heneka,
D. Kurzwelly,
S. Biskup,
2015,
Brain : a journal of neurology.
B. Wilhelm,
E. Zrenner,
M. Ueffing,
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Translational vision science & technology.
M. Menzel,
S. Biskup,
A. Pepler,
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Journal of Pediatric Neurology.
J. Rosenfeld,
J. Lupski,
D. Horn,
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Genetics in Medicine.
G. Di Giovanni,
A. Grottesi,
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Front. Physiol..
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U. Hedrich,
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Journal of Neurology.
L. Schöls,
M. Synofzik,
F. Lehmann-Horn,
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Journal of Medical Genetics.
F. Taran,
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Oncotarget.
M. Schubach,
K. Schilbach,
Katja Sonntag,
2018,
Journal of Translational Medicine.
M. Spraul,
S. Biskup,
N. Himmelreich,
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NMR in biomedicine.
H. Axer,
S. Biskup,
A. Grimm,
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Neurological Sciences.
M. Luedeke,
C. Mainetti,
S. Biskup,
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American Journal of Pediatrics.
E. Zrenner,
K. Stingl,
K. Nowomiejska,
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Acta ophthalmologica.
R. Küppers,
M. Schubach,
M. Paulli,
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BMC Cancer.
S. Biskup,
G. Visser,
J. Breur,
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JIMD reports.
L. Schöls,
M. Synofzik,
S. Biskup,
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Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.
A. Danek,
M. Dieterich,
A. Rominger,
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Neurobiology of Aging.
S. Ehl,
K. Warnatz,
R. Schroers,
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Frontiers in Immunology.
T. Kinoshita,
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American journal of medical genetics. Part A.
D. Berg,
J. Pomper,
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Journal of Neurology.
Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement
M. Vidailhet,
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J. Winkelmann,
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Movement disorders : official journal of the Movement Disorder Society.
T. Bast,
C. Schaaf,
T. Haack,
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Human mutation.
B. Neubauer,
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J. Neidhardt,
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Molecular Biology Reports.
F. Feuerhake,
M. Synofzik,
T. Haack,
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Neuropediatrics.
T. Gasser,
J. Schittenhelm,
David C. Schöndorf,
2014,
BMC Neurology.
K. Stingl,
V. Marino,
D. Dell’Orco,
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International journal of molecular sciences.
Y. Maruvka,
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Clinical genetics.
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npj Precision Oncology.
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Nature.
K. Claeys,
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Neurological Research and Practice.
S. Schneider,
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Molecular genetics & genomic medicine.
G. Rubboli,
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International journal of molecular sciences.
M. Schwab,
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The Pharmacogenomics Journal.
D. Horn,
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W. Stenzel,
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The Lancet Neurology.
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Journal for ImmunoTherapy of Cancer.
C. Funke,
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European journal of neurology.
C. Vollmar,
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Journal of Neurology.
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Movement disorders clinical practice.
B. Bender,
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Parkinsonism & related disorders.
M. Schubach,
D. Bartholdi,
D. Gadzicki,
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Clinical genetics.
M. Wüstemann,
S. Biskup,
E. Schwaibold,
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Prenatal diagnosis.
E. Imyanitov,
Marcus Müller,
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Human mutation.
M. Nöthen,
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Genetics in Medicine.
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Mitochondrion.
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Neuro-oncology advances.
H. Klein,
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Neuropediatrics.
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Biochimica et biophysica acta.
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Nature Communications.
William E. Byrd,
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Marni J. Falk,
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Brain : a journal of neurology.
I. Krägeloh-Mann,
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A. Bornemann,
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Journal of Inherited Metabolic Disease.
Stephan Martin,
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Journal of orthopaedics.
S. Biskup,
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European Journal of Human Genetics.
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Nature Communications.
M. Ueffing,
O. Riess,
M. Bonin,
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PloS one.
J. Zschocke,
A. Bohring,
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Biomolecules.
J. Ousingsawat,
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Journal of Medical Genetics.
J. Sahel,
E. Colin,
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Ophthalmic genetics.
T. Dörk,
C. Gallenmüller,
T. Klopstock,
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Journal of Neurology.
O. Ganslandt,
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BMC Cancer.
T. Hornemann,
A. von Eckardstein,
B. Dräger,
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NeuroMolecular Medicine.
J. Walkowiak,
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M. Badura-Stronka,
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Frontiers in Genetics.
C. Elger,
J. Wagner,
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Neurological Research and Practice.
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Brain : a journal of neurology.
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The American journal of psychiatry.
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