A. Vanderver
发表
Kristy Brown,
A. Vanderver,
E. Hoffman,
2012,
International journal of mass spectrometry.
A. Vanderver,
R. Schiffmann,
S. Grimmond,
2016,
Annals of neurology.
E. Bertini,
A. Vanderver,
D. Rowitch,
2014,
Annals of neurology.
A. Vanderver,
R. Schiffmann,
A. Durr,
2009,
Brain : a journal of neurology.
Kristy Brown,
A. Vanderver,
E. Aronica,
2014,
Annals of the rheumatic diseases.
Vladimir G. Gainullin,
E. Bertini,
A. Vanderver,
2020,
Annals of clinical and translational neurology.
H. Hakonarson,
Yiran Guo,
A. Vanderver,
2014,
Neurology.
A. Vanderver,
R. Schiffmann,
B. Coulombe,
2019,
The Journal of Biological Chemistry.
L. Lagae,
A. Vanderver,
K. Devriendt,
2015,
American journal of medical genetics. Part A.
A. Vanderver,
C. Bodemer,
B. Gener,
2013,
The Lancet Neurology.
A. Vanderver,
Y. Crow,
S. Orcesi,
2022,
Arthritis & rheumatology.
Jane S. Paulsen,
A. Vanderver,
J. Long,
2022,
Medical Imaging.
O. Elroy-Stein,
A. Vanderver,
Y. Hathout,
2008,
PloS one.
E. Bertini,
A. Vanderver,
Q. Waisfisz,
2017,
Neurology.
A. Vanderver,
F. Barkhof,
I. Harting,
2017,
Neuropediatrics.
Inga,
A. Vanderver,
F. Barkhof,
2017
.
A. Vanderver,
R. Schiffmann,
B. Brais,
2011,
American journal of human genetics.
J. Yates,
A. Vanderver,
D. Timmann,
2015,
Nature Communications.
A. Vanderver,
R. Schiffmann,
B. Brais,
2011,
American journal of human genetics.
A. Vanderver,
R. Schiffmann,
R. Carrozzo,
2021,
Genetics in Medicine.
A. Vanderver,
R. Taft,
J. Schreiber,
2015,
American journal of human genetics.
A. Vanderver,
J. Shults,
A. Jawad,
2020,
Molecular genetics and metabolism.
A. Vanderver,
J. Shults,
S. Orcesi,
2019,
Journal of child neurology.
A. Vanderver,
Y. Crow,
Naoki Kitabayashi,
2017,
Neuropediatrics.
A. Vanderver,
Y. Crow,
Naoki Kitabayashi,
2017,
Neuropediatrics.
A. Vanderver,
2005,
Current neurology and neuroscience reports.
Donna M. Martin,
Marc S. Williams,
E. Roeder,
2019,
Human mutation.
A. Vanderver,
W. Gaillard,
M. Berl,
2010,
Neurology.
A. Vanderver,
S. Venkateswaran,
G. Helman,
2018,
Handbook of clinical neurology.
A. Vanderver,
R. Carter,
Kabir Jalal,
2021,
American journal of medical genetics. Part A.
A. Vanderver,
R. Schiffmann,
D. Timmann,
2020,
The Journal of clinical endocrinology and metabolism.
E. Bertini,
A. Vanderver,
D. Timmann,
2019,
Neurology. Genetics.
A. Vanderver,
R. Schiffmann,
S. Chouinard,
2019,
Movement disorders clinical practice.
E. Bertini,
A. Vanderver,
M. Elmaleh,
2017,
Brain : a journal of neurology.
A. Vanderver,
B. Brais,
J. Murnick,
2014,
Journal of child neurology.
A. Vanderver,
R. Schiffmann,
C. Catsman-Berrevoets,
2014,
Neurology.
A. Vanderver,
B. Brais,
C. Stevens,
2013,
Journal of Medical Genetics.
J. Lupski,
R. Gibbs,
S. Jhangiani,
2022,
Annals of neurology.
A. Vanderver,
S. Orcesi,
E. Fazzi,
2012,
Clinical & developmental immunology.
A. Vanderver,
A. Takanohashi,
B. Hanna,
2018,
Molecular genetics and metabolism.
J. Ganesh,
A. Vanderver,
N. Brunetti‐Pierri,
2008,
Human mutation.
A. Vanderver,
Q. Padiath,
Norah Nahhas,
2016
.
Joshua L. Deignan,
Lora J. H. Bean,
J. Rosenfeld,
2020,
American journal of medical genetics. Part A.
S. Humphray,
Z. Kingsbury,
A. Vanderver,
2017,
neurogenetics.
A. Vanderver,
R. Taft,
C. Toro,
2015,
Neurology.
F. Eichler,
A. Vanderver,
R. Schiffmann,
2015,
Molecular genetics and metabolism.
A. Vanderver,
A. Gropman,
N. Ah Mew,
2011,
Pediatric neurology.
Angela N. Viaene,
A. Vanderver,
B. Harding,
2021,
Pediatric neurology.
Michael F. Wangler,
Undiagnosed Diseases Network,
A. Vanderver,
2020,
Human molecular genetics.
A. Vanderver,
C. Blackstone,
T. Pierson,
2014,
Annals of clinical and translational neurology.
F. Eichler,
A. Vanderver,
R. Schiffmann,
2015,
eNeuro.
H. Morizono,
A. Vanderver,
R. Schiffmann,
2011,
Neurology.
A. Singleton,
K. Fischbeck,
A. Vanderver,
2019,
American journal of human genetics.
A. Vanderver,
R. Taft,
J. Conry,
2018,
American journal of medical genetics. Part A.
A. Vanderver,
J. Shults,
C. Alves,
2021,
Journal of child neurology.
A. Vanderver,
J. Shults,
C. Alves,
2021,
Journal of child neurology.
Denise L. Perry,
A. Vanderver,
R. Taft,
2020,
Pediatric neurology.
A. Vanderver,
R. Schiffmann,
T. Meitinger,
2014,
Neurology.
A. Moser,
F. Eichler,
A. Vanderver,
2017,
Molecular genetics and metabolism.
A. Vanderver,
R. Schiffmann,
G. Bernard,
2013,
Journal of neuropathology and experimental neurology.
A. Vanderver,
D. Teachey,
Cheng-Ying Ho,
2021,
Pediatric blood & cancer.
A. Vanderver,
R. Schiffmann,
A. Majnemer,
2018,
Pediatric neurology.
A. Vanderver,
S. Orcesi,
A. Berardinelli,
2014
.
A. Vanderver,
S. Orcesi,
A. Berardinelli,
2013,
Journal of child neurology.
Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31
A. Vanderver,
I. Thiffault,
J. Bouchard,
2010,
neurogenetics.
A. Vanderver,
Maarten H. P. Kole,
M. S. van der Knaap,
2020,
Annals of clinical and translational neurology.
A. Vanderver,
R. Taft,
C. Simons,
2018,
Journal of child neurology.
A. Vanderver,
R. Taft,
C. V. van Karnebeek,
2017,
Pediatric neurology.
A. Vanderver,
Y. Crow,
T. Kuijpers,
2013,
Neurology.
A. Vanderver,
2007
.
A. Vanderver,
S. Orcesi,
G. Rice,
2013
.
A. Vanderver,
R. Rodenburg,
P. Heutink,
2013,
Neurology.
E. Roeder,
A. Vanderver,
M. Tartaglia,
2022,
American Journal of Neuroradiology.
A. Vanderver,
S. Ferdinandusse,
H. Waterham,
2016,
Journal of Medical Genetics.
A. Vanderver,
R. Schiffmann,
J. Shults,
2020,
Annals of neurology.
A. Vanderver,
G. Helman,
M. Escolar,
2015,
Pediatric clinics of North America.
F. Eichler,
A. Vanderver,
R. Schiffmann,
2015,
Molecular genetics and metabolism.
A. Vanderver,
A. Takanohashi,
Akshata A Almad,
2018,
Brain pathology.
A. Vanderver,
Johanna L Schmidt,
H. Hoffman,
2012,
Seminars in pediatric neurology.
A. Vanderver,
J. Bonkowsky,
G. Helman,
2016,
JAMA neurology.
Angela N. Viaene,
A. Vanderver,
R. Schiffmann,
2020,
Journal of child neurology.
A. Vanderver,
2016,
Continuum.
A. Vanderver,
Y. Crow,
S. Orcesi,
2016,
Neurology.
A. Vanderver,
S. Roosendaal,
S. Blaser,
2021,
American Journal of Neuroradiology.
Magnetic resonance imaging spectrum of succinate dehydrogenase–related infantile leukoencephalopathy
A. Vanderver,
R. Taft,
M. S. van der Knaap,
2016,
Annals of neurology.
