共 116 条
[1]
SET BINDING FACTOR 1 (SBF1) MUTATION CAUSES CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3
[J].
Alazami, Anas M.
;
Alzahrani, Fatema
;
Bohlega, Saeed
;
Alkuraya, Fowzan S.
.
NEUROLOGY,
2014, 82 (18)
:1665-1666

Alazami, Anas M.
论文数: 0 引用数: 0
h-index: 0

Alzahrani, Fatema
论文数: 0 引用数: 0
h-index: 0

Bohlega, Saeed
论文数: 0 引用数: 0
h-index: 0

Alkuraya, Fowzan S.
论文数: 0 引用数: 0
h-index: 0
[2]
MORC2 Mutations Cause Axonal Charcot-Marie-Tooth Disease With Pyramidal Signs
[J].
Albulym, Obaid M.
;
Kennerson, Marina L.
;
Harms, Matthew B.
;
Drew, Alexander P.
;
Siddell, Anna H.
;
Auer-Grumbach, Michaela
;
Pestronk, Alan
;
Connolly, Anne
;
Baloh, Robert H.
;
Zuchner, Stephan
;
Reddel, Stephen W.
;
Nicholson, Garth A.
.
ANNALS OF NEUROLOGY,
2016, 79 (03)
:419-427

Albulym, Obaid M.
论文数: 0 引用数: 0
h-index: 0
机构:
ANZAC Res Inst, Northcott Neurosci Lab, Hosp Rd, Concord, NSW 2139, Australia
Univ Sydney, Sydney Med Sch, Sydney, NSW 2006, Australia ANZAC Res Inst, Northcott Neurosci Lab, Hosp Rd, Concord, NSW 2139, Australia

Kennerson, Marina L.
论文数: 0 引用数: 0
h-index: 0
机构:
ANZAC Res Inst, Northcott Neurosci Lab, Hosp Rd, Concord, NSW 2139, Australia
Univ Sydney, Sydney Med Sch, Sydney, NSW 2006, Australia
Concord Hosp, Mol Med Lab, Concord, NSW, Australia ANZAC Res Inst, Northcott Neurosci Lab, Hosp Rd, Concord, NSW 2139, Australia

Harms, Matthew B.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA ANZAC Res Inst, Northcott Neurosci Lab, Hosp Rd, Concord, NSW 2139, Australia

Drew, Alexander P.
论文数: 0 引用数: 0
h-index: 0
机构:
ANZAC Res Inst, Northcott Neurosci Lab, Hosp Rd, Concord, NSW 2139, Australia
Univ Sydney, Sydney Med Sch, Sydney, NSW 2006, Australia ANZAC Res Inst, Northcott Neurosci Lab, Hosp Rd, Concord, NSW 2139, Australia

Siddell, Anna H.
论文数: 0 引用数: 0
h-index: 0
机构:
ANZAC Res Inst, Northcott Neurosci Lab, Hosp Rd, Concord, NSW 2139, Australia
Univ Sydney, Sydney Med Sch, Sydney, NSW 2006, Australia ANZAC Res Inst, Northcott Neurosci Lab, Hosp Rd, Concord, NSW 2139, Australia

Auer-Grumbach, Michaela
论文数: 0 引用数: 0
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机构:
Med Univ Vienna, Dept Orthoped, Vienna, Austria ANZAC Res Inst, Northcott Neurosci Lab, Hosp Rd, Concord, NSW 2139, Australia

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Connolly, Anne
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA ANZAC Res Inst, Northcott Neurosci Lab, Hosp Rd, Concord, NSW 2139, Australia

Baloh, Robert H.
论文数: 0 引用数: 0
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机构:
Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USA ANZAC Res Inst, Northcott Neurosci Lab, Hosp Rd, Concord, NSW 2139, Australia

Zuchner, Stephan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Dr John T MacDonald Dept Human Genet, Miami, FL USA
Univ Miami, John P Hussman Inst Human Genom, Miami, FL USA ANZAC Res Inst, Northcott Neurosci Lab, Hosp Rd, Concord, NSW 2139, Australia

