共 50 条
[11]
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis
[J].
Reinhardt, K.
;
Grapp, M.
;
Schlachter, K.
;
Brueck, W.
;
Gaertner, J.
;
Steinfeld, R.
.
CLINICAL GENETICS,
2010, 77 (01)
:79-85

Reinhardt, K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gottingen, Dept Pediat & Pediat Neurol, D-37075 Gottingen, Germany Univ Gottingen, Dept Pediat & Pediat Neurol, D-37075 Gottingen, Germany

Grapp, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gottingen, Dept Pediat & Pediat Neurol, D-37075 Gottingen, Germany Univ Gottingen, Dept Pediat & Pediat Neurol, D-37075 Gottingen, Germany

Schlachter, K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gottingen, Dept Neuropathol, D-37075 Gottingen, Germany Univ Gottingen, Dept Pediat & Pediat Neurol, D-37075 Gottingen, Germany

Brueck, W.
论文数: 0 引用数: 0
h-index: 0
机构:
Landeskrankenhaus LKH, Dept Pediat & Pediat Neurol, Bregenz, Austria Univ Gottingen, Dept Pediat & Pediat Neurol, D-37075 Gottingen, Germany

Gaertner, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gottingen, Dept Pediat & Pediat Neurol, D-37075 Gottingen, Germany Univ Gottingen, Dept Pediat & Pediat Neurol, D-37075 Gottingen, Germany

Steinfeld, R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gottingen, Dept Pediat & Pediat Neurol, D-37075 Gottingen, Germany Univ Gottingen, Dept Pediat & Pediat Neurol, D-37075 Gottingen, Germany
[12]
UNRAVELING CLN7 disease: the distinct roles of two close MFSD8/CLN7 splice variants in phenotypic expression
[J].
Venier, Ana Clara
;
Savy, Sofia
;
Carro, Gerardo
;
Guelbert, Guillermo
;
Grondona, Ezequiel
;
Guelbert, Norberto
;
Nicola, Juan Pablo
;
Pesaola, Favio
;
De Paul, Ana Lucia
.
HUMAN MOLECULAR GENETICS,
2025, 34 (13)
:1157-1167

Venier, Ana Clara
论文数: 0 引用数: 0
h-index: 0
机构:
Consejo Nacl Invest Cient & Tecn CONICET, Inst Invest Ciencias Salud INICSA, Blvd Reformay Enfermera Gordillo,X5016, Cordoba, Argentina
Univ Nacl Cordoba, Fac Ciencias Med, Ctr Microscopia Elect, Blvd Reforma & Enfermera Gordillo,X5016, Cordoba, Argentina
Hosp Ninos Santisima Trin, Programa Invest Translac Lipofuscinosis Ceroidea N, Ferroviarios 1250,X5014, Cordoba, Argentina Consejo Nacl Invest Cient & Tecn CONICET, Inst Invest Ciencias Salud INICSA, Blvd Reformay Enfermera Gordillo,X5016, Cordoba, Argentina

Savy, Sofia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Nacl Cordoba, Fac Ciencias Quim, Dept Bioquim Clin, Medina Allende S-N,X5000, Cordoba, Argentina
Consejo Nacl Invest Cient & Tecn CIB CONICET, Ctr Invest Bioquim Clin Inmunol, Medina Allende S-N,X5000, Cordoba, Argentina Consejo Nacl Invest Cient & Tecn CONICET, Inst Invest Ciencias Salud INICSA, Blvd Reformay Enfermera Gordillo,X5016, Cordoba, Argentina

Carro, Gerardo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Nacl Cordoba, Fac Ciencias Quim, Dept Bioquim Clin, Medina Allende S-N,X5000, Cordoba, Argentina
Consejo Nacl Invest Cient & Tecn CIB CONICET, Ctr Invest Bioquim Clin Inmunol, Medina Allende S-N,X5000, Cordoba, Argentina Consejo Nacl Invest Cient & Tecn CONICET, Inst Invest Ciencias Salud INICSA, Blvd Reformay Enfermera Gordillo,X5016, Cordoba, Argentina

Guelbert, Guillermo
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Ninos Santisima Trin, Programa Invest Translac Lipofuscinosis Ceroidea N, Ferroviarios 1250,X5014, Cordoba, Argentina
Hosp Ninos Santisima Trin, Serv Enfermedades Metab Hereditarias, Ferroviarios 1250,X5014, Cordoba, Argentina Consejo Nacl Invest Cient & Tecn CONICET, Inst Invest Ciencias Salud INICSA, Blvd Reformay Enfermera Gordillo,X5016, Cordoba, Argentina

Grondona, Ezequiel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Nacl Cordoba, Fac Ciencias Med, Ctr Microscopia Elect, Blvd Reforma & Enfermera Gordillo,X5016, Cordoba, Argentina Consejo Nacl Invest Cient & Tecn CONICET, Inst Invest Ciencias Salud INICSA, Blvd Reformay Enfermera Gordillo,X5016, Cordoba, Argentina

Guelbert, Norberto
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Ninos Santisima Trin, Programa Invest Translac Lipofuscinosis Ceroidea N, Ferroviarios 1250,X5014, Cordoba, Argentina
Univ Catolica Cordoba, Serv Enfermedades Metab Hereditarias, Clin Univ Reina Fabiola, Oncativo 1248,X5004, Cordoba, Argentina Consejo Nacl Invest Cient & Tecn CONICET, Inst Invest Ciencias Salud INICSA, Blvd Reformay Enfermera Gordillo,X5016, Cordoba, Argentina

Nicola, Juan Pablo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Nacl Cordoba, Fac Ciencias Quim, Dept Bioquim Clin, Medina Allende S-N,X5000, Cordoba, Argentina
Consejo Nacl Invest Cient & Tecn CIB CONICET, Ctr Invest Bioquim Clin Inmunol, Medina Allende S-N,X5000, Cordoba, Argentina Consejo Nacl Invest Cient & Tecn CONICET, Inst Invest Ciencias Salud INICSA, Blvd Reformay Enfermera Gordillo,X5016, Cordoba, Argentina

Pesaola, Favio
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Ninos Santisima Trin, Programa Invest Translac Lipofuscinosis Ceroidea N, Ferroviarios 1250,X5014, Cordoba, Argentina
Washington Univ St Louis, Sch Med, Dept Pediat, 60 S Euclid Ave, St Louis, MO 63110 USA Consejo Nacl Invest Cient & