H. Lochmüller
发表
E. Shoubridge,
H. Antonicka,
M. Chevrette,
2009,
Nature Genetics.
Jeroen F. J. Laros,
S. van Vooren,
A. Cambon-Thomsen,
2017,
Human mutation.
P. Robinson,
I. Gut,
K. Zatloukal,
2014,
Journal of General Internal Medicine.
A. Beggs,
N. Romero,
H. Lochmüller,
2005,
Nature Genetics.
P. Donnan,
J. Glennon,
B. Engelen,
2018
.
Christine M. Cutillo,
C. Austin,
P. Kaufmann,
2017,
Clinical and translational science.
H. Lochmüller,
A. Hentschel,
G. Gourdon,
2021,
Journal of neuromuscular diseases.
H. Hautmann,
H. Lochmüller,
D. Pongratz,
2002,
Journal of Neurology.
H. Lochmüller,
R. Horvath,
Rachel Thompson,
2020,
The Lancet Neurology.
B. Keavney,
M. Santibanez-Koref,
P. Chinnery,
2012,
Movement disorders : official journal of the Movement Disorder Society.
K. Mathews,
H. Lochmüller,
J. Vissing,
2020,
Annals of clinical and translational neurology.
K. Bushby,
F. Muntoni,
S. Böhringer,
2014
.
H. Lochmüller,
B. Schoser,
M. Walter,
2019,
Journal of neuromuscular diseases.
Hanns Lochmüller,
H. Lochmüller,
S. W. Schubert,
2008,
Molecular and Cellular Biochemistry.
M. Catt,
H. Lochmüller,
G. Gorman,
2018,
Disability and rehabilitation.
K. Bushby,
P. Chinnery,
H. Lochmüller,
2011,
Brain : a journal of neurology.
H. Lochmüller,
M. Walter,
C. Müller-Reible,
2019,
Neuropediatrics.
Andrew G. Hall,
A. Mes-Masson,
P. Riegman,
2019,
Biopreservation and biobanking.
R. Whittaker,
H. Lochmüller,
R. Horvath,
2019,
Human molecular genetics.
H. Lochmüller,
R. Zahedi,
A. Roos,
2018,
Proteomics. Clinical applications.
I. Harting,
F. Muntoni,
K. Zerres,
2005,
Nature Genetics.
G. Bassez,
J. Puymirat,
H. Lochmüller,
2018,
Orphanet Journal of Rare Diseases.
Andrea Olschewski,
Zoltán Bálint,
Eleonore Fröhlich,
2009,
Nature Genetics.
H. Lochmüller,
T. Sejersen,
Rachel Thompson,
2020,
European Journal of Epidemiology.
H. Lochmüller,
S. Spendiff,
A. Manta,
2021,
Journal of neuromuscular diseases.
E. Hoffman,
A. Pestronk,
R. Abresch,
2020,
European Journal of Human Genetics.
A. Beggs,
N. Laing,
C. Wallgren‐Pettersson,
2009,
Human mutation.
H. Lochmüller,
R. Manzano,
M. Wood,
2015,
Scientific Reports.
Robert W. Taylor,
P. Chinnery,
H. Lochmüller,
2014
.
Hanns Lochmüller,
H. Lochmüller,
C. Ortez,
2016,
Journal of Neurology.
Robert W. Taylor,
S. Dimauro,
E. Schon,
2004,
The Lancet.
D. Turnbull,
V. Hans,
H. Lochmüller,
2011,
Journal of Neurology.
U. Bogdahn,
G. Schuierer,
J. Winkler,
2007,
Neurogenetics.
B. Schlotter-Weigel,
K. Gempel,
H. Lochmüller,
2007,
Neuromuscular Disorders.
A. Pestronk,
A. Blamire,
J. Mendell,
2022
.
H. Lochmüller,
D. Górecki,
S. Arkle,
2012,
Journal of cellular and molecular medicine.
