H. Jungbluth
发表
C. Wallgren‐Pettersson,
J. Laporte,
H. Jungbluth,
2013,
Neuromuscular Disorders.
Straub,
F. Muntoni,
S. Al-Sarraj,
2010,
Annals of neurology.
E. Mercuri,
K. Bushby,
F. Muntoni,
2011,
Neurology.
Sangeeta Khare,
Xin Qi,
Ying Wang,
2016
.
F. Muntoni,
J. Dowling,
A. Ferreiro,
2012,
Neuromuscular Disorders.
C. Wallgren‐Pettersson,
J. Laporte,
H. Jungbluth,
2009
.
F. Muntoni,
A. Ferreiro,
H. Jungbluth,
2008,
Neuromuscular Disorders.
J. Holton,
H. Houlden,
E. Zanoteli,
2015,
Orphanet Journal of Rare Diseases.
Francesco Muntoni,
Rahul Phadke,
Heinz Jungbluth,
2018,
Nature Reviews Neurology.
M. Duchen,
M. Gautel,
E. Eskelinen,
2021,
Autophagy.
Jun Z. Li,
H. Carlson,
D. Born,
2013,
Brain : a journal of neurology.
F. Muntoni,
J. Palace,
N. Laing,
2010,
Neuromuscular Disorders.
F. Muntoni,
G. Ravenscroft,
N. Laing,
2012,
Neurology.
H. Jungbluth,
M. Richer,
S. Riazi,
2019,
Canadian Journal of Anesthesia/Journal canadien d'anesthésie.
H. Jungbluth,
R. Schröder,
O. Rompel,
2018,
Neuromuscular Disorders.
M. Gautel,
H. Jungbluth,
S. Treves,
2017,
Seminars in cell & developmental biology.
P. Laforêt,
N. Voermans,
R. Quinlivan,
2016,
BMJ Open Sport & Exercise Medicine.
N. Voermans,
H. Jungbluth,
2016,
Current opinion in neurology.
A. Lemainque,
C. Bönnemann,
N. Romero,
2002,
Annals of neurology.
Francesco Muntoni,
Heinz Jungbluth,
Francesco Zorzato,
2017,
Seminars in cell & developmental biology.
F. Muntoni,
H. Jungbluth,
S. Treves,
2008,
Current opinion in pharmacology.
F. Muntoni,
H. Jungbluth,
C. Sewry,
2011,
Seminars in Pediatric Neurology.
K. Bushby,
F. Muntoni,
P. Jeannet,
2011,
Human molecular genetics.
D. Baralle,
F. Muntoni,
S. Al-Sarraj,
2011,
Neuromuscular Disorders.
K. Bushby,
F. Muntoni,
U. Jensen,
2012,
Human mutation.
M. Roberts,
B. Engelen,
F. Muntoni,
2013,
Neuromuscular Disorders.
F. Muntoni,
M. Duchen,
K. Mamchaoui,
2013,
Human mutation.
F. Muntoni,
M. Scoto,
A. Manzur,
2015,
Neurology.
B. Engelen,
H. Scheffer,
B. Küsters,
2015,
European journal of neurology.
F. Muntoni,
J. Dowling,
C. Bönnemann,
2016,
Neuromuscular Disorders.
K. Pelin,
F. Muntoni,
C. Wallgren‐Pettersson,
2001,
Neuromuscular Disorders.
K. Pelin,
F. Muntoni,
C. Wallgren‐Pettersson,
2002,
Neuromuscular Disorders.
E. Bertini,
F. Muntoni,
Haiyan Zhou,
2006,
Human molecular genetics.
N. Voermans,
E. Kamsteeg,
H. Jungbluth,
2020,
Neuromuscular Disorders.
W. Scheper,
G. Bates,
R. Fleck,
2017,
Current Biology.
N. Brown,
A. Hamosh,
K. Flanigan,
2016,
Brain : a journal of neurology.
C. Wallgren‐Pettersson,
H. Jungbluth,
2014
.