Reddel, Stephen W.
论文数: 0 引用数: 0
h-index: 0
机构:
ANZAC Res Inst, Northcott Neurosci Lab, Hosp Rd, Concord, NSW 2139, Australia
Univ Sydney, Sydney Med Sch, Sydney, NSW 2006, Australia
Concord Hosp, Mol Med Lab, Concord, NSW, Australia ANZAC Res Inst, Northcott Neurosci Lab, Hosp Rd, Concord, NSW 2139, Australia

Nicholson, Garth A.
论文数: 0 引用数: 0
h-index: 0
机构:
ANZAC Res Inst, Northcott Neurosci Lab, Hosp Rd, Concord, NSW 2139, Australia
Univ Sydney, Sydney Med Sch, Sydney, NSW 2006, Australia
Concord Hosp, Mol Med Lab, Concord, NSW, Australia ANZAC Res Inst, Northcott Neurosci Lab, Hosp Rd, Concord, NSW 2139, Australia
[3]
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
[J].
Antonellis, A
;
Ellsworth, RE
;
Sambuughin, N
;
Puls, I
;
Abel, A
;
Lee-Lin, SQ
;
Jordanova, A
;
Kremensky, I
;
Christodoulou, K
;
Middleton, LT
;
Sivakumar, K
;
Ionasescu, V
;
Funalot, B
;
Vance, JM
;
Goldfarb, LG
;
Fischbeck, KH
;
Green, ED
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2003, 72 (05)
:1293-1299

Antonellis, A
论文数: 0 引用数: 0
h-index: 0
机构: NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

Ellsworth, RE
论文数: 0 引用数: 0
h-index: 0
机构: NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

Sambuughin, N
论文数: 0 引用数: 0
h-index: 0
机构: NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

Puls, I
论文数: 0 引用数: 0
h-index: 0
机构: NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

Abel, A
论文数: 0 引用数: 0
h-index: 0
机构: NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

Lee-Lin, SQ
论文数: 0 引用数: 0
h-index: 0
机构: NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

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Kremensky, I
论文数: 0 引用数: 0
h-index: 0
机构: NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

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Middleton, LT
论文数: 0 引用数: 0
h-index: 0
机构: NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

Sivakumar, K
论文数: 0 引用数: 0
h-index: 0
机构: NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

Ionasescu, V
论文数: 0 引用数: 0
h-index: 0
机构: NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

Funalot, B
论文数: 0 引用数: 0
h-index: 0
机构: NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

Vance, JM
论文数: 0 引用数: 0
h-index: 0
机构: NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

Goldfarb, LG
论文数: 0 引用数: 0
h-index: 0
机构: NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

Fischbeck, KH
论文数: 0 引用数: 0
h-index: 0
机构: NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

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[4]
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive CharcotMarieTooth disease
[J].
Azzedine, Hamid
;
Zavadakova, Petra
;
Plante-Bordeneuve, Violaine
;
Pato, Maria Vaz
;
Pinto, Nuno
;
Bartesaghi, Luca
;
Zenker, Jennifer
;
Poirot, Olivier
;
Bernard-Marissal, Nathalie
;
Gouttenoire, Estelle Arnaud
;
Cartoni, Romain
;
Title, Alexandra
;
Venturini, Giulia
;
Medard, Jean-Jacques
;
Makowski, Edward
;
Schoels, Ludger
;
Claeys, Kristl G.
;
Stendel, Claudia
;
Roos, Andreas
;
Weis, Joachim
;
Dubourg, Odile
;
Loureiro, Jose Leal
;
Stevanin, Giovanni
;
Said, Gerard
;
Amato, Anthony
;
Baraban, Jay
;
LeGuern, Eric
;
Senderek, Jan
;
Rivolta, Carlo
;
Chrast, Roman
.
HUMAN MOLECULAR GENETICS,
2013, 22 (20)
:4224-4232

Azzedine, Hamid
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Zavadakova, Petra
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Plante-Bordeneuve, Violaine
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Henri Mondor, Serv Neurol, F-94000 Creteil, France Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Pato, Maria Vaz
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Beira Interior, CICS Hlth Sci Res Ctr, P-6200506 Covilha, Portugal Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Pinto, Nuno
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Beira Interior, CICS Hlth Sci Res Ctr, P-6200506 Covilha, Portugal Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Bartesaghi, Luca
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Zenker, Jennifer
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Poirot, Olivier
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Bernard-Marissal, Nathalie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Gouttenoire, Estelle Arnaud
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Cartoni, Romain
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Title, Alexandra
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Venturini, Giulia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Medard, Jean-Jacques
论文数: 0 引用数: 0
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机构:
Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Makowski, Edward
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Solomon H Snyder Dept Neurosci, Baltimore, MD 21205 USA Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Schoels, Ludger
论文数: 0 引用数: 0
h-index: 0
机构:
Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, D-72076 Tubingen, Germany
Ctr Neurol, D-72076 Tubingen, Germany Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Claeys, Kristl G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp RWTH Aachen, Inst Neuropathol, D-52074 Aachen, Germany
Univ Hosp RWTH Aachen, Dept Neurol, D-52074 Aachen, Germany Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Stendel, Claudia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp RWTH Aachen, Dept Neurol, D-52074 Aachen, Germany Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Roos, Andreas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp RWTH Aachen, Inst Neuropathol, D-52074 Aachen, Germany Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Weis, Joachim
论文数: 0 引用数: 0
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机构:
Univ Hosp RWTH Aachen, Inst Neuropathol, D-52074 Aachen, Germany Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Dubourg, Odile
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Pitie Salpetriere, AP HP, Ctr Reference Malad Neuromusculaires, F-75013 Paris, France Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Loureiro, Jose Leal
论文数: 0 引用数: 0
h-index: 0
机构:
UnIGENe, P-4050 Oporto, Portugal
Ctr Genet Predit & Prevent, Inst Mol & Cellular Biol, P-4050 Oporto, Portugal
Ctr Hosp Entre Douro & Vouga, Serv Neurol, P-4520211 Santa Maria Feira, Portugal Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Stevanin, Giovanni
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Pitie Salpetriere, UPMC 975, INSERM, Inst Cerveau & Moelle Epiniere,Ctr Rech, F-75013 Paris, France
CHU Pitie Salpetriere, CNRS 7225, F-75013 Paris, France
CHU Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, France
CHU Pitie Salpetriere, Ecole Prat Hautes Etud, Neurogenet Grp, F-75013 Paris, France Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Said, Gerard
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 06, Pitie Salpetriere Hosp, AP HP, Dept Neurol, F-75013 Paris, France Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Amato, Anthony
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Brigham & Womens Hosp, Dept Neurol, Boston, MA 02115 USA Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Baraban, Jay
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Solomon H Snyder Dept Neurosci, Baltimore, MD 21205 USA Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

LeGuern, Eric
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Pitie Salpetriere, UPMC 975, INSERM, Inst Cerveau & Moelle Epiniere,Ctr Rech, F-75013 Paris, France
CHU Pitie Salpetriere, CNRS 7225, F-75013 Paris, France
CHU Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, France Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

Senderek, Jan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munich, Friedrich Baur Inst, Dept Neurol, D-81377 Munich, Germany Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland

论文数: 引用数:
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Chrast, Roman
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland
[5]
Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3
[J].
Barhoumi, C
;
Amouri, R
;
Ben Hamida, C
;
Ben Hamida, M
;
Machghoul, S
;
Gueddiche, M
;
Hentati, F
.
NEUROMUSCULAR DISORDERS,
2001, 11 (01)
:27-34

Barhoumi, C
论文数: 0 引用数: 0
h-index: 0
机构: Inst Natl Neurol, Tunis 1007, Tunisia

Amouri, R
论文数: 0 引用数: 0
h-index: 0
机构: Inst Natl Neurol, Tunis 1007, Tunisia

Ben Hamida, C
论文数: 0 引用数: 0
h-index: 0
机构: Inst Natl Neurol, Tunis 1007, Tunisia

Ben Hamida, M
论文数: 0 引用数: 0
h-index: 0
机构: Inst Natl Neurol, Tunis 1007, Tunisia

Machghoul, S
论文数: 0 引用数: 0
h-index: 0
机构: Inst Natl Neurol, Tunis 1007, Tunisia

Gueddiche, M
论文数: 0 引用数: 0
h-index: 0
机构: Inst Natl Neurol, Tunis 1007, Tunisia

Hentati, F
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Natl Neurol, Tunis 1007, Tunisia Inst Natl Neurol, Tunis 1007, Tunisia
[6]
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
[J].
Baxter, RV
;
Ben Othmane, K
;
Rochelle, JM
;
Stajich, JE
;
Hulette, C
;
Dew-Knight, S
;
Hentati, F
;
Ben Hamida, M
;
Bel, S
;
Stenger, JE
;
Gilbert, JR
;
Pericak-Vance, MA
;
Vance, JM
.
NATURE GENETICS,
2002, 30 (01)
:21-22

Baxter, RV
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Inst Genom Sci & Policy, Ctr Human Genet, Durham, NC 27710 USA

Ben Othmane, K
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Inst Genom Sci & Policy, Ctr Human Genet, Durham, NC 27710 USA

Rochelle, JM
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Inst Genom Sci & Policy, Ctr Human Genet, Durham, NC 27710 USA

Stajich, JE
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Inst Genom Sci & Policy, Ctr Human Genet, Durham, NC 27710 USA

Hulette, C
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Inst Genom Sci & Policy, Ctr Human Genet, Durham, NC 27710 USA

Dew-Knight, S
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Inst Genom Sci & Policy, Ctr Human Genet, Durham, NC 27710 USA

Hentati, F
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Inst Genom Sci & Policy, Ctr Human Genet, Durham, NC 27710 USA

Ben Hamida, M
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Inst Genom Sci & Policy, Ctr Human Genet, Durham, NC 27710 USA

Bel, S
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Inst Genom Sci & Policy, Ctr 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, Inst Genom Sci & Policy, Ctr Human Genet, Durham, NC 27710 USA

Gilbert, JR
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Inst Genom Sci & Policy, Ctr 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, Inst Genom Sci & Policy, Ctr Human Genet, Durham, NC 27710 USA

Vance, JM
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Inst Genom Sci & Policy, Ctr Human Genet, Durham, NC 27710 USA
[7]
Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene
[J].
Birouk, N
;
Azzedine, H
;
Dubourg, O
;
Muriel, MP
;
Benomar, A
;
Hamadouche, T
;
Maisonobe, T
;
Ouazzani, R
;
Brice, A
;
Yahyaoui, M
;
Chkili, T
;
Le Guern, E
.
ARCHIVES OF NEUROLOGY,
2003, 60 (04)
:598-604

Birouk, N
论文数: 0 引用数: 0
h-index: 0
机构: Hop Specialites, Serv Neurol, Rabat Inst, Rabat, Morocco

Azzedine, H
论文数: 0 引用数: 0
h-index: 0
机构: Hop Specialites, Serv Neurol, Rabat Inst, Rabat, Morocco

Dubourg, O
论文数: 0 引用数: 0
h-index: 0
机构: Hop Specialites, Serv Neurol, Rabat Inst, Rabat, Morocco

Muriel, MP
论文数: 0 引用数: 0
h-index: 0
机构: Hop Specialites, Serv Neurol, Rabat Inst, Rabat, Morocco

Benomar, A
论文数: 0 引用数: 0
h-index: 0
机构: Hop Specialites, Serv Neurol, Rabat Inst, Rabat, Morocco

Hamadouche, T
论文数: 0 引用数: 0
h-index: 0
机构: Hop Specialites, Serv Neurol, Rabat Inst, Rabat, Morocco

Maisonobe, T
论文数: 0 引用数: 0
h-index: 0
机构: Hop Specialites, Serv Neurol, Rabat Inst, Rabat, Morocco

Ouazzani, R
论文数: 0 引用数: 0
h-index: 0
机构: Hop Specialites, Serv Neurol, Rabat Inst, Rabat, Morocco

Brice, A
论文数: 0 引用数: 0
h-index: 0
机构: Hop Specialites, Serv Neurol, Rabat Inst, Rabat, Morocco

Yahyaoui, M
论文数: 0 引用数: 0
h-index: 0
机构: Hop Specialites, Serv Neurol, Rabat Inst, Rabat, Morocco

Chkili, T
论文数: 0 引用数: 0
h-index: 0
机构: Hop Specialites, Serv Neurol, Rabat Inst, Rabat, Morocco

Le Guern, E
论文数: 0 引用数: 0
h-index: 0
机构: Hop Specialites, Serv Neurol, Rabat Inst, Rabat, Morocco
[8]
Periaxin mutations cause recessive Dejerine-Sottas neuropathy
[J].
Boerkoel, CF
;
Takashima, H
;
Stankiewicz, P
;
Garcia, CA
;
Leber, SM
;
Rhee-Morris, L
;
Lupski, JR
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2001, 68 (02)
:325-333

Boerkoel, CF
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Takashima, H
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Stankiewicz, P
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Garcia, CA
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Leber, SM
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Rhee-Morris, L
论文数: 0 引用数: 0
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机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Lupski, JR
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[9]
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
[J].
Bolino, A
;
Muglia, M
;
Conforti, FL
;
LeGuern, E
;
Salih, MAM
;
Georgiou, DM
;
Christodoulou, K
;
Hausmanowa-Petrusewicz, I
;
Mandich, P
;
Schenone, A
;
Gambardella, A
;
Bono, F
;
Quattrone, A
;
Devoto, M
;
Monaco, AP
.
NATURE GENETICS,
2000, 25 (01)
:17-19

Bolino, A
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Muglia, M
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Conforti, FL
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

LeGuern, E
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Salih, MAM
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Georgiou, DM
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

论文数: 引用数:
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机构:

Hausmanowa-Petrusewicz, I
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h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Mandich, P
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Schenone, A
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Gambardella, A
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Bono, F
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Quattrone, A
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Devoto, M
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Monaco, AP
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Ctr Human Genet, Oxford, England Wellcome Trust Ctr Human Genet, Oxford, England
[10]
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
[J].
Bomont, P
;
Cavalier, L
;
Blondeau, F
;
Hamida, CB
;
Belal, S
;
Tazir, M
;
Demir, E
;
Topaloglu, H
;
Korinthenberg, R
;
Tüysüz, B
;
Landrieu, P
;
Hentati, F
;
Koenig, M
.
NATURE GENETICS,
2000, 26 (03)
:370-374

Bomont, P
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机构: ULP, INSERM, CNRS, Inst Genet & Biol Mol & Cellularie, F-67404 Illkirch Graffenstaden, France

Cavalier, L
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机构: ULP, INSERM, CNRS, Inst Genet & Biol Mol & Cellularie, F-67404 Illkirch Graffenstaden, France

Blondeau, F
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Hamida, CB
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机构: ULP, INSERM, CNRS, Inst Genet & Biol Mol & Cellularie, F-67404 Illkirch Graffenstaden, France

Belal, S
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机构: ULP, INSERM, CNRS, Inst Genet & Biol Mol & Cellularie, F-67404 Illkirch Graffenstaden, France

Tazir, M
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机构: ULP, INSERM, CNRS, Inst Genet & Biol Mol & Cellularie, F-67404 Illkirch Graffenstaden, France

Demir, E
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Topaloglu, H
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机构: ULP, INSERM, CNRS, Inst Genet & Biol Mol & Cellularie, F-67404 Illkirch Graffenstaden, France

Korinthenberg, R
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Tüysüz, B
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Landrieu, P
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Hentati, F
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机构: ULP, INSERM, CNRS, Inst Genet & Biol Mol & Cellularie, F-67404 Illkirch Graffenstaden, France

Koenig, M
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机构: ULP, INSERM, CNRS, Inst Genet & Biol Mol & Cellularie, F-67404 Illkirch Graffenstaden, France