A. Vanderver,
L. Medne,
A. Gropman,
2014,
American journal of medical genetics. Part A.
A. Vanderver,
J. Shults,
A. Takanohashi,
2021,
Neuropediatrics.
A. Vanderver,
Y. Crow,
S. Orcesi,
2014,
Journal of child neurology.
A. Vanderver,
S. Orcesi,
G. Rice,
2014,
Clinical and experimental immunology.
John H Livingston,
Roberta Battini,
Ivana Olivieri,
2012,
Nature Genetics.
A. Vanderver,
N. Wolf,
2012
.
Jonathan C. Fuller,
D. Bonthron,
E. Bertini,
2009,
Nature Genetics.
A. Green,
D. Bonthron,
E. Bertini,
2007,
American journal of human genetics.
A. Vanderver,
J. Soul,
K. Maski,
2014,
Molecular genetics and metabolism.
A. Moser,
F. Eichler,
A. Vanderver,
2020,
Journal of inherited metabolic disease.
Frederik Barkhof,
Wessel N van Wieringen,
Alberto Bizzi,
2010,
Brain : a journal of neurology.
A. Vanderver,
Nan Wang,
B. Burton,
2014,
Molecular genetics and metabolism reports.
A. Vanderver,
A. Gropman,
2005
.
A. Vanderver,
M. Knaap,
C. Simons,
2016
.
A. Moser,
A. Vanderver,
C. Toro,
2017,
Molecular genetics and metabolism.
E. Bertini,
A. Vanderver,
R. Carrozzo,
2016,
Brain : a journal of neurology.
F. Eichler,
A. Vanderver,
A. Fatemi,
2017,
Molecular genetics and metabolism.
William E. Byrd,
Gabor T. Marth,
David R. Murdock,
2020,
Genetics in Medicine.
Geoffrey J. Faulkner,
Adam D. Ewing,
Adeline Vanderver,
2015,
Cell.
A. Vanderver,
W. Gaillard,
2005
.
A. Vanderver,
W. Köhler,
J. Curiel,
2018,
Nature Reviews Neurology.
A. Vanderver,
Francesco Gavazzi,
S. Evans,
2022,
Current problems in pediatric and adolescent health care.
Eric P Hoffman,
Raphael Schiffmann,
Kanneboyina Nagaraju,
2008,
Journal of proteome research.
A. Vanderver,
J. Bouchard,
C. Toro,
2013,
Human mutation.
Denise L. Perry,
A. Vanderver,
R. Taft,
2021,
Cold Spring Harbor molecular case studies.
William E. Byrd,
Gabor T. Marth,
David R. Murdock,
2021,
Orphanet Journal of Rare Diseases.
William E. Byrd,
Gabor T. Marth,
David R. Murdock,
2021,
Genetics in Medicine.
D. Weissman,
A. Vanderver,
J. Shults,
2022,
Molecular Genetics and Metabolism.
D. Weissman,
A. Vanderver,
J. Shults,
2022,
bioRxiv.
Elizabeth M. Wells,
A. Vanderver,
B. Ances,
2018,
Nature Reviews Neurology.
Karel,
A. Vanderver,
Y. Crow,
2015,
PloS one.
A. Vanderver,
Y. Crow,
N. Kootstra,
2015,
PloS one.
L. Lagae,
A. Vanderver,
J. Tolmie,
2014,
Nature Genetics.
A. L. Goldin,
Jacy L. Wagnon,
M. Hammer,
2016,
Epilepsia.
A. Vanderver,
Johanna L Schmidt,
A. Pizzino,
2014,
Journal of Genetic Counseling.
Neil H. Parker,
Dylan M. Marchione,
R. Redon,
2020,
Science Advances.
William E. Byrd,
Gabor T. Marth,
David R. Murdock,
2020,
Genetics in Medicine.
Rena A. Godfrey,
A. Vanderver,
M. Patterson,
2022
.
Meghan C Towne,
Carol J. Saunders,
B. V. van Bon,
2021,
American journal of human genetics.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
William E. Byrd,
Mercedes E. Alejandro,
Mahshid S. Azamian,
2021,
Genetics in Medicine.
William E. Byrd,
Gabor T. Marth,
Marni J. Falk,
2023,
npj Genomic Medicine.
Ryan J Taft,
Adeline Vanderver,
Geneviève Bernard,
2015,
Molecular genetics and metabolism.