J. Hoenicka,
R. Carlier,
H. Lochmüller,
2019,
American journal of medical genetics. Part A.
P. Chinnery,
H. Lochmüller,
R. Horvath,
2021,
Brain : a journal of neurology.
H. Lochmüller,
P. Bourque,
S. Chih,
2022,
Frontiers in Cardiovascular Medicine.
Andrea C. Kakouri,
G. Spyrou,
H. Lochmüller,
2022,
Neuromuscular Disorders.
H. Goebel,
H. Lochmüller,
R. Horvath,
2019,
Neurobiology of Disease.
T. Heskes,
P. Donnan,
J. Deux,
2018,
The Lancet Neurology.
A. Izenberg,
B. Brais,
H. Lochmüller,
2020,
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.
E. Mercuri,
Hanns Lochmüller,
H. Lochmüller,
2020,
Journal of neuromuscular diseases.
E. Shoubridge,
H. Lochmüller,
R. Horvath,
2000,
Journal of Neurology.
H. Mefford,
A. Paetau,
P. Striano,
2022,
Brain : a journal of neurology.
H. Lochmüller,
T. Evangelista,
G. McMacken,
2017,
Neuropediatrics.
H. Lochmüller,
T. Evangelista,
J. Colomer,
2016,
Neuromuscular Disorders.
Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
H. Knoop,
G. Bassez,
H. Lochmüller,
2021,
Neurology: Genetics.
H. Lochmüller,
C. Jimenez-Moreno,
S. Cumming,
2020
.
Jacqueline Palace,
K. Bushby,
F. Muntoni,
2012,
Journal of Neurology.
B. Schlotter-Weigel,
L. Schöls,
T. Pieber,
2007,
Journal of the Neurological Sciences.
P. Chinnery,
H. Lochmüller,
R. Horvath,
2015,
Journal of Neurology.
A. Izenberg,
B. Brais,
H. Lochmüller,
2021,
Journal of neuromuscular diseases.
D. MacArthur,
H. Lochmüller,
R. Horvath,
2019,
European Journal of Human Genetics.
M. Vorgerd,
H. Lochmüller,
A. Huebner,
2006,
Neuromuscular Disorders.
E. Hoffman,
E. Mercuri,
F. Muntoni,
2016,
American journal of human genetics.
H. Lochmüller,
B. Eymard,
E. Girard,
2022,
Acta Neuropathologica.
H. Lochmüller,
M. Hanna,
D. Hilton‐Jones,
2013,
Neuromuscular Disorders.
H. Lochmüller,
G. Acsadi,
J. Nalbantoglu,
1998,
Journal of Molecular Medicine.
I. Nelson,
A. D’Amico,
R. Carlier,
2021,
Brain : a journal of neurology.
Robert W. Taylor,
S. Dimauro,
D. Turnbull,
2006
.
M. Geijer,
H. Lochmüller,
J. Weis,
2020,
Brain : a journal of neurology.
H. Lochmüller,
D. Beeson,
C. Rodolico,
2020,
Neuromuscular Disorders.
P. Gunning,
N. Laing,
C. Wallgren‐Pettersson,
2002,
Neuromuscular Disorders.
A. Bender,
H. Lochmüller,
R. Horvath,
2009,
Journal of Neurology.
S. Beltran,
H. Lochmüller,
R. Horvath,
2020,
Neurology: Genetics.
Robert W. Taylor,
H. Lochmüller,
R. Horvath,
2019,
European Journal of Human Genetics.
B. Schlotter-Weigel,
M. Blankenburg,
P. Huppke,
2022,
Orphanet Journal of Rare Diseases.
B. Wirth,
H. Lochmüller,
A. Sickmann,
2022,
European journal of neurology.
H. Lochmüller,
O. Della Pasqua,
A. Yaroshinsky,
2020,
Pediatric neurology.