F. Muntoni,
A. Manzur,
H. Jungbluth,
2016,
Human molecular genetics.
F. Muntoni,
N. Voermans,
H. Jungbluth,
2016
.
Jacqueline A Palace,
F. Norwood,
H. Jungbluth,
2013,
Journal of Neurology, Neurosurgery & Psychiatry.
R. Hoffman,
D. Creel,
D. Viskochil,
2014,
Journal of pediatric ophthalmology and strabismus.
N. Voermans,
H. Jungbluth,
D. Everaerd,
2020,
European journal of neurology.
H. Jungbluth,
K. Záruba,
J. Peters,
1991,
American journal of kidney diseases : the official journal of the National Kidney Foundation.
H. Jungbluth,
H. Jungbluth,
2017,
Neuropathology and applied neurobiology.
K. Bushby,
F. Muntoni,
F. Geranmayeh,
2010,
Neuromuscular Disorders.
K. Bushby,
I. Benjamin,
J. Benesch,
2016,
The Journal of Biological Chemistry.
H. Houlden,
R. King,
M. Reilly,
2009,
Neuromuscular Disorders.
A. Musarò,
L. Pirola,
N. Romero,
2004,
Neuromuscular Disorders.
C. V. van Karnebeek,
H. Jungbluth,
R. Carsetti,
2022,
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.
M. Gautel,
C. Dionisi-Vici,
H. Jungbluth,
2016,
Orphanet Journal of Rare Diseases.
F. Muntoni,
N. Dlamini,
A. King,
2015,
Neuromuscular Disorders.
F. Muntoni,
Haiyan Zhou,
H. Jungbluth,
2009,
Cell calcium.
F. Muntoni,
S. Ducreux,
A. Ferreiro,
2006,
The Biochemical journal.
K. Patel,
F. Muntoni,
C. Bönnemann,
2019,
Neuromuscular Disorders.
S. Mohammed,
V. Biancalana,
D. Ruddy,
2010,
American journal of medical genetics. Part A.
217 th ENMC International Workshop: RYR1 -related Myopathies, 29-31 st January 2016, The Netherlands
J. Dowling,
A. Ferreiro,
H. Jungbluth,
2016
.
C. Bönnemann,
N. Voermans,
B. Loeys,
2015,
American journal of medical genetics. Part C, Seminars in medical genetics.
F. Muntoni,
C. Bönnemann,
Haiyan Zhou,
2007,
Neuromuscular Disorders.
F. Muntoni,
Haiyan Zhou,
P. Stanier,
2006,
American journal of human genetics.
Mark R. Marten,
Erinna F. Lee,
Dana L. Miller,
2021,
Autophagy.
S. Al-Sarraj,
J. McGrath,
H. Jungbluth,
2010,
Neuromuscular Disorders.
F. van Petegem,
N. Voermans,
E. Kamsteeg,
2021,
British journal of anaesthesia.
F. Muntoni,
M. Scoto,
A. Manzur,
2015,
Neurology.
Ching H. Wang,
J. Dowling,
C. Bönnemann,
2014,
Neuromuscular Disorders.
Ching H. Wang,
J. Dowling,
C. Bönnemann,
2014
.
G. Bydder,
K. Pelin,
J. Allsop,
2004,
Neuromuscular Disorders.
E. Haan,
F. Muntoni,
N. Laing,
2003,
Neuromuscular Disorders.
F. Muntoni,
H. Jungbluth,
C. Sewry,
2003,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
F. Muntoni,
S. Brandner,
M. Reilly,
2012,
Journal of the peripheral nervous system : JPNS.
J. Farrés,
C. Kraft,
P. Boya,
2018,
Autophagy.
K. Bushby,
S. Al-Sarraj,
M. Irving,
2011,
Neuromuscular Disorders.
N. Voermans,
H. Jungbluth,
M. Snoeck,
2022,
Canadian Journal of Anesthesia/Journal canadien d'anesthésie.
F. Muntoni,
S. Al-Sarraj,
Haiyan Zhou,
2010,
Neuromuscular Disorders.
