共 7 条
[1]
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1
[J].
Biancheri, Roberta
;
Ciccolella, Marianna
;
Rossi, Andrea
;
Tessa, Alessandra
;
Cassandrini, Denise
;
Minetti, Carlo
;
Santorelli, Filippo M.
.
NEUROMUSCULAR DISORDERS,
2009, 19 (01)
:62-65

Biancheri, Roberta
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Genoa, Unit Muscular & Neurodegenerat Dis, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy
Univ Genoa, Unit Child Neurol & Psychiat, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy
Univ Genoa, Unit Neuroradiol, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy
IRCCS G Gaslini Pediat Inst, I-00165 Rome, Italy Univ Genoa, Unit Muscular & Neurodegenerat Dis, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy

Ciccolella, Marianna
论文数: 0 引用数: 0
h-index: 0
机构: Univ Genoa, Unit Muscular & Neurodegenerat Dis, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy

Rossi, Andrea
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Genoa, Unit Muscular & Neurodegenerat Dis, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy
Univ Genoa, Unit Child Neurol & Psychiat, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy
Univ Genoa, Unit Neuroradiol, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy
IRCCS G Gaslini Pediat Inst, I-00165 Rome, Italy Univ Genoa, Unit Muscular & Neurodegenerat Dis, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy

Tessa, Alessandra
论文数: 0 引用数: 0
h-index: 0
机构: Univ Genoa, Unit Muscular & Neurodegenerat Dis, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy

Cassandrini, Denise
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Genoa, Unit Muscular & Neurodegenerat Dis, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy
Univ Genoa, Unit Child Neurol & Psychiat, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy
Univ Genoa, Unit Neuroradiol, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy
IRCCS G Gaslini Pediat Inst, I-00165 Rome, Italy Univ Genoa, Unit Muscular & Neurodegenerat Dis, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy

Minetti, Carlo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Genoa, Unit Muscular & Neurodegenerat Dis, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy
Univ Genoa, Unit Child Neurol & Psychiat, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy
Univ Genoa, Unit Neuroradiol, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy
IRCCS G Gaslini Pediat Inst, I-00165 Rome, Italy Univ Genoa, Unit Muscular & Neurodegenerat Dis, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy

Santorelli, Filippo M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Genoa, Unit Muscular & Neurodegenerat Dis, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy Univ Genoa, Unit Muscular & Neurodegenerat Dis, IRCCS Bambino Gesu Childrens Hosp, I-00165 Rome, Italy
[2]
Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study
[J].
Criscuolo, Chiara
;
Filla, Alessandro
;
Coppola, Giovanni
;
Rinaldi, Carlo
;
Carbone, Rosa
;
Pinto, Stefano
;
Wang, Qing
;
de Leva, Maria Fulvia
;
Salvatore, Elena
;
Banfi, Sandro
;
Brunetti, Arturo
;
Quarantelli, Mario
;
Geschwind, Daniel H.
;
Pappata, Sabina
;
De Michele, Giuseppe
.
JOURNAL OF NEUROLOGY,
2009, 256 (08)
:1252-1257

论文数: 引用数:
h-index:
机构:

论文数: 引用数:
h-index:
机构:

Coppola, Giovanni
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, Dept Neurol, Program Neurogenet, Los Angeles, CA 90024 USA
Univ Calif Los Angeles, Semel Inst, Los Angeles, CA USA Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, Italy

论文数: 引用数:
h-index:
机构:

论文数: 引用数:
h-index:
机构:

Pinto, Stefano
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, Italy Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, Italy

Wang, Qing
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, Dept Neurol, Program Neurogenet, Los Angeles, CA 90024 USA
Univ Calif Los Angeles, Semel Inst, Los Angeles, CA USA Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, Italy

de Leva, Maria Fulvia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, Italy Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, Italy

论文数: 引用数:
h-index:
机构:

Banfi, Sandro
论文数: 0 引用数: 0
h-index: 0
机构:
Telethon Inst Genet & Med, Naples, Italy Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, Italy

Brunetti, Arturo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Naples Federico II, Dept Biomorphol & Funct Sci, Biostruct & Bioimaging Inst, Natl Res Council, I-80131 Naples, Italy Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, Italy

Quarantelli, Mario
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Naples Federico II, Dept Biomorphol & Funct Sci, Biostruct & Bioimaging Inst, Natl Res Council, I-80131 Naples, Italy Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, Italy

Geschwind, Daniel H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, Dept Neurol, Program Neurogenet, Los Angeles, CA 90024 USA
Univ Calif Los Angeles, Semel Inst, Los Angeles, CA USA Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, Italy

Pappata, Sabina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Naples Federico II, Dept Biomorphol & Funct Sci, Biostruct & Bioimaging Inst, Natl Res Council, I-80131 Naples, Italy Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, Italy

De Michele, Giuseppe
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, Italy Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, Italy
[3]
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5
[J].
Goizet, Cyril
;
Boukhris, Amir
;
Durr, Alexandra
;
Beetz, Christian
;
Truchetto, Jeremy
;
Tesson, Christelle
;
Tsaousidou, Maria
;
Forlani, Sylvie
;
Guyant-Marechal, Lucie
;
Fontaine, Bertrand
;
Guimaraes, Joao
;
Isidor, Bertrand
;
Chazouilleres, Olivier
;
Wendum, Dominique
;
Grid, Djamel
;
Chevy, Francoise
;
Chinnery, Patrick F.
;
Coutinho, Paula
;
Azulay, Jean-Philippe
;
Feki, Imed
;
Mochel, Fanny
;
Wolf, Claude
;
Mhiri, Chokri
;
Crosby, Andrew
;
Brice, Alexis
;
Stevanin, Giovanni
.
BRAIN,
2009, 132
:1589-1600

Goizet, Cyril
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, UMR S975, Paris, France
Univ Bordeaux 2, Lab Genet Humaine, F-33076 Bordeaux, France INSERM, UMR S975, Paris, France

Boukhris, Amir
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, UMR S975, Paris, France
Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France
Hop Univ Habib Bourguiba, Serv Neurol, Sfax, Tunisia INSERM, UMR S975, Paris, France

Durr, Alexandra
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, UMR S975, Paris, France
Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France INSERM, UMR S975, Paris, France

Beetz, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Jena, D-6900 Jena, Germany INSERM, UMR S975, Paris, France

Truchetto, Jeremy
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, UMR S975, Paris, France INSERM, UMR S975, Paris, France

Tesson, Christelle
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, UMR S975, Paris, France INSERM, UMR S975, Paris, France

Tsaousidou, Maria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ London, Dept Med Genet, London, England INSERM, UMR S975, Paris, France

Forlani, Sylvie
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, UMR S975, Paris, France INSERM, UMR S975, Paris, France

Guyant-Marechal, Lucie
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Rouen, Serv Neurol, Rouen, France INSERM, UMR S975, Paris, France

Fontaine, Bertrand
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U546, Paris, France INSERM, UMR S975, Paris, France

Guimaraes, Joao
论文数: 0 引用数: 0
h-index: 0
机构:
British Hosp, Lisbon, Portugal INSERM, UMR S975, Paris, France

Isidor, Bertrand
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nantes, Serv Genet Med, F-44035 Nantes 01, France INSERM, UMR S975, Paris, France

Chazouilleres, Olivier
论文数: 0 引用数: 0
h-index: 0
机构:
Hop St Antoine, AP HP, Serv Hepatol, F-75571 Paris, France INSERM, UMR S975, Paris, France

Wendum, Dominique
论文数: 0 引用数: 0
h-index: 0
机构:
Fac Med Pierre & Marie Curie, Hop St Antoine, AP HP, Serv Anat Patol, F-75571 Paris, France INSERM, UMR S975, Paris, France

Grid, Djamel
论文数: 0 引用数: 0
h-index: 0
机构:
Genethon, Evry, France INSERM, UMR S975, Paris, France

Chevy, Francoise
论文数: 0 引用数: 0
h-index: 0
机构:
UPMC, INSERM, Serv Commun Spectrometrie Masse, Paris, France INSERM, UMR S975, Paris, France

Chinnery, Patrick F.
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Gen Hosp, Inst Human Genet, Newcastle Upon Tyne, Tyne & Wear, England INSERM, UMR S975, Paris, France

Coutinho, Paula
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp S Sebastiao, Santa Maria Feira, Portugal INSERM, UMR S975, Paris, France

Azulay, Jean-Philippe
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Enfants La Timone, Serv Neurol & Pathol Mouvement, F-13385 Marseille 05, France INSERM, UMR S975, Paris, France

Feki, Imed
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Habib Bourguiba, Serv Neurol, Sfax, Tunisia INSERM, UMR S975, Paris, France

Mochel, Fanny
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, UMR S975, Paris, France INSERM, UMR S975, Paris, France

Wolf, Claude
论文数: 0 引用数: 0
h-index: 0
机构:
UPMC, INSERM, Serv Commun Spectrometrie Masse, Paris, France INSERM, UMR S975, Paris, France

Mhiri, Chokri
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Habib Bourguiba, Serv Neurol, Sfax, Tunisia INSERM, UMR S975, Paris, France

论文数: 引用数:
h-index:
机构:

Brice, Alexis
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, UMR S975, Paris, France
Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France INSERM, UMR S975, Paris, France

Stevanin, Giovanni
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, UMR S975, Paris, France
UPMC, INSERM, Pitie Salpetriere Hosp,UMR S 975, CNRS 7225,CRicm,U679, F-75651 Paris 13, France
Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France INSERM, UMR S975, Paris, France
[4]
HARDING AE, 1983, LANCET, V1, P1151
[5]
Pure hereditary spastic paraplegia
[J].
Reid, E
.
JOURNAL OF MEDICAL GENETICS,
1997, 34 (06)
:499-503

Reid, E
论文数: 0 引用数: 0
h-index: 0
[6]
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia
[J].
Schuele, Rebecca
;
Brandt, Elisabeth
;
Karle, Kathrin N.
;
Tsaousidou, Maria
;
Klebe, Stephan
;
Klimpe, Sven
;
Auer-Grumbach, Michaela
;
Crosby, Andrew H.
;
Huebner, Christian A.
;
Schoels, Ludger
;
Deufel, Thomas
;
Beetz, Christian
.
NEUROGENETICS,
2009, 10 (02)
:97-104

Schuele, Rebecca
论文数: 0 引用数: 0
h-index: 0
机构:
Hertie Inst Klin Hirnforsch, Sekt Klin Neurogenet, Tubingen, Germany Univ Jena, Inst Klin Chem & Lab Diagnost, D-07747 Jena, Germany

Brandt, Elisabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Jena, Inst Klin Chem & Lab Diagnost, D-07747 Jena, Germany Univ Jena, Inst Klin Chem & Lab Diagnost, D-07747 Jena, Germany

Karle, Kathrin N.
论文数: 0 引用数: 0
h-index: 0
机构:
Hertie Inst Klin Hirnforsch, Sekt Klin Neurogenet, Tubingen, Germany Univ Jena, Inst Klin Chem & Lab Diagnost, D-07747 Jena, Germany

Tsaousidou, Maria
论文数: 0 引用数: 0
h-index: 0
机构:
St Georges Univ, Dept Med Genet, London, England Univ Jena, Inst Klin Chem & Lab Diagnost, D-07747 Jena, Germany

Klebe, Stephan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Klinikum Schleswig Holstein, Neurol Klin, Kiel, Germany Univ Jena, Inst Klin Chem & Lab Diagnost, D-07747 Jena, Germany

Klimpe, Sven
论文数: 0 引用数: 0
h-index: 0
机构:
Johannes Gutenberg Univ Mainz, Neurol Klin, Mainz, Germany Univ Jena, Inst Klin Chem & Lab Diagnost, D-07747 Jena, Germany

Auer-Grumbach, Michaela
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ, Inst Humangenet, Graz, Austria
Med Univ, Zentrum Med Forsch, Graz, Austria Univ Jena, Inst Klin Chem & Lab Diagnost, D-07747 Jena, Germany

Crosby, Andrew H.
论文数: 0 引用数: 0
h-index: 0
机构:
St Georges Univ, Dept Med Genet, London, England Univ Jena, Inst Klin Chem & Lab Diagnost, D-07747 Jena, Germany

Huebner, Christian A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Jena, Inst Klin Chem & Lab Diagnost, D-07747 Jena, Germany Univ Jena, Inst Klin Chem & Lab Diagnost, D-07747 Jena, Germany

Schoels, Ludger
论文数: 0 引用数: 0
h-index: 0
机构:
Hertie Inst Klin Hirnforsch, Sekt Klin Neurogenet, Tubingen, Germany Univ Jena, Inst Klin Chem & Lab Diagnost, D-07747 Jena, Germany