A. Vanderver,
J. Fish,
T. Pierson,
2020,
Pediatric neurology.
A. Vanderver,
C. Toro,
P. Williamson,
2014,
The Journal of Immunology.
A. Vanderver,
J. Shults,
H. Dubbs,
2020,
The New England journal of medicine.
A. Vanderver,
D. Lev,
L. Ben‐Sira,
2020,
American journal of medical genetics. Part A.
A. Vanderver,
M. Patterson,
J. Bonkowsky,
2015,
Molecular genetics and metabolism.
E. Bertini,
A. Vanderver,
N. Brunetti‐Pierri,
2019,
Annals of clinical and translational neurology.
P. Lockhart,
A. Vanderver,
S. Grimmond,
2013,
American journal of human genetics.
William E. Byrd,
Mercedes E. Alejandro,
Mahshid S. Azamian,
2021,
Genetics in Medicine.
P. Lockhart,
A. Vanderver,
M. Meisler,
2019,
Human mutation.
Robert W. Taylor,
J. Casey,
A. Vanderver,
2016,
Journal of Medical Genetics.
A. Vanderver,
F. Barkhof,
P. Pouwels,
2012,
Archives of Neurology.
S. Humphray,
Z. Kingsbury,
A. Vanderver,
2017,
neurogenetics.
L. Lagae,
A. Vanderver,
R. Schiffmann,
2013,
American journal of human genetics.
E. Bertini,
A. Vanderver,
N. Brunetti‐Pierri,
2021,
Human mutation.
A. Ballabio,
F. Eichler,
T. Dierks,
2018,
Molecular genetics and metabolism.
A. Vanderver,
R. Schiffmann,
J. Thompson,
2010,
Neurology.
A. Vanderver,
C. Toro,
P. Williamson,
2014
.
A. Vanderver,
D. Timmann,
T. Haack,
2016,
Neurology.
A. Vanderver,
M. Gelb,
J. Kurtzberg,
2020,
Analytical chemistry.
A. Vanderver,
E. Hoffman,
R. Schiffmann,
2008,
Neurology.
A. Vanderver,
R. Schiffmann,
R. Taft,
2014,
Brain : a journal of neurology.
M. Kamermans,
A. Vanderver,
D. Galanaud,
2013,
The Lancet Neurology.
H. Morizono,
A. Vanderver,
E. Hoffman,
2008,
Journal of child neurology.
A. Vanderver,
B. Brais,
M. S. van der Knaap,
2012,
Archives of neurology.
A. Vanderver,
G. Bernard,
2012
.
A. Vanderver,
E. Hoffman,
R. Schiffmann,
2005,
Clinical chemistry.
A. Vanderver,
R. Schiffmann,
S. Naidu,
2016,
Neuropediatrics.
Robert M. Rauner,
A. Vanderver,
R. Schiffmann,
2022,
Neurology: Genetics.
A. Vanderver,
C. Stutterd,
J. Freeman,
2019,
JIMD reports.
A. Vanderver,
R. Schiffmann,
T. Pierson,
2017,
Human molecular genetics.
A. Vanderver,
F. Barkhof,
I. Harting,
2017,
Neuropediatrics.
A. Vanderver,
S. Grimmond,
R. Taft,
2014,
Pediatric neurology.
William E. Byrd,
Gabor T. Marth,
David R. Murdock,
2020,
Genetics in Medicine.
A. Vanderver,
E. Wolvetang,
A. Takanohashi,
2022,
Stem cell research.
A. Vanderver,
C. Boerkoel,
C. Tifft,
2014,
American journal of medical genetics. Part A.
L. Lagae,
A. Vanderver,
R. Schiffmann,
2016,
Nature Genetics.
A. Vanderver,
J. Shults,
K. Sullivan,
2022,
Molecular genetics and metabolism.
A. Vanderver,
Y. Crow,
S. Orcesi,
2022,
Annals of the Rheumatic Diseases.
A. Vanderver,
Taeun Chang,
G. Vezina,
2014,
Molecular genetics and metabolism reports.
A. Vanderver,
M. Gambello,
M. Tétreault,
2018,
Clinical genetics.
A. Vanderver,
2012,
Neurology.
A. Vanderver,
M. Knaap,
S. Srivastava,
2016
.
A. Vanderver,
R. Figueroa,
D. Flannery,
2012
.