P. Fallon,
M. Kinali,
H. Jungbluth,
2020,
Neuromuscular Disorders.
H. Per,
S. Çırak,
H. Jungbluth,
2021,
European journal of ophthalmology.
I. Nelson,
A. D’Amico,
R. Carlier,
2021,
Brain : a journal of neurology.
S. Gallati,
F. Muntoni,
C. Wallgren‐Pettersson,
2003,
Neuromuscular Disorders.
S. Züchner,
M. Lek,
F. Muntoni,
2013,
Brain : a journal of neurology.
S. Al-Sarraj,
Jean-Pierre Lin,
H. Jungbluth,
2009,
Neuropediatrics.
A. Schapira,
G. Ravenscroft,
N. Laing,
2016,
Neuromuscular Disorders.
M. Ashworth,
A. King,
R. Sofat,
2020,
Journal of inherited metabolic disease.
H. Jungbluth,
H. Fink,
F. Reusch,
1978,
Praxis und Klinik der Pneumologie.
M. Kurian,
H. Jungbluth,
2014,
Developmental medicine and child neurology.
White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene
P. Fallon,
C. Bönnemann,
A. Siddiqui,
2009,
Developmental medicine and child neurology.
F. Muntoni,
J. U-King-im,
I. Bodi,
2019,
Neuromuscular Disorders.
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies
F. Muntoni,
L. Santoro,
J. Vissing,
2022,
Brain communications.
G. Bydder,
J. Allsop,
E. Mercuri,
2002,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
H. Jungbluth,
M. Fernandez-Garcia,
E. Wraige,
2022,
Archives of Disease in Childhood.
N. Voermans,
G. Tasca,
H. Jungbluth,
2022,
European journal of neurology.
F. Muntoni,
A. Manzur,
M. Farrugia,
2018,
Neuromuscular Disorders.
F. Muntoni,
A. Manzur,
M. Farrugia,
2018
.
B. V. van Engelen,
N. Voermans,
E. Kamsteeg,
2021,
Clinical genetics.
A. Siddiqui,
H. Jungbluth,
K. Pohl,
2010,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
A. Bjorksten,
G. Dranitsaris,
N. Voermans,
2021,
Neuromuscular Disorders.
N. Voermans,
E. Kamsteeg,
H. Jungbluth,
2020,
Practical Neurology.
H. Jungbluth,
2007
.
N. Voermans,
H. Jungbluth,
M. Snoeck,
2016,
Revue neurologique.
M. Pane,
E. Mercuri,
F. Muntoni,
2011,
Archives of neurology.
Jean-Pierre Lin,
H. Jungbluth,
S. Byrne,
2015,
American journal of medical genetics. Part A.
M. Main,
E. Mercuri,
F. Muntoni,
2004,
Neuropediatrics.
H. Jungbluth,
2013
.
K. Bushby,
F. Muntoni,
C. Bönnemann,
2004,
Neuromuscular Disorders.
C. Hoogenraad,
S. Mehta,
H. Firth,
2016,
Human molecular genetics.
H. Morris,
Jean-Pierre Lin,
T. Hedderly,
2014,
Developmental medicine and child neurology.
S. Al-Sarraj,
N. Dlamini,
F. Norwood,
2008,
Neuromuscular Disorders.
A. Beggs,
N. Romero,
I. Nishino,
2012,
European Journal of Human Genetics.
F. Muntoni,
Haiyan Zhou,
H. Jungbluth,
2010,
Neuromuscular Disorders.
C. Wallgren‐Pettersson,
J. Laporte,
H. Jungbluth,
2009
.
D. Torigian,
J. Huse,
H. Goebel,
2007,
Neuromuscular Disorders.
H. Jungbluth,
E. Schneider,
F. Oppermann,
1971,
Klinische Wochenschrift.
Susan C. Brown,
J. Allsop,
E. Mercuri,
2002,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
N. Kaya,
D. Çolak,
H. Jungbluth,
2011,
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.
