|
🐜
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MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1
156 auth.
M. Flower,
Vilija Lomeikaite,
Marc Ciosi,
S. Cumming,
F. Morales,
K. Lo,
Davina J. Hensman Moss,
L. Jones,
P. Holmans,
D. Monckton,
S. Tabrizi,
P. Kraus,
Rainer Hoffman,
Alan Tobin,
B. Borowsky,
...
S. Keenan,
K. Whitlock,
S. Queller,
Colin Campbell,
Chiachi Wang,
D. Langbehn,
E. Axelson,
H. Johnson,
T. Acharya,
D. Cash,
C. Frost,
Rebecca Jones,
C. Jurgens,
E. 't Hart,
J. van der Grond,
Marie-Noelle N Witjes- Ane,
R. Roos,
E. Dumas,
S. V. D. van den Bogaard,
C. Stopford,
D. Craufurd,
J. Callaghan,
N. Arran,
D. Rosas,
S. Lee,
W. Monaco,
A. O'Regan,
C. Milchman,
E. Frajman,
I. Labuschagne,
J. Stout,
M. Campbell,
S. Andrews,
N. Bechtel,
R. Reilmann,
S. Bohlen,
C. Kennard,
C. Berna,
S. Hicks,
A. Durr,
C. Pourchot,
É. Bardinet,
K. Nigaud,
Romain Valabré,
`. gue,
S. Lehéricy,
C. Marelli,
C. Jauffret,
D. Justo,
B. Leavitt,
J. Decolongon,
A. Sturrock,
A. Coleman,
R. D. Santos,
A. Patel,
C. Gibbard,
D. Whitehead,
E. Wild,
G. Owen,
H. Crawford,
I. Malone,
N. Lahiri,
Nick C Fox,
N. Hobbs,
R. Scahill,
R. Ordidge,
T. Pepple,
J. Read,
M. Say,
B. Landwehrmeyer,
F. Daidj,
G. Bassez,
Baptiste Lignier,
Florence Couppey,
Stéphanie Delmas,
J. Deux,
K. Hankiewicz,
C. Dogan,
Lisa Minier,
P. Chevalier,
Amira Hamadouche,
M. Catt,
V. V. van Hees,
Sharon D. Catt,
A. Schwalber,
Juliane Dittrich,
M. Kierkegaard,
S. Wenninger,
B. Schoser,
A. Schüller,
K. Stahl,
H. Künzel,
Martin Wolff,
Annamirl Jellinek,
Cecilia Moreno,
G. Gorman,
H. Lochmüller,
M. Trenell,
S. van Laar,
L. Wood,
Sophie Cassidy,
J. Newman,
S. Charman,
Renae Steffaneti,
Louise A. Taylor,
A. Brownrigg,
Sharon Day,
A. Atalaia,
J. Raaphorst,
K. Okkersen,
B. V. van Engelen,
S. Nikolaus,
Yvonne Cornelissen,
M. van Nimwegen,
D. Maas,
Ellen Klerks,
Sacha Bouman,
H. Knoop,
L. Heskamp,
A. Heerschap,
R. Rahmadi,
P. Groot,
T. Heskes,
K. Kapusta,
J. Glennon,
Shaghayegh Abghari,
A. Aschrafi,
G. Poelmans,
S. Treweek,
Fiona Hogarth,
R. Littleford,
P. Donnan,
A. Hapca,
M. Hannah,
E. Mckenzie,
P. Rauchhaus,
S. Cumming,
D. Monckton,
B. Adam,
C. Faber,
I. Merkies
|
6 |
2019 |
6
🐜
|
|
🐜
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Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial
75 auth.
K. Okkersen,
Cecilia Jimenez-Moreno,
S. Wenninger,
F. Daidj,
J. Glennon,
S. Cumming,
R. Littleford,
D. Monckton,
H. Lochmüller,
M. Catt,
C. Faber,
A. Hapca,
P. Donnan,
G. Gorman,
G. Bassez,
...
B. Schoser,
H. Knoop,
S. Treweek,
B. Engelen,
M. Kierkegaard,
D. Monckton,
C. Faber,
P. Donnan,
B. Engelen,
D. Maas,
S. Nikolaus,
Yvonne Cornelissen,
M. Nimwegen,
Ellen Klerks,
Sacha Bouman,
L. Heskamp,
A. Heerschap,
R. Rahmadi,
P. Groot,
T. Heskes,
K. Kapusta,
Shaghayegh Abghari,
A. Aschrafi,
G. Poelmans,
J. Raaphorst,
M. Trenell,
S. V. Laar,
L. Wood,
S. Cassidy,
J. Newman,
S. Charman,
Renae Steffaneti,
Louise A. Taylor,
A. Brownrigg,
Sharon Day,
Antonio Atalaya,
Fiona Hogarth,
A. Schüller,
K. Stahl,
H. Künzel,
Martin Wolf,
Ann Jelinek,
Baptiste Lignier,
Florence Couppey,
Stéphanie Delmas,
J. Deux,
K. Hankiewicz,
C. Dogan,
Lisa Minier,
P. Chevalier,
Amira Hamadouche,
B. Adam,
M. Hannah,
E. Mckenzie,
P. Rauchhaus,
V. V. Hees,
Sharon D. Catt,
A. Schwalber,
I. Merkies,
Juliane Dittrich
|
6 |
2018 |
6
🐜
|
|
🐜
|
Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort
13 auth.
S. Cumming,
Cecilia Jimenez-Moreno,
K. Okkersen,
S. Wenninger,
F. Daidj,
Fiona Hogarth,
R. Littleford,
G. Gorman,
G. Bassez,
B. Schoser,
...
H. Lochmüller,
B. V. van Engelen,
D. Monckton
|
5 |
2019 |
5
🐜
|
|
🐜
|
The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care
92 auth.
Marie de Antonio,
C. Dogan,
F. Daidj,
B. Eymard,
J. Puymirat,
J. Mathieu,
C. Gagnon,
S. Katsahian,
M. A. Arne Bes,
S. Attarian,
A-C Aubé-Nathier,
F. Audic,
N. Bach,
C. Barnerias,
A. Bédat-Millet,
...
A. Béhin,
R. Bellance,
R. Benyaou,
Véronique Bombard,
F. Bouhour,
C. Boutte,
F. Boyer,
C. Cances,
B. Chabrol,
J. Chanson,
F. Chapon,
Raphaële Chasseriau,
P. Cintas,
A. Cobo,
Vanessa Colombert,
Marie-Carmen Cruz,
J. Cuisset,
R. Deschamps,
I. Desguerre,
J. Durigneux,
F. Duval,
C. Espil,
C. Fafin,
L. Féasson,
M. Fradin,
A. Furby,
A. Goldenberg,
S. Grotto,
K. Ghorab,
L. Guyant‐Maréchal,
D. Heron,
A. Isapof,
A. Jacquin-Piques,
H. Journel,
P. Laforêt,
E. Lagrue,
C. Laroche-Raynaud,
V. Laugel,
François Lebeau,
A. Magot,
V. Manel,
M. Mayer,
S. Mercier,
D. Ménard,
M. Michaud,
M. Minot,
R. Morales,
A. Nadaj-Pakleza,
J. Noury,
L. Pasquier,
S. Pellieux,
Y. Péréon,
J. Perrier,
S. Peudenier,
M. Preudhomme,
J. Pouget,
S. Quijano-roy,
S. Ragot-Mandry,
C. Richelme,
F. Rivier,
P. Sabouraud,
S. Sacconi,
E. Salort-Campana,
C. Sarret,
S. Schaeffer,
G. Solé,
T. Stojkovic,
F. Taithe,
H. Testard,
V. Tiffereau,
A. Urtizberea,
C. Vanhulle,
C. Vial,
U. Walther-Louvier,
F. Zagnoli,
D. Hamroun,
G. Bassez
|
3 |
2019 |
3
🐜
|
|
🐜
|
Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
13 auth.
S. Wenninger,
S. Cumming,
K. Gutschmidt,
K. Okkersen,
A. Jiménez-Moreno,
F. Daidj,
H. Lochmüller,
Fiona Hogarth,
H. Knoop,
G. Bassez,
...
D. Monckton,
B. V. van Engelen,
B. Schoser
|
3 |
2021 |
3
🐜
|
|
🐜
|
Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood
47 auth.
Remco T P van Cruchten,
Daniël van As,
J. Glennon,
B. V. van Engelen,
P. A. '. ‘t Hoen,
K. Okkersen,
C. Jimenez-Moreno,
S. Wenninger,
F. Daidj,
S. Cumming,
R. Littleford,
D. Monckton,
Hanns Lochmüller,
M. Catt,
C. Faber,
...
A. Hapca,
P. Donnan,
G. Gorman,
G. Bassez,
B. Schoser,
H. Knoop,
S. Treweek,
D. G. Wansink,
Francis Impens,
R. Gabriels,
Tine Claeys,
A. Ravel-Chapuis,
B. Jasmin,
N. Mahon,
S. Nieuwenhuis,
L. Martens,
Petr Novák,
D. Furling,
A. Baak,
G. Gourdon,
A. MacKenzie,
C. Martinat,
N. Neault,
A. Roos,
É. Duchesne,
Renee Salz,
R. Thompson,
Sandrine Baghdoyan,
A. Varghese,
P. Blom,
S. Spendiff,
A. Manta
|
1 |
2022 |
1
🐜
|
|
🐢
|
[SMA in France, how many patients ?]
J. Urtizberea,
F. Daidj
|
1 |
2018 |
1
🐢
|