A. Vanderver,
H. Dubbs,
S. Orcesi,
2020,
Pediatric neurology.
A. Vanderver,
Y. Crow,
D. Lev,
2020,
Human mutation.
A. Vanderver,
Laura A. Adang,
A. Gilani,
2019,
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.
A. Vanderver,
R. Goldbach-Mansky,
Laura A. Adang,
2020,
The New England journal of medicine.
A. Vanderver,
R. Schiffmann,
B. Cantarel,
2017,
Neurology: Genetics.
A. Vanderver,
S. Roosendaal,
M. S. van der Knaap,
2022,
Neuropediatrics.
William E. Byrd,
David R. Murdock,
Marni J. Falk,
2020,
Brain : a journal of neurology.
A. Vanderver,
S. Scherer,
A. Takanohashi,
2020,
eLife.
Elizabeth M. Wells,
A. Vanderver,
R. Packer,
2017,
Journal of child neurology.
A. Vanderver,
I. Thiffault,
B. Brais,
2023,
Journal of Medical Genetics.
William E. Byrd,
Marni J. Falk,
Mahshid S. Azamian,
2023,
American journal of human genetics.
A. Vanderver,
G. Alper,
Parisa Sabetrasekh,
2020,
Definitions.
A. Vanderver,
A. Fatemi,
A. Takanohashi,
2019,
bioRxiv.
William E. Byrd,
Marni J. Falk,
Laurel A. Cobban,
2023,
The Journal of pediatrics.
William E. Byrd,
Gabor T. Marth,
Marni J. Falk,
2023,
Orphanet Journal of Rare Diseases.
A. Vanderver,
X. Montalban,
M. Tintoré,
2020,
The Lancet Neurology.
A. Vanderver,
M. Prust,
N. Kadom,
2011,
Journal of child neurology.
J. Rosenfeld,
J. Belmont,
A. Vanderver,
2018,
Genetics in Medicine.
A. Vanderver,
F. Barkhof,
A. Bizzi,
2013
.
Elizabeth M. Wells,
A. Vanderver,
G. Helman,
2017,
Journal of child neurology.
A. Vanderver,
J. Shults,
S. Lorch,
2021,
Pediatric neurology.
A. Vanderver,
I. Harting,
A. Mohr,
2022,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
A. Vanderver,
P. Pouwels,
M. S. van der Knaap,
2023,
Annals of clinical and translational neurology.
A. Vanderver,
Rani K. Singh,
N. Kadom,
2009,
Pediatric neurology.
A. Vanderver,
Y. Hathout,
B. Halligan,
2011,
Methods in molecular biology.
William E. Byrd,
Marni J. Falk,
Mahshid S. Azamian,
2023,
Orphanet Journal of Rare Diseases.
P. Lockhart,
A. Vanderver,
R. Taft,
2019,
JIMD reports.
A. Vanderver,
R. Taft,
C. Simons,
2014
.
William E. Byrd,
Gabor T. Marth,
Marni J. Falk,
2023,
American journal of human genetics.
William E. Byrd,
Gabor T. Marth,
Marni J. Falk,
2023,
American journal of human genetics.
A. Vanderver,
H. Brunner,
P. Fockens,
2019
.
Robert M. Rauner,
A. Vanderver,
A. Fatemi,
2023,
BMC Neurology.
A. Vanderver,
I. Thiffault,
S. Albrecht,
2022,
neurogenetics.
A. Vanderver,
N. Ulrick,
2017
.
A. Vanderver,
R. Taft,
J. Bonkowsky,
2015,
American journal of medical genetics. Part A.
E. Bertini,
A. Vanderver,
D. Rowitch,
2014,
Annals of neurology.
A. Vanderver,
P. Pouwels,
Steffi F. Dreha‐Kulczewksi,
2022
.
A. Vanderver,
J. Long,
Jiacheng Wang,
2022,
MLCN@MICCAI.
Adeline,
Marc S. Williams,
E. Roeder,
2019
.
A. Vanderver,
J. Casanova,
E. Mignot,
2023,
Brain : a journal of neurology.
A. Vanderver,
J. Bonkowsky,
Johanna L Schmidt,
2024,
Molecular genetics and metabolism.
Denise L. Perry,
A. Vanderver,
A. Serretti,
2020,
Journal of Medical Genetics.
Rena A. Godfrey,
A. Vanderver,
M. Patterson,
2012,
Molecular genetics and metabolism.