F. Muntoni,
J. Dowling,
K. Mills,
2009,
Neuromuscular Disorders.
H. Jungbluth,
C. Austin,
M. Lim,
2014,
Neuromuscular Disorders.
M. Fumagalli,
A. Vincent,
F. Norwood,
2015
.
M. Fumagalli,
A. Vincent,
F. Norwood,
2014,
Neurology: Neuroimmunology & Neuroinflammation.
M. Gautel,
S. Mohammed,
C. Dionisi-Vici,
2013,
European Journal of Human Genetics.
C. Bönnemann,
A. Beggs,
M. Gautel,
2017,
Neuromuscular Disorders.
B. Engelen,
C. Bönnemann,
B. Hamel,
2009,
Journal of Neurology.
F. Muntoni,
M. Scoto,
A. Manzur,
2013,
Neuromuscular Disorders.
Francesco Muntoni,
Heinz Jungbluth,
E. Mercuri,
2005,
Current opinion in neurology.
L. Servais,
H. Jungbluth,
J. Ochala,
2022,
Expert opinion on therapeutic targets.
Susan C. Brown,
K. Pelin,
E. Mercuri,
2001,
Neuromuscular Disorders.
Ching H. Wang,
E. Bertini,
M. Schroth,
2012,
Journal of child neurology.
F. Muntoni,
C. Bönnemann,
N. Romero,
2002,
American journal of human genetics.
F. Muntoni,
H. Jungbluth,
2019,
Seminars in pediatric neurology.
Jacqueline A Palace,
J. Holton,
H. Houlden,
2018,
Neurology.
F. Muntoni,
R. Gambari,
A. Finotti,
2015,
Human molecular genetics.
N. Voermans,
E. Kamsteeg,
H. Jungbluth,
2015,
Neuromuscular Disorders.
M. Swash,
F. Muntoni,
Haiyan Zhou,
2009,
Neuromuscular Disorders.
C. Wallgren‐Pettersson,
J. Laporte,
H. Jungbluth,
2008
.
Susan C. Brown,
E. Bertini,
M. Swash,
2007,
Brain : a journal of neurology.
M. Swash,
G. Bydder,
F. Muntoni,
2005,
Neurology.
G. Bydder,
J. Allsop,
E. Mercuri,
2004,
Neuromuscular Disorders.
R. Quinlivan,
H. Jungbluth,
R. Piercy,
2016,
European journal of neurology.
F. Muntoni,
A. Aloysius,
F. Muntoni,
2008,
Journal of Neuroimmunology.
M. Schuelke,
E. Knierim,
J. Senderek,
2015,
Neurology.
T. Jacques,
Amanda J Murphy,
N. Dlamini,
2013,
Neuromuscular Disorders.
M. Sahin,
G. Hoffmann,
H. Jungbluth,
2016,
Brain : a journal of neurology.
H. Jungbluth,
2007,
Orphanet journal of rare diseases.
B. V. van Engelen,
N. Voermans,
H. Jungbluth,
2022,
Practical Neurology.
G. Bydder,
J. Allsop,
E. Mercuri,
2002,
Neuropediatrics.
H. Jungbluth,
2007
.
Fever‐induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene
B. Engelen,
L. Kluijtmans,
N. Voermans,
2014,
Internal medicine journal.
N. Voermans,
H. Jungbluth,
S. Johannsen,
2021,
Neuromuscular Disorders.
Susan C. Brown,
E. Mercuri,
F. Muntoni,
2002,
Neurology.
Susan C. Brown,
G. Bydder,
E. Mercuri,
2002,
Neurology.
J. Holton,
B. Küsters,
N. Voermans,
2019,
Journal of Neurology.
N. Voermans,
E. Kamsteeg,
H. Jungbluth,
2016,
Cell Biochemistry and Biophysics.
R. Quinlivan,
H. Jungbluth,
2012,
Developmental medicine and child neurology.
Jacqueline A Palace,
M. Farrugia,
P. Ho,
2022,
Neuromuscular Disorders.