Deufel, Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Jena, Inst Klin Chem & Lab Diagnost, D-07747 Jena, Germany Univ Jena, Inst Klin Chem & Lab Diagnost, D-07747 Jena, Germany

Beetz, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Jena, Inst Klin Chem & Lab Diagnost, D-07747 Jena, Germany Univ Jena, Inst Klin Chem & Lab Diagnost, D-07747 Jena, Germany
[7]
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration
[J].
Tsaousidou, Maria K.
;
Ouahchi, Karim
;
Warner, Tom T.
;
Yang, Yi
;
Simpson, Michael A.
;
Laing, Nigel G.
;
Wilkinson, Philip A.
;
Madrid, Ricardo E.
;
Patel, Heema
;
Hentati, Faycal
;
Patton, Michael A.
;
Hentati, Afif
;
Lamont, Philippa J.
;
Siddique, Teepu
;
Crosby, Andrew H.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2008, 82 (02)
:510-515

Tsaousidou, Maria K.
论文数: 0 引用数: 0
h-index: 0
机构:
St Georges Univ London, London SW17 0RE, England St Georges Univ London, London SW17 0RE, England

Ouahchi, Karim
论文数: 0 引用数: 0
h-index: 0
机构:
Northwestern Univ, Feinberg Sch Med, Davee Dept Neurol & Clin Neurol Sci, Chicago, IL 60611 USA St Georges Univ London, London SW17 0RE, England

Warner, Tom T.
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Neurol, Dept Clin Neurosci, London NW3 2PF, England St Georges Univ London, London SW17 0RE, England

Yang, Yi
论文数: 0 引用数: 0
h-index: 0
机构:
Northwestern Univ, Feinberg Sch Med, Davee Dept Neurol & Clin Neurol Sci, Chicago, IL 60611 USA St Georges Univ London, London SW17 0RE, England

Simpson, Michael A.
论文数: 0 引用数: 0
h-index: 0
机构:
St Georges Univ London, London SW17 0RE, England St Georges Univ London, London SW17 0RE, England

Laing, Nigel G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Australia, Med Res Ctr, QEII Med Ctr, Nedlands, WA 6009, Australia St Georges Univ London, London SW17 0RE, England

Wilkinson, Philip A.
论文数: 0 引用数: 0
h-index: 0
机构:
St Georges Univ London, London SW17 0RE, England
Inst Neurol, Dept Clin Neurosci, London NW3 2PF, England St Georges Univ London, London SW17 0RE, England

Madrid, Ricardo E.
论文数: 0 引用数: 0
h-index: 0
机构:
New York State Inst Basic Res Dev Disabil, George A Jervis Clin, Staten Isl, NY 10314 USA St Georges Univ London, London SW17 0RE, England

Patel, Heema
论文数: 0 引用数: 0
h-index: 0
机构:
St Georges Univ London, London SW17 0RE, England St Georges Univ London, London SW17 0RE, England

Hentati, Faycal
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Natl Neurol, Tunis 1007, Tunisia St Georges Univ London, London SW17 0RE, England

Patton, Michael A.
论文数: 0 引用数: 0
h-index: 0
机构:
St Georges Univ London, London SW17 0RE, England St Georges Univ London, London SW17 0RE, England

Hentati, Afif
论文数: 0 引用数: 0
h-index: 0
机构:
Dept Neurol, Evanston, IL 60201 USA St Georges Univ London, London SW17 0RE, England

Lamont, Philippa J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Australia, Med Res Ctr, QEII Med Ctr, Nedlands, WA 6009, Australia St Georges Univ London, London SW17 0RE, England

Siddique, Teepu
论文数: 0 引用数: 0
h-index: 0
机构:
Northwestern Univ, Feinberg Sch Med, Davee Dept Neurol & Clin Neurol Sci, Chicago, IL 60611 USA
Northwestern Univ, Feinberg Sch Med, Dept Cell & Cell & Mol Biol, Chicago, IL 60611 USA St Georges Univ London, London SW17 0RE, England

Crosby, Andrew H.
论文数: 0 引用数: 0
h-index: 0
机构:
St Georges Univ London, London SW17 0RE, England St Georges Univ London, London SW17 0RE, England