B. Plecko
发表
L. Grivell,
P. Vreken,
R. Wanders,
2000,
Biochemical and biophysical research communications.
B. Plecko,
L. Crowther,
D. Mathis,
2019,
Journal of inherited metabolic disease.
T. Wieland,
T. Meitinger,
T. Strom,
2014,
Molecular genetics and metabolism.
E. Moser,
F. Ebner,
D. Prayer,
2003,
Neuropediatrics.
M. Ensslen,
K. Rostásy,
I. Borggraefe,
2017,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
K. Claeys,
B. Ceulemans,
M. Sereda,
2007,
Archives of neurology.
Berten Ceulemans,
Salmo Raskin,
Jurgen Del-Favero,
2003,
Human mutation.
P. Striano,
N. Longo,
C. V. van Karnebeek,
2020,
Journal of inherited metabolic disease.
M. Blankenburg,
S. Rudnik-Schöneborn,
B. Schoser,
2021,
Children.
W. Chung,
K. Devriendt,
Alison M. Male,
2020,
Genetics in Medicine.
U. Ramaswami,
B. Plecko,
C. Caillaud,
2009,
Human mutation.
B. Plecko,
J. Häberle,
J. Nuoffer,
2016,
JIMD reports.
D. Horn,
S. Uhrig,
B. Tüysüz,
2007,
Clinical genetics.
W. Schmidt,
B. Plecko,
M. Lee-Kirsch,
2017,
Pediatric Rheumatology.
M. Hersberger,
B. Plecko,
D. Mathis,
2020,
Journal of inherited metabolic disease.
O. Dulac,
B. Plecko,
N. Wolf,
2014,
The Lancet Neurology.
H. Ropers,
H. Christen,
A. Grüters,
2014,
Journal of Medical Genetics.
E. Bertini,
A. Vanderver,
Q. Waisfisz,
2017,
Neurology.
B. Plecko,
P. Kotanko,
G. Rechberger,
2005,
Rapid communications in mass spectrometry : RCM.
B. Plecko,
M. Huemer,
W. Sperl,
2005,
Archives of Disease in Childhood - Fetal and Neonatal Edition.
A. Vanderver,
R. Schiffmann,
D. Timmann,
2020,
The Journal of clinical endocrinology and metabolism.
J. H. van der Lee,
J. Collet,
C. V. van Karnebeek,
2012,
Molecular genetics and metabolism.
M. Baumgartner,
E. Mayatepek,
I. Knerr,
2009,
Journal of Inherited Metabolic Disease.
M. Baumgartner,
E. Mayatepek,
I. Knerr,
2009,
Journal of Inherited Metabolic Disease.
H. Köfeler,
M. Trötzmüller,
J. Hartler,
2020,
Metabolites.
D. Sperl,
B. Plecko,
C. Urban,
2014,
Pediatric hematology and oncology.
A. Palla,
B. Plecko,
P. Burda,
2014,
Orphanet Journal of Rare Diseases.
P. Waters,
B. Plecko,
S. Stockler-Ipsiroglu,
2009,
Annals of neurology.
T. Wieland,
T. Meitinger,
T. Strom,
2012,
Journal of Medical Genetics.
E. Moser,
V. Mlynárik,
S. Gruber,
2002,
Pediatric Research.
B. Plecko,
J. Zschocke,
D. Karall,
2013,
Journal of Inherited Metabolic Disease.
B. Plecko,
S. Stöckler,
2009,
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques.
B. Plecko,
D. Mathis,
N. Parameswaran,
2018,
Neuropediatrics.
H. Mefford,
S. Gospe,
P. Clayton,
2015,
Neurology.
M. Baumgartner,
B. Plecko,
C. Jakobs,
2005,
Neuropediatrics.
B. Plecko,
S. Stöckler‐Ipsiroglu,
C. Jakobs,
2000,
Annals of neurology.
A. von Moers,
B. Plecko,
G. Bernert,
2019,
Journal of neuromuscular diseases.
S. Papuc,
H. Sticht,
A. Rauch,
2014,
Neuropediatrics.
T. Degrauw,
J. Christodoulou,
Y. Matsubara,
2006,
Human mutation.
A. Poretti,
E. Boltshauser,
B. Plecko,
2007,
Neuropediatrics.
E. Sorantin,
K. Pfurtscheller,
B. Plecko,
2009
.
K. Klavins,
B. Plecko,
B. Jilma,
2020,
Journal of inherited metabolic disease.
C. Stuessi,
S. Engberg,
F. Sennhauser,
2018,
BMC Pediatrics.
S. Wortmann,
B. Plecko,
D. Karall,
2020,
Diagnostics.
T. Mayer,
P. Ryvlin,
C. Baumgartner,
2016,
Epilepsia.
A. Blaschek,
J. Denecke,
B. Plecko,
2021,
The Lancet. Child & adolescent health.
M. Baumgartner,
M. Hochuli,
M. Gautschi,
2020,
Journal of inherited metabolic disease.
B. Schlotter-Weigel,
M. Blankenburg,
P. Huppke,
2022,
Orphanet Journal of Rare Diseases.
P. Vreken,
F. Baas,
R. Wanders,
2007
.
G. Giovannoni,
C. Mache,
B. Plecko,
2006,
Journal of Neurology Neurosurgery & Psychiatry.
S. Marie,
W. Robberecht,
B. Engelen,
2012,
Human mutation.
M. Baumgartner,
M. Hochuli,
R. Lachmann,
2013,
Journal of Inherited Metabolic Disease.
L. Kappos,
Y. Naegelin,
H. Köfeler,
2022,
Metabolites.
B. Plecko,
C. Jakobs,
H. Hartmann,
2011,
Developmental medicine and child neurology.
B. Plecko,
W. Erwa,
B. Wermuth,
1998,
European Journal of Pediatrics.
B. Plecko,
T. Lerman-Sagie,
P. Dragoumi,
2021,
European journal of paediatric neurology.
F. Lindbichler,
C. Mache,
B. Plecko,
2009,
Molecular genetics and metabolism.
Robert W. Taylor,
N. Kaya,
B. Plecko,
2018,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
M. Baumgartner,
H. Omran,
B. Weschke,
2006,
Nature Medicine.
M. Baumgartner,
T. Suormala,
S. Lorenzl,
2015,
Journal of Inherited Metabolic Disease.
T. Suormala,
E. R. Baumgartner,
B. Plecko,
2001,
European Journal of Pediatrics.
P. Clayton,
B. Plecko,
M. Connolly,
2014,
Neurology.
M. Baumgartner,
K. Mills,
C. Morel,
2014,
Brain : a journal of neurology.
C. V. van Karnebeek,
S. Gospe,
B. Plecko,
2014,
JIMD reports.
C. V. van Karnebeek,
S. Gospe,
P. Clayton,
2011,
Molecular genetics and metabolism.
B. Plecko,
J. Campistol,
2015,
Epileptic disorders : international epilepsy journal with videotape.
B. Plecko,
J. Campistol,
2015
.
B. Plecko,
Garry K. Brown,
2016
.
B. Plecko,
E. Struys,
2022,
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.
P. Clayton,
B. Plecko,
P. Mills,
2019,
Journal of inherited metabolic disease.
B. Plecko,
L. Crowther,
D. Mathis,
2022,
Journal of inherited metabolic disease.
B. Plecko,
2013,
Handbook of clinical neurology.
B. Plecko,
M. Freilinger,
T. Luecke,
2007,
Human mutation.
B. Plecko,
R. Steinfeld,
2017
.
B. Plecko,
J. Patsch,
M. Freilinger,
2021,
Hormone Research in Paediatrics.
B. Plecko,
C. Jakobs,
C. Jakobs,
2014
.
M. Hersberger,
S. Papuc,
A. Rauch,
2016,
Journal of Inherited Metabolic Disease.
Swiss national prospective surveillance of paediatric Mycoplasma pneumoniae-associated encephalitis.
D. Nadal,
B. Plecko,
A. Moeller,
2016,
Swiss medical weekly.
P. Kaplan,
R. Steiner,
R. Giugliani,
2008,
Molecular genetics and metabolism.
M. Speicher,
K. Girisha,
H. Shah,
2021,
Journal of Medical Genetics.
B. Plecko,
I. Scheer,
T. Güngör,
2013,
The Pediatric infectious disease journal.
G. Boylan,
B. Plecko,
C. Hagmann,
2019,
Neuropediatrics.
B. Plecko,
J. Häberle,
E. Schmidt,
2003,
Human mutation.
B. Plecko,
P. Kotanko,
G. Sunder-Plassmann,
2011,
American journal of kidney diseases : the official journal of the National Kidney Foundation.
M. Baumgartner,
T. Suormala,
P. Chinnery,
2016,
Journal of Inherited Metabolic Disease.
B. Plecko,
M. Spilioti,
A. Evangeliou,
2021,
JIMD reports.
K. Rostásy,
B. Plecko,
D. Karall,
2009,
Neuropediatrics.
K. Bötzel,
R. Jech,
B. Haslinger,
2020,
Annals of neurology.
A. Ekici,
D. Fitzpatrick,
C. Thiel,
2014,
Journal of Medical Genetics.
B. Plecko,
A. Vellodi,
H. Michelakakis,
2010,
Clinical genetics.
Anselm H. C. Horn,
Sharyn A. Lincoln,
A. Verloes,
2019,
Genetics in Medicine.
S. Papuc,
H. Sticht,
A. Rauch,
2018,
European Journal of Human Genetics.
F. Baas,
R. Wanders,
T. Kuijpers,
2004,
Blood.
P. Vreken,
F. Baas,
R. Wanders,
2002,
The Journal of pediatrics.
H. Köfeler,
B. Plecko,
M. Zandl-Lang,
2023,
International journal of molecular sciences.
B. Thöny,
B. Plecko,
I. Scheer,
2014,
Epileptic disorders.
Barbara Plecko,
B. Plecko,
L. Crowther,
2018,
Journal of Inherited Metabolic Disease.
T. Pieber,
W. Löscher,
J. Senderek,
2011,
Journal of Neurology.
G. Cooper,
S. Papuc,
J. Schreiber,
2019,
European Journal of Human Genetics.
B. Plecko,
G. Ginter,
H. Lackner,
1993,
European Journal of Pediatrics.
Silvano R. Gefferie,
R. Huber,
K. Rostásy,
2020,
NeuroImage.
A. Janecke,
B. Plecko,
R. Seidl,
2014,
European Journal of Pediatrics.
Heinrich Sticht,
Barbara Plecko,
Bernhard Schmitt,
2016,
Journal of Inherited Metabolic Disease.
Robert W. Taylor,
T. Meitinger,
S. Seneca,
2015,
Front. Genet..
S. Naidu,
G. Scheper,
C. Proud,
2003,
American journal of human genetics.
Zi-Fan Yu,
Maurizio Scarpa,
Paul Harmatz,
2010,
Journal of Inherited Metabolic Disease.
P. Kaplan,
R. Steiner,
R. Giugliani,
2010,
Journal of pediatric rehabilitation medicine.
P. Kaplan,
R. Steiner,
B. Plecko,
2004,
The Journal of pediatrics.
K. Pfurtscheller,
B. Plecko,
W. Muntean,
2009,
Hämostaseologie.
T. Wascher,
M. Wilders-Truschnig,
B. Plecko,
1995,
Journal of Inherited Metabolic Disease.
B. Plecko,
H. Till,
E. Reininghaus,
2020,
European Journal of Pediatrics.
P. Striano,
F. Zara,
S. Papuc,
2017,
Journal of Medical Genetics.
K. Yamakawa,
H. Sticht,
A. Rauch,
2019,
Molecular medicine.
D. Seelow,
D. Horn,
S. Mundlos,
2021,
Journal of Medical Genetics.
E. Bertini,
D. Rodriguez,
O. Boespflug-Tanguy,
2008,
Neurology.
A. Elliott,
B. Sluis,
D. Dekker,
2019
.
CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL
Barbara Plecko,
D. Dekker,
N. Huijkman,
2016,
Nature Communications.
Robert W. Taylor,
T. Meitinger,
S. Seneca,
2017
.
E. Mariman,
M. Schuelke,
J. Smeitink,
1999,
Nature Genetics.
W. Chung,
J. Volkmann,
T. Strom,
2020,
The Lancet Neurology.
Andrea Klein,
Barbara Plecko,
S. Papuc,
2017,
PloS one.
B. Plecko,
S. Stöckler‐Ipsiroglu,
S. Stöckler‐ipsiroglu,
2009,
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques.
M. Blankenburg,
I. Tuxhorn,
C. Bönnemann,
2008
.
B. Plecko,
D. Karall,
W. Sperl,
2015,
Orphanet Journal of Rare Diseases.
W. Mandemakers,
R. Jech,
J. Winkelmann,
2021,
Parkinsonism & related disorders.
E. Bertini,
R. Carrozzo,
A. Kessel,
2019,
Journal of inherited metabolic disease.
M. Speicher,
T. Pieber,
V. Timmerman,
2008,
Neuropediatrics.
B. Plecko,
2021,
Neuropediatrics.
B. Plecko,
G. Natalucci,
J. Wisser,
2017,
Fetal Diagnosis and Therapy.
M. Speicher,
B. Plecko,
S. Verheyen,
2020,
Neurology: Genetics.
W. Löscher,
S. Wortmann,
B. Plecko,
2021,
Journal of inherited metabolic disease.
M. Baumgartner,
I. Harting,
B. Plecko,
2022,
Journal of inherited metabolic disease.
H. Hartung,
V. Timmerman,
B. Plecko,
2002,
Brain : a journal of neurology.
S. Wortmann,
B. Plecko,
D. Karall,
2021,
Orphanet Journal of Rare Diseases.
B. Plecko,
L. Bok,
P. Mills,
2017,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
P. Waters,
B. Plecko,
S. Stockler-Ipsiroglu,
2009,
Molecular genetics and metabolism.
B. Plecko,
N. Khan,
A. Hackenberg,
2014
.
A. Kautzky-Willer,
B. Plecko,
D. Karall,
2021,
Molecular genetics and metabolism.
P. Robinson,
D. Horn,
S. Mundlos,
2014,
European Journal of Human Genetics.
S. Nampoothiri,
K. Kutsche,
A. Janecke,
2021,
Brain : a journal of neurology.
B. Plecko,
E. Paschke,
T. Kroepfl,
2001,
Clinical genetics.
J. Winkelmann,
S. Boesch,
B. Plecko,
2022,
Movement disorders : official journal of the Movement Disorder Society.
B. Plecko,
M. Koko,
R. Berutti,
2022,
Frontiers in Pediatrics.
B. Plecko,
2023,
Journal of Inherited Metabolic Disease.
G. Giovannoni,
C. Mache,
B. Plecko,
2005
.
S. Papuc,
H. Sticht,
A. Rauch,
2018,
European Journal of Human Genetics.
S. Züchner,
P. Bauer,
R. Schüle,
2019,
Brain : a journal of neurology.
T. Meitinger,
H. Prokisch,
T. Haack,
2013
.
P. Robinson,
D. Horn,
S. Mundlos,
2015,
European Journal of Human Genetics.
G. Cooper,
S. Papuc,
J. Schreiber,
2019,
European Journal of Human Genetics.
M. Bumbasirevic,
A. Lešić,
B. Plecko,
2006,
Journal of Inherited Metabolic Disease.
B. Plecko,
2021,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
H. Ropers,
H. Christen,
A. Grüters,
2014,
Journal of Medical Genetics.
Heinrich Sticht,
Hanns Ulrich Zeilhofer,
Yushi Inoue,
2019,
Molecular Medicine.
T. Wieland,
T. Meitinger,
T. Strom,
2014,
Molecular genetics and metabolism.