E. Mercuri,
F. Muntoni,
C. Wallgren‐Pettersson,
2003,
Neuromuscular Disorders.
F. Muntoni,
L. Servais,
Glyn Williams,
2018,
Human mutation.
M. Gautel,
H. Jungbluth,
2014,
Front. Aging Neurosci..
F. Muntoni,
Haiyan Zhou,
H. Jungbluth,
2007,
IUBMB life.
E. Bertini,
M. Simpson,
H. Goebel,
2012,
Nature Genetics.
A. Siddiqui,
Jean-Pierre Lin,
Saraswathy Sabanathan,
2022,
Neurology.
N. Voermans,
E. Kamsteeg,
H. Jungbluth,
2022,
Neurology.
C. Bönnemann,
A. Foley,
N. Voermans,
2021,
Neurology.
Francesco Muntoni,
H Zhou,
S Treves,
2005
.
T. Meitinger,
T. Strom,
H. Prokisch,
2018,
Neuropediatrics.
E. Mercuri,
F. Muntoni,
T. Yousry,
2019,
Neuromuscular Disorders.
E. Mercuri,
K. Bushby,
F. Muntoni,
2000,
Neuromuscular Disorders.
N. van Alfen,
B. V. van Engelen,
N. Voermans,
2022,
Brain communications.
N. Voermans,
H. Jungbluth,
S. Riazi,
2022,
Anesthesia and analgesia.
The neuromuscular and multisystem features of RYR1-related malignant hyperthermia and rhabdomyolysis
L. Joosten,
N. van Alfen,
B. V. van Engelen,
2021,
Medicine.
F. Muntoni,
K. Mathews,
G. Meola,
2019,
Human mutation.
E. Hardeman,
H. Granzier,
E. Zanoteli,
2019,
bioRxiv.
B. Engelen,
J. Custers,
N. Voermans,
2019,
Neuromuscular Disorders.
Francesco Muntoni,
Heinz Jungbluth,
Haiyan Zhou,
2016,
Science Signaling.
M. Hanna,
H. Jungbluth,
S. V. Tan,
2014,
Pediatrics.
K. Bushby,
A. Beggs,
N. Laing,
2014,
Human mutation.
B. Engelen,
F. Muntoni,
N. Voermans,
2013,
Journal of Neurology.
F. Muntoni,
N. Laing,
V. Dubowitz,
2012,
Neuromuscular Disorders.
P. Fallon,
S. Mohammed,
S. Marks,
2018,
Neuromuscular Disorders.
F. Muntoni,
M. Gautel,
I. Richard,
2021,
Acta Neuropathologica.
N. Voermans,
H. Jungbluth,
S. Treves,
2021,
Current pharmaceutical design.
M. Farrugia,
J. Mcconville,
F. Norwood,
2010,
Journal of Neurology, Neurosurgery & Psychiatry.
F. Muntoni,
A. Ferreiro,
H. Jungbluth,
2011,
European Journal of Human Genetics.
F. Muntoni,
H. Jungbluth,
S. Lillis,
2011,
European Journal of Human Genetics.
F. Muntoni,
E. Bertini,
H. Jungbluth,
2005
.
M. Swash,
E. Aronica,
N. Voermans,
2013,
Neuromuscular Disorders.
N. Foulds,
H. Jungbluth,
P. Hopkins,
2015,
Neuromuscular Disorders.
R. Carrozzo,
D. Pilz,
S. Petrini,
2018,
Autophagy.
Katherine R. Smith,
M. B. Pereira,
A. Need,
2021,
Brain : a journal of neurology.
V. Nakou,
H. Jungbluth,
E. Konstantoulaki,
2018,
Pediatrics.
N. Voermans,
H. Jungbluth,
S. Treves,
2021,
Sports Medicine.
P. Striano,
S. Topp,
K. Hamandi,
2022,
medRxiv.
H. Jungbluth,
N. Allen,
H. Dafsari,
2018,
Journal of child neurology.
