共 7 条
[1]
Mutations in dynamin 2 cause dominant centronuclear myopathy
[J].
Bitoun, M
;
Maugenre, S
;
Jeannet, PY
;
Lacène, E
;
Ferrer, X
;
Laforêt, P
;
Martin, JJ
;
Laporte, J
;
Lochmüller, H
;
Beggs, AH
;
Fardeau, M
;
Eymard, B
;
Romero, NB
;
Guicheney, P
.
NATURE GENETICS,
2005, 37 (11)
:1207-1209

Bitoun, M
论文数: 0 引用数: 0
h-index: 0
机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, France

Maugenre, S
论文数: 0 引用数: 0
h-index: 0
机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, France

Jeannet, PY
论文数: 0 引用数: 0
h-index: 0
机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, France

Lacène, E
论文数: 0 引用数: 0
h-index: 0
机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, France

Ferrer, X
论文数: 0 引用数: 0
h-index: 0
机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, France

Laforêt, P
论文数: 0 引用数: 0
h-index: 0
机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, France

Martin, JJ
论文数: 0 引用数: 0
h-index: 0
机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, France

Laporte, J
论文数: 0 引用数: 0
h-index: 0
机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, France

Lochmüller, H
论文数: 0 引用数: 0
h-index: 0
机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, France

Beggs, AH
论文数: 0 引用数: 0
h-index: 0
机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, France

Fardeau, M
论文数: 0 引用数: 0
h-index: 0
机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, France

Eymard, B
论文数: 0 引用数: 0
h-index: 0
机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, France

Romero, NB
论文数: 0 引用数: 0
h-index: 0
机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, France

Guicheney, P
论文数: 0 引用数: 0
h-index: 0
机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, France
[2]
A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: Clinical and pathological findings
[J].
Bitoun, Marc
;
Stojkovic, Tanya
;
Prudhon, Bernard
;
Maurage, Claude-Alain
;
Latour, Philippe
;
Vermersch, Patrick
;
Guicheney, Pascale
.
NEUROMUSCULAR DISORDERS,
2008, 18 (04)
:334-338

Bitoun, Marc
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U582, Inst Myol, F-75013 Paris, France
Univ Paris 06, UPMC, UMR S582, IFR14, F-75013 Paris, France INSERM, U582, Inst Myol, F-75013 Paris, France

Stojkovic, Tanya
论文数: 0 引用数: 0
h-index: 0
机构:
Grp Hosp Pitie Salpetriere, Ctr Reference Pathol Neuromusculaire Paris Est, F-75634 Paris, France INSERM, U582, Inst Myol, F-75013 Paris, France

Prudhon, Bernard
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U582, Inst Myol, F-75013 Paris, France
Univ Paris 06, UPMC, UMR S582, IFR14, F-75013 Paris, France INSERM, U582, Inst Myol, F-75013 Paris, France

Maurage, Claude-Alain
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Lille, Serv Neuropathol, F-59037 Lille, France INSERM, U582, Inst Myol, F-75013 Paris, France

Latour, Philippe
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Est, Serv Neurogenet Mol, Bron, France INSERM, U582, Inst Myol, F-75013 Paris, France

Vermersch, Patrick
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Lille, Ctr Natl Reference Malad Neuromusculaires Nord, F-59037 Lille, France INSERM, U582, Inst Myol, F-75013 Paris, France

Guicheney, Pascale
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U582, Inst Myol, F-75013 Paris, France
Univ Paris 06, UPMC, UMR S582, IFR14, F-75013 Paris, France
Grp Hosp Pitie Salpetriere, AP HP, F-75013 Paris, France INSERM, U582, Inst Myol, F-75013 Paris, France
[3]
Dynamin 2 mutations cause sporadic centronuclear myropathy with neonatal onset
[J].
Bitoun, Marc
;
Bevilacqua, Jorge A.
;
Prudhon, Bernard
;
Maugenre, Svetlana
;
Taratuto, Ana Lia
;
Monges, Soledad
;
Lubieniecki, Fabiana
;
Cances, Claude
;
Uro-Coste, Emmanuelle
;
Mayer, Michele
;
Fardeau, Michel
;
Romero, Norma B.
;
Guicheney, Pascale
.
ANNALS OF NEUROLOGY,
2007, 62 (06)
:666-670