M. Santibanez-Koref,
P. Chinnery,
H. Lochmüller,
2013,
JIMD reports.
K. Bushby,
Hanns Lochmüller,
H. Lochmüller,
2008,
Neuromuscular Disorders.
H. Lochmüller,
R. Horvath,
M. Faruq,
2021,
neurogenetics.
E. Zackai,
H. Hakonarson,
H. Brunner,
2022,
HGG advances.
R. Burgess,
C. Borchers,
H. Lochmüller,
2022,
Brain : a journal of neurology.
P. Chinnery,
H. Lochmüller,
R. Horvath,
2012,
Molecular genetics and metabolism.
M. Ruegg,
S. Frank,
H. Lochmüller,
2010,
Neuromuscular Disorders.
T. Eggermann,
H. Lochmüller,
R. Horvath,
2021,
Neuropathology and applied neurobiology.
H. Reichmann,
H. Goebel,
Hanns Lochmüller,
2002,
Neuromuscular Disorders.
H. Lochmüller,
R. Horvath,
Kaitlyn Quinlan,
2020,
Frontiers in Molecular Neuroscience.
H. Lochmüller,
D. Górecki,
J. Szczepanowska,
2009,
Biochemical and biophysical research communications.
A. Pestronk,
A. Blamire,
J. Mendell,
2016,
Neurology: Genetics.
T. Strom,
M. Zeviani,
H. Prokisch,
2009,
Nature Genetics.
H. Morizono,
R. Finkel,
Y. Hathout,
2017,
Neuromuscular Disorders.
H. Lochmüller,
Rachel Thompson,
A. Robertson,
2017,
Advances in experimental medicine and biology.
H. Lochmüller,
R. Horvath,
V. Ramaekers,
1999
.
H. Lochmüller,
Rachel Thompson,
E. Zanoteli,
2021,
European journal of neurology.
C. Borchers,
V. Ramesh,
P. Chinnery,
2017,
Genetics in Medicine.
H. Lochmüller,
R. Horvath,
F. Fatehi,
2020,
Journal of the Neurological Sciences.
M. Tarnopolsky,
H. Lochmüller,
R. Horvath,
2021,
Journal of neuromuscular diseases.
M. Bahlo,
H. Goebel,
L. Kalaydjieva,
2015,
Neuromuscular Disorders.
H. Goebel,
H. Lochmüller,
F. Rüschendorf,
2004,
Journal of Medical Genetics.
R. Wanke,
E. Wolf,
H. Blum,
2013,
Human molecular genetics.
H. Lochmüller,
W. Marques,
E. Zanoteli,
2018,
Journal of Neurology.
B. Bender,
R. Schüle,
L. Schöls,
2020,
Journal of neuromuscular diseases.
J. Seeger,
B. Schrank,
H. Lochmüller,
2010,
Neuromuscular Disorders.
H. Lochmüller,
R. Horvath,
B. Schoser,
2005,
Neuromuscular Disorders.
I. Gut,
B. Wirth,
F. Muntoni,
2020,
The Journal of molecular diagnostics : JMD.
F. Muntoni,
H. Lochmüller,
A. Ferlini,
2020,
Journal of cachexia, sarcopenia and muscle.
Wolfram Kress,
Sabine Rudnik-Schöneborn,
Joachim Weis,
2010,
Journal of Neurology.
Andrea C. Kakouri,
G. Spyrou,
H. Lochmüller,
2022,
RNA biology.
Andrea C. Kakouri,
M. Prokopi,
G. Spyrou,
2021,
Molecular therapy. Methods & clinical development.
Pieter B. T. Neerincx,
Spencer J. Gibson,
Farid Yavari Dizjikan,
2021,
European Journal of Human Genetics.
Pieter B. T. Neerincx,
Spencer J. Gibson,
Farid Yavari Dizjikan,
2021,
European Journal of Human Genetics.
A. Atalaia,
H. Lochmüller,
M. Kierkegaard,
2019,
Annals of clinical and translational neurology.
F. Pontén,
C. Szigyarto,
P. Nilsson,
2020,
Journal of neuromuscular diseases.
V. Mootha,
S. Pearce,
C. Powell,
2020,
medRxiv.
J. Beckmann,
M. Hauser,
K. Zerres,
2009,
American journal of human genetics.
D. MacArthur,
O. Magnusson,
M. Lek,
2017,
Orphanet Journal of Rare Diseases.
Robert W. Taylor,
H. Lochmüller,
G. Falkous,
2020,
Neuromuscular Disorders.
K. Bushby,
K. Flanigan,
C. Béroud,
2017,
Journal of neuromuscular diseases.
Andreas Roos,
Francesco Muntoni,
Rita Barresi,
2017,
American journal of human genetics.
Francesco Muntoni,
Alessandra Ferlini,
Stefan Böhringer,
2014,
Journal of Neurology, Neurosurgery & Psychiatry.
C. Scapoli,
E. Bertini,
M. Pane,
2020,
Frontiers in Genetics.
E. Clementi,
M. Girgenrath,
V. Dubowitz,
2017,
Neuromuscular Disorders.
D. Cirillo,
H. Lochmüller,
Rachel Thompson,
2023,
bioRxiv.
A. Blaschek,
H. Lochmüller,
A. Huebner,
2014,
Neuromuscular Disorders.
R. Tsonaka,
P. Nilsson,
F. Muntoni,
2019,
Journal of cachexia, sarcopenia and muscle.
Christophe Béroud,
K. Bushby,
C. Béroud,
2008,
Neuromuscular Disorders.
A. Mayhew,
H. Lochmüller,
K. Bushby,
2015,
Neuromuscular Disorders.
C. Bönnemann,
T. Lehky,
H. Lochmüller,
2020,
American journal of medical genetics. Part A.
Robert W. Taylor,
F. Tort,
L. Waddell,
2019,
Journal of inherited metabolic disease.
H. Lochmüller,
J. Senderek,
S. Laval,
2016,
Brain : a journal of neurology.
M. Neurath,
H. Lochmüller,
M. Waldner,
2021,
Photoacoustics.
K. K. Yong,
N. Risch,
Hua Tang,
2003,
Nature Genetics.
H. Lochmüller,
C. Jimenez-Moreno,
S. Cumming,
2019,
Acta neurologica Scandinavica.
B. Brais,
H. Lochmüller,
G. Melkus,
2022,
Neuromuscular Disorders.
Rolf Schröder,
Heinz Reichmann,
Sabine Krause,
2003,
Journal of Neurology.
H. Lochmüller,
M. Mayer,
B. Maturi,
2021,
Journal of neuromuscular diseases.
E. Bertini,
K. Bushby,
F. Muntoni,
2003,
Annals of neurology.
H. Lochmüller,
J. Nalbantoglu,
Á. Jáni,
1997,
Gene Therapy.
M. Toepfer,
Hanns Lochmüller,
H. Lochmüller,
2000,
Journal of Neurology.
H. Lochmüller,
J. Kirschner,
2011
.
MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1
Nick C Fox,
T. Heskes,
C. Kennard,
2019,
Brain : a journal of neurology.
M. Tarnopolsky,
H. Lochmüller,
M. Mirabella,
2019,
Neurology.
Hagen H. Kitzler,
Heinz Reichmann,
H. Reichmann,
1999,
The Lancet.
F. Asmus,
H. Lochmüller,
J. Vissing,
2008,
European journal of neurology.
J. Hallmayer,
L. Kalaydjieva,
H. Lochmüller,
2002,
Neurology.
E. Génin,
H. Lochmüller,
J. Pouget,
2008,
Neurology.
G. Bassez,
H. Lochmüller,
B. V. van Engelen,
2019,
Neurology.
B. Mohammadi,
H. Lochmüller,
K. Krampfl,
2001,
Neuroscience Letters.
K. Bushby,
F. Muntoni,
A. Schapira,
2013,
Human mutation.
I. Nelson,
C. Gilissen,
P. Chinnery,
2021,
European Journal of Human Genetics.
Pieter B. T. Neerincx,
Spencer J. Gibson,
Farid Yavari Dizjikan,
2021,
European Journal of Human Genetics.
H. Lochmüller,
T. Neubert,
A. Töpf,
2019,
The Journal of cell biology.
H. Lochmüller,
E. Landfeldt,
P. Lindgren,
2017,
Journal of neuromuscular diseases.
H. Lochmüller,
C. Jimenez-Moreno,
S. Cumming,
2020,
Journal of Neurology.
H. Lochmüller,
M. Rogers,
T. Evangelista,
2017,
Muscle & nerve.
S. Mundlos,
M. Holtgrewe,
M. Schuelke,
2020,
Journal of inherited metabolic disease.
Michael Catt,
Jean-Yves Hogrel,
Grainne S. Gorman,
2017,
Journal of neuromuscular diseases.
Robert W. Taylor,
S. Dimauro,
H. Smeets,
2012,
Brain : a journal of neurology.
Thomas Sejersen,
Rachel Thompson,
Clemens Bloetzer,
2013,
Journal of Neurology.
A. Hoischen,
N. Drouot,
J. Veltman,
2010,
American journal of human genetics.
H. Prokisch,
K. Gempel,
Hanns Lochmüller,
2005,
Journal of Neurology, Neurosurgery & Psychiatry.
H. Lochmüller,
A. Huebner,
C. Gallenmüller,
2012,
Human mutation.
R. Orrell,
H. Lochmüller,
T. Evangelista,
2016,
Journal of Neurology.
H. Lochmüller,
L. Werneck,
A. Töpf,
2020,
Journal of Clinical Neuroscience.
N. Zethraeus,
H. Lochmüller,
T. Sejersen,
2020,
PharmacoEconomics.
H. Lochmüller,
T. Sejersen,
J. Kirschner,
2022,
PharmacoEconomics.
H. Lochmüller,
T. Sejersen,
A. Pechmann,
2021,
Applied Health Economics and Health Policy.
J. Joung,
C. Barbas,
A. Bogdanove,
2013,
Molecular therapy : the journal of the American Society of Gene Therapy.
H. Lochmüller,
R. Horvath,
B. Czermin,
2011,
Journal of Inherited Metabolic Disease.
M. Greene,
R. Moxley,
H. Lochmüller,
2019,
Front. Neurol..
S. Beltran,
P. Chinnery,
H. Lochmüller,
2020,
Journal of Neurology.
J. Lupski,
A. Balduini,
H. Lochmüller,
2023,
American journal of human genetics.
Robert W. Taylor,
V. Ramesh,
M. Santibanez-Koref,
2015,
Journal of neuromuscular diseases.
K. Bushby,
H. Lochmüller,
A. Huebner,
2014,
Neuromuscular Disorders.
H. Lochmüller,
R. Horvath,
A. Sickmann,
2022,
Orphanet Journal of Rare Diseases.
Wolfgang Müller-Felber,
Heinz Wiendl,
Sabine Krause,
2003,
Neuromuscular Disorders.
R. Whittaker,
H. Lochmüller,
R. Horvath,
2020,
European journal of neurology.
G. Pesole,
E. Bertini,
K. Bushby,
2016,
Journal of Cell Science.
H. Lochmüller,
V. Rakocevic-Stojanovic,
J. Colomer,
2012,
Journal of Neurology.
E. Mercuri,
B. Bartels,
H. Lochmüller,
2023,
Neuromuscular Disorders.
H. Lochmüller,
H. Kölbel,
U. Schara,
2020,
Frontiers in Human Neuroscience.
M. Neurath,
H. Lochmüller,
M. Waldner,
2023,
Journal of neuroimaging : official journal of the American Society of Neuroimaging.
H. Lochmüller,
D. Pongratz,
C. Reimers,
1993,
The clinical investigator.
M. Vorgerd,
H. Lochmüller,
W. Stenzel,
2023,
Journal of Neurology.
B. Engelen,
H. Lochmüller,
B. Schoser,
2017,
Neuromuscular Disorders.
H. Lochmüller,
C. Rodolico,
S. Spendiff,
2023,
Journal of neuromuscular diseases.
H. Lochmüller,
L. Maggi,
S. Spendiff,
2022,
Neuromuscular Disorders.
D. Cirillo,
H. Lochmüller,
Rachel Thompson,
2023,
bioRxiv.
H. Lochmüller,
S. Spendiff,
Rita Horvath,
2023,
International journal of molecular sciences.
H. Lochmüller,
L. Werneck,
P. Lorenzoni,
2013,
Journal of the Neurological Sciences.
K. Bushby,
H. Lochmüller,
C. Windpassinger,
2011,
European Journal of Human Genetics.
A. McCormick,
A. Izenberg,
B. Brais,
2020,
Journal of neuromuscular diseases.
H. Lochmüller,
M. Toepfer,
M. Schroeder,
1998,
Digestion.
M. Lek,
D. Macarthur,
H. Lochmüller,
2017,
Neuromuscular Disorders.
L. Servais,
G. Siciliano,
H. Lochmüller,
2021,
Journal of neuromuscular diseases.
H. Lochmüller,
M. Faruq,
A. Nalini,
2021,
Journal of neuromuscular diseases.
S. Petri,
A. Blaschek,
B. Schrank,
2022,
Journal of neuromuscular diseases.
M. D. de Wit,
H. Lochmüller,
A. Ambrosini,
2019,
Orphanet Journal of Rare Diseases.
Pedro Rebelo-Guiomar,
L. Van Haute,
M. Minczuk,
2023,
Nature Communications.
H. Lochmüller,
R. Horvath,
S. Hettwer,
2019,
Cells.
H. Lochmüller,
A. Nalini,
Vykuntaraju K Gowda,
2021,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Zackai,
J. Lupski,
T. Strom,
2023,
Brain : a journal of neurology.
H. Lochmüller,
M. Toepfer,
M. Schroeder,
1999,
Clinical Neurology and Neurosurgery.
H. Lochmüller,
2018,
Journal of Neuromuscular Diseases.
Pieter B. T. Neerincx,
Spencer J. Gibson,
Farid Yavari Dizjikan,
2023,
Human Genomics.
H. Lochmüller,
H. McMillan,
2021,
Muscle & nerve.
H. Lochmüller,
R. Manzano,
T. Roberts,
2015,
Neuromuscular Disorders.
H. Lochmüller,
R. Zahedi,
A. Roos,
2018,
Proteomics. Clinical applications.
H. Lochmüller,
D. Zöller,
A. von Moers,
2022,
Brain : a journal of neurology.
A. McCormick,
A. Izenberg,
B. Brais,
2020,
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.
A. Beggs,
N. Laing,
C. Wallgren‐Pettersson,
2009,
Human mutation.
H. Lochmüller,
A. Robertson,
R. Thompson,
2017,
Advances in Experimental Medicine and Biology.
H. Lochmüller,
E. Kakkis,
Antonio Nino Ramirez,
2021,
Orphanet Journal of Rare Diseases.
M. Ruegg,
S. Frank,
H. Lochmüller,
2010,
Neuromuscular Disorders.
Jacqueline Palace,
K. Bushby,
F. Muntoni,
2012,
Journal of Neurology.
T. Heskes,
P. Donnan,
J. Deux,
2018,
The Lancet Neurology.
M. Vorgerd,
H. Lochmüller,
R. Horvath,
2023,
Molecular Neurobiology.