H. Houlden,
R. Quinlivan,
H. Jungbluth,
2017,
The American journal of case reports.
A. Lehmann,
M. Kinali,
H. Fassihi,
2023,
Pediatric neurology.
H. Jungbluth,
R. Kropp,
M. Krüpe,
1976,
Beiträge zur Klinik und Erforschung der Tuberkulose und der Lungenkrankheiten.
C. Bönnemann,
N. Voermans,
E. Kamsteeg,
2021,
Neurology.
G. Brown,
M. Zeviani,
F. Muntoni,
2011,
Journal of Medical Genetics.
U. Schlötzer-Schrehardt,
C. Thiel,
F. Norwood,
2016,
Acta neuropathologica communications.
H. Jungbluth,
P. Gringras,
K. El-Kersh,
2016
.
H. Jungbluth,
P. Gringras,
K. El-Kersh,
2015,
Pediatrics.
E. Mercuri,
F. Muntoni,
A. Manzur,
1999,
Archives of disease in childhood.
J. Farrés,
C. Kraft,
P. Boya,
2022,
Autophagy reports.
M. Gautel,
M. Fanto,
H. Jungbluth,
2016,
Brain : a journal of neurology.
M. Owen,
R. Snell,
P. Schofield,
2001,
Human Genetics.
E. Mercuri,
F. Muntoni,
A. Manzur,
2000,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
F. Muntoni,
T. Jacques,
M. Scoto,
2013,
European Journal of Human Genetics.
H. Jungbluth,
2015,
Neuropathology and applied neurobiology.
Sara W. Bird,
Erinna F. Lee,
Michael D. Kim,
2016
.
F. L. Raymond,
I. Bodi,
H. Jungbluth,
2022,
American journal of medical genetics. Part A.
N. Cobben,
P. Wijkstra,
N. Voermans,
2023,
Neuromuscular Disorders.
N. Romero,
D. Mack,
E. Zanoteli,
2020,
Acta neuropathologica communications.
H. Jungbluth,
S. Goyal,
K. Lascelles,
2015,
Seizure.
H. Jungbluth,
M. Snoeck,
N. Kruijt,
2023,
Sports Medicine - Open.
E. Mercuri,
F. Muntoni,
M. Kinali,
2004,
Neuromuscular Disorders.
E. Lai,
A. Giangrande,
F. Hirth,
2019,
The Journal of Neuroscience.
Lee,
Duchen,
Izzo,
2016
.
E. Mercuri,
F. Muntoni,
S. Counsell,
2000,
Neuropediatrics.
H. Jungbluth,
E. Clement,
2014
.
N. Voermans,
E. Kamsteeg,
H. Jungbluth,
2022,
Anesthesiology.
F. Muntoni,
H. Jungbluth,
T. Cullup,
2012,
Neuromuscular Disorders.
K. Claeys,
Jacqueline A Palace,
A. Vincent,
2023,
Brain : a journal of neurology.
N. van Alfen,
B. V. van Engelen,
N. Voermans,
2023,
Journal of neuromuscular diseases.
N. Cobben,
P. Wijkstra,
N. Voermans,
2023,
Neuromuscular Disorders.
A. Siddiqui,
H. Jungbluth,
A. Marinaki,
2010,
Pediatric neurology.
B. Engelen,
P. Laforêt,
N. Voermans,
2013,
Muscle & nerve.
Jacqueline A Palace,
A. Childs,
M. Ryan,
2022,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
H. Jungbluth,
M. Snoeck,
M. Schouten,
2022,
Journal of neuromuscular diseases.
E. Zackai,
J. Lupski,
T. Strom,
2023,
Brain : a journal of neurology.
M. Gautel,
H. Jungbluth,
J. Lobrinus,
2023,
Pediatric transplantation.
A. Bjorksten,
G. Dranitsaris,
N. Voermans,
2021,
Neuromuscular Disorders.
G. Ravenscroft,
C. Ottenheijm,
N. Laing,
2019,
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