Bitoun, Marc
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, Inst Myol, U582, F-75654 Paris 13, France
Univ Paris 06, UMR S582, Inst Fed Rech 14, Paris, France INSERM, Inst Myol, U582, F-75654 Paris 13, France

Bevilacqua, Jorge A.
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, Inst Myol, U582, F-75654 Paris 13, France
Univ Chile, Inst Ciencias Biomed, Santiago, Chile
Univ Chile, Hosp Clin, Dept Neurol & Neurocirugia, Santiago, Chile INSERM, Inst Myol, U582, F-75654 Paris 13, France

Prudhon, Bernard
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, Inst Myol, U582, F-75654 Paris 13, France
Univ Paris 06, UMR S582, Inst Fed Rech 14, Paris, France INSERM, Inst Myol, U582, F-75654 Paris 13, France

Maugenre, Svetlana
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, Inst Myol, U582, F-75654 Paris 13, France
Univ Paris 06, UMR S582, Inst Fed Rech 14, Paris, France INSERM, Inst Myol, U582, F-75654 Paris 13, France

Taratuto, Ana Lia
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn Lucha Enfermedades Neurol Infancia, Neurol Res Inst, Inst Invest Neurol, Buenos Aires, DF, Argentina INSERM, Inst Myol, U582, F-75654 Paris 13, France

Monges, Soledad
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Inst Myol, U582, F-75654 Paris 13, France

Lubieniecki, Fabiana
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Inst Myol, U582, F-75654 Paris 13, France

Cances, Claude
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Inst Myol, U582, F-75654 Paris 13, France

Uro-Coste, Emmanuelle
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Rangueil, Serv Anat Pathol, F-31054 Toulouse, France INSERM, Inst Myol, U582, F-75654 Paris 13, France

Mayer, Michele
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Inst Myol, U582, F-75654 Paris 13, France

Fardeau, Michel
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, Inst Myol, U582, F-75654 Paris 13, France
Univ Paris 06, UMR S582, Inst Fed Rech 14, Paris, France
Grp Hosp Pitie Salpetriere, APHP, Paris, France INSERM, Inst Myol, U582, F-75654 Paris 13, France

Romero, Norma B.
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, Inst Myol, U582, F-75654 Paris 13, France
Univ Paris 06, UMR S582, Inst Fed Rech 14, Paris, France
Grp Hosp Pitie Salpetriere, APHP, Paris, France INSERM, Inst Myol, U582, F-75654 Paris 13, France

Guicheney, Pascale
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, Inst Myol, U582, F-75654 Paris 13, France
Univ Paris 06, UMR S582, Inst Fed Rech 14, Paris, France
Grp Hosp Pitie Salpetriere, APHP, Paris, France INSERM, Inst Myol, U582, F-75654 Paris 13, France
[4]
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease
[J].
Fabrizi, G. M.
;
Ferrarini, M.
;
Cavallaro, T.
;
Cabrini, I.
;
Cerini, R.
;
Bertolasi, L.
;
Rizzuto, N.
.
NEUROLOGY,
2007, 69 (03)
:291-295

Fabrizi, G. M.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Verona, Sect Clin Neurol, Dept Neurol & Visual Sci, Policlin GB Rossi, I-37134 Verona, Italy

Ferrarini, M.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Verona, Sect Clin Neurol, Dept Neurol & Visual Sci, Policlin GB Rossi, I-37134 Verona, Italy

Cavallaro, T.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Verona, Sect Clin Neurol, Dept Neurol & Visual Sci, Policlin GB Rossi, I-37134 Verona, Italy

Cabrini, I.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Verona, Sect Clin Neurol, Dept Neurol & Visual Sci, Policlin GB Rossi, I-37134 Verona, Italy

Cerini, R.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Verona, Sect Clin Neurol, Dept Neurol & Visual Sci, Policlin GB Rossi, I-37134 Verona, Italy

Bertolasi, L.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Verona, Sect Clin Neurol, Dept Neurol & Visual Sci, Policlin GB Rossi, I-37134 Verona, Italy

Rizzuto, N.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Verona, Sect Clin Neurol, Dept Neurol & Visual Sci, Policlin GB Rossi, I-37134 Verona, Italy
[5]
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy
[J].
Fischer, Dirk
;
Herasse, Muriel
;
Bitoun, Marc
;
Barragan-Campos, Hector M.
;
Chiras, Jacques
;
Laforet, Pascal
;
Fardeau, Michel
;
Eymard, Bruno
;
Guicheney, Pascale
;
Romero, Norma B.
.
BRAIN,
2006, 129
:1463-1469

Fischer, Dirk
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582,IFR14, Paris, France

Herasse, Muriel
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582,IFR14, Paris, France

Bitoun, Marc
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582,IFR14, Paris, France

Barragan-Campos, Hector M.
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582,IFR14, Paris, France

Chiras, Jacques
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582,IFR14, Paris, France

Laforet, Pascal
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582,IFR14, Paris, France

Fardeau, Michel
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582,IFR14, Paris, France

Eymard, Bruno
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582,IFR14, Paris, France

Guicheney, Pascale
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582,IFR14, Paris, France

Romero, Norma B.
论文数: 0 引用数: 0
h-index: 0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582,IFR14, Paris, France Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582,IFR14, Paris, France
[6]
Clinical and histologic findings in autosomal centronuclear myopathy
[J].
Jeannet, PY
;
Bassez, G
;
Eymard, B
;
Laforêt, P
;
Urtizberea, JA
;
Rouche, A
;
Guicheney, P
;
Fardeau, M
;
Romero, NB
.
NEUROLOGY,
2004, 62 (09)
:1484-1490

Jeannet, PY
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, INSERM, U582, F-75651 Paris 13, France

Bassez, G
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, INSERM, U582, F-75651 Paris 13, France

Eymard, B
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, INSERM, U582, F-75651 Paris 13, France

Laforêt, P
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, INSERM, U582, F-75651 Paris 13, France

Urtizberea, JA
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, INSERM, U582, F-75651 Paris 13, France

Rouche, A
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, INSERM, U582, F-75651 Paris 13, France

Guicheney, P
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, INSERM, U582, F-75651 Paris 13, France

Fardeau, M
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, INSERM, U582, F-75651 Paris 13, France

Romero, NB
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, INSERM, U582, F-75651 Paris 13, France
[7]
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
[J].
Züchner, S
;
Noureddine, M
;
Kennerson, M
;
Verhoeven, K
;
Claeys, K
;
De Jonghe, P
;
Merory, J
;
Oliveira, SA
;
Speer, MC
;
Stenger, JE
;
Walizada, G
;
Zhu, DQ
;
Pericak-Vance, MA
;
Nicholson, G
;
Timmerman, V
;
Vance, JM
.
NATURE GENETICS,
2005, 37 (03)
:289-294

Züchner, S
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Med Ctr, Dept Human Genet, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Human Genet, Durham, NC 27710 USA

Noureddine, M
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Human Genet, Durham, NC 27710 USA

Kennerson, M
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Human Genet, Durham, NC 27710 USA

Verhoeven, K
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Human Genet, Durham, NC 27710 USA

Claeys, K
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Human Genet, Durham, NC 27710 USA

De Jonghe, P
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Human Genet, Durham, NC 27710 USA

Merory, J
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Human Genet, Durham, NC 27710 USA

Oliveira, SA
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Human Genet, Durham, NC 27710 USA

Speer, MC
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Human Genet, Durham, NC 27710 USA

Stenger, JE
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Human Genet, Durham, NC 27710 USA

Walizada, G
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Human Genet, Durham, NC 27710 USA

Zhu, DQ
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Human Genet, Durham, NC 27710 USA

Pericak-Vance, MA
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Human Genet, Durham, NC 27710 USA

Nicholson, G
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Human Genet, Durham, NC 27710 USA

论文数: 引用数:
h-index:
机构:

Vance, JM
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Human Genet, Durham, NC 27710 USA