共 6 条
[1]
A Pattern Recognition Approach to Patients with a Suspected Myopathy
[J].
Barohn, Richard J.
;
Dimachkie, Mazen M.
;
Jackson, Carlayne E.
.
NEUROLOGIC CLINICS,
2014, 32 (03)
:569-+

Barohn, Richard J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Kansas, Med Ctr, Dept Neurol, Kansas City, KS 66160 USA Univ Kansas, Med Ctr, Dept Neurol, Kansas City, KS 66160 USA

Dimachkie, Mazen M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Kansas, Med Ctr, Dept Neurol, Neurophysiol Div,Neuromuscular Sect, Kansas City, KS 66160 USA Univ Kansas, Med Ctr, Dept Neurol, Kansas City, KS 66160 USA

Jackson, Carlayne E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Texas Hlth Sci Ctr San Antonio, UT Med San Antonio, Div Neurol, San Antonio, TX 78229 USA Univ Kansas, Med Ctr, Dept Neurol, Kansas City, KS 66160 USA
[2]
Ceyhan-Birsoy Ozge, 2015, J Neuromuscul Dis, V2, P87
[3]
Dubowtiz VR, 2013, MUSCLE BIOPSY PRACTI
[4]
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
[J].
Liu, J
;
Aoki, M
;
Illa, I
;
Wu, CY
;
Fardeau, M
;
Angelini, C
;
Serrano, C
;
Urtizberea, JA
;
Hentati, F
;
Ben Hamida, M
;
Bohlega, S
;
Culper, EJ
;
Amato, AA
;
Bossie, K
;
Oeltjen, T
;
Bejaoui, K
;
McKenna-Yasek, D
;
Hosler, BA
;
Schurr, E
;
Arahata, K
;
de Jong, PJ
;
Brown, RH
.
NATURE GENETICS,
1998, 20 (01)
:31-36

Liu, J
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

Aoki, M
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

Illa, I
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

Wu, CY
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

Fardeau, M
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

Angelini, C
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

Serrano, C
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

Urtizberea, JA
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

Hentati, F
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

Ben Hamida, M
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

Bohlega, S
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

Culper, EJ
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

Amato, AA
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

Bossie, K
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

Oeltjen, T
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

Bejaoui, K
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

McKenna-Yasek, D
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

Hosler, BA
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

Schurr, E
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

Arahata, K
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

de Jong, PJ
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA

Brown, RH
论文数: 0 引用数: 0
h-index: 0
机构: Day Neuromuscular Res Lab, Charlestown, MA 02129 USA
[5]
Phenotypic study in 40 patients with dysferlin gene mutations -: High frequency of atypical phenotypes
[J].
Nguyen, Karine
;
Bassez, Guillaume
;
Krahn, Martin
;
Bernard, Rafaelle
;
Laforet, Pascal
;
Labelle, Veronique
;
Urtizberea, Jon Andoni
;
Figarella-Branger, Dominique
;
Romero, Norma
;
Attarian, Shahram
;
Leturcq, France
;
Pouget, Jean
;
Levy, Nicolas
;
Eymard, Bruno
.
ARCHIVES OF NEUROLOGY,
2007, 64 (08)
:1176-1182

Nguyen, Karine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Enfants La Timone, Assistance Publ Hop Marseille, Dept Med Genet, Marseille, France Hop Enfants La Timone, Assistance Publ Hop Marseille, Dept Med Genet, Marseille, France

Bassez, Guillaume
论文数: 0 引用数: 0
h-index: 0
机构: Hop Enfants La Timone, Assistance Publ Hop Marseille, Dept Med Genet, Marseille, France

Krahn, Martin
论文数: 0 引用数: 0
h-index: 0
机构: Hop Enfants La Timone, Assistance Publ Hop Marseille, Dept Med Genet, Marseille, France

Bernard, Rafaelle
论文数: 0 引用数: 0
h-index: 0
机构: Hop Enfants La Timone, Assistance Publ Hop Marseille, Dept Med Genet, Marseille, France

Laforet, Pascal
论文数: 0 引用数: 0
h-index: 0
机构: Hop Enfants La Timone, Assistance Publ Hop Marseille, Dept Med Genet, Marseille, France

Labelle, Veronique
论文数: 0 引用数: 0
h-index: 0
机构: Hop Enfants La Timone, Assistance Publ Hop Marseille, Dept Med Genet, Marseille, France

Urtizberea, Jon Andoni
论文数: 0 引用数: 0
h-index: 0
机构: Hop Enfants La Timone, Assistance Publ Hop Marseille, Dept Med Genet, Marseille, France

Figarella-Branger, Dominique
论文数: 0 引用数: 0
h-index: 0
机构: Hop Enfants La Timone, Assistance Publ Hop Marseille, Dept Med Genet, Marseille, France

Romero, Norma
论文数: 0 引用数: 0
h-index: 0
机构: Hop Enfants La Timone, Assistance Publ Hop Marseille, Dept Med Genet, Marseille, France

Attarian, Shahram
论文数: 0 引用数: 0
h-index: 0
机构: Hop Enfants La Timone, Assistance Publ Hop Marseille, Dept Med Genet, Marseille, France

Leturcq, France
论文数: 0 引用数: 0
h-index: 0
机构: Hop Enfants La Timone, Assistance Publ Hop Marseille, Dept Med Genet, Marseille, France

Pouget, Jean
论文数: 0 引用数: 0
h-index: 0
机构: Hop Enfants La Timone, Assistance Publ Hop Marseille, Dept Med Genet, Marseille, France

Levy, Nicolas
论文数: 0 引用数: 0
h-index: 0
机构: Hop Enfants La Timone, Assistance Publ Hop Marseille, Dept Med Genet, Marseille, France

Eymard, Bruno
论文数: 0 引用数: 0
h-index: 0
机构: Hop Enfants La Timone, Assistance Publ Hop Marseille, Dept Med Genet, Marseille, France
[6]
A new phenotype of dysferlinopathy with congenital onset
[J].
Paradas, C.
;
Gonzalez-Quereda, L.
;
De Luna, N.
;
Gallardo, E.
;
Garcia-Consuegra, I.
;
Gomez, H.
;
Cabello, A.
;
Illa, I.
;
Gallano, P.
.
NEUROMUSCULAR DISORDERS,
2009, 19 (01)
:21-25

Paradas, C.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Valme, Dept Neurol, Seville, Spain Univ Autonoma Barcelona, Dept Genet, Hosp Santa Creu & St Pau, Barcelona 08025, Spain

Gonzalez-Quereda, L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Autonoma Barcelona, Dept Genet, Hosp Santa Creu & St Pau, Barcelona 08025, Spain
CIBERER, Ctr Invest Red Enfermedades Raras, Barcelona, Spain Univ Autonoma Barcelona, Dept Genet, Hosp Santa Creu & St Pau, Barcelona 08025, Spain

De Luna, N.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Autonoma Barcelona, Dept Neurol, Hosp Santa Creu & St Pau, Barcelona 08025, Spain
CIBERNED, Ctr Invest Biomed Red Enfermedades Neurodegenerat, Barcelona, Spain Univ Autonoma Barcelona, Dept Genet, Hosp Santa Creu & St Pau, Barcelona 08025, Spain

Gallardo, E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Autonoma Barcelona, Dept Neurol, Hosp Santa Creu & St Pau, Barcelona 08025, Spain
CIBERNED, Ctr Invest Biomed Red Enfermedades Neurodegenerat, Barcelona, Spain Univ Autonoma Barcelona, Dept Genet, Hosp Santa Creu & St Pau, Barcelona 08025, Spain

Garcia-Consuegra, I.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Univ 12 Octubre, Neuropathol Sect, Dept Pathol, Madrid, Spain Univ Autonoma Barcelona, Dept Genet, Hosp Santa Creu & St Pau, Barcelona 08025, Spain

Gomez, H.
论文数: 0 引用数: 0
h-index: 0
机构:
Complejo Hosp Zafra Llerena, Dept Pediat, Badajoz, Spain Univ Autonoma Barcelona, Dept Genet, Hosp Santa Creu & St Pau, Barcelona 08025, Spain

Cabello, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Univ 12 Octubre, Neuropathol Sect, Dept Pathol, Madrid, Spain Univ Autonoma Barcelona, Dept Genet, Hosp Santa Creu & St Pau, Barcelona 08025, Spain

Illa, I.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Autonoma Barcelona, Dept Neurol, Hosp Santa Creu & St Pau, Barcelona 08025, Spain
CIBERNED, Ctr Invest Biomed Red Enfermedades Neurodegenerat, Barcelona, Spain Univ Autonoma Barcelona, Dept Genet, Hosp Santa Creu & St Pau, Barcelona 08025, Spain

Gallano, P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Autonoma Barcelona, Dept Genet, Hosp Santa Creu & St Pau, Barcelona 08025, Spain
CIBERER, Ctr Invest Red Enfermedades Raras, Barcelona, Spain Univ Autonoma Barcelona, Dept Genet, Hosp Santa Creu & St Pau, Barcelona 08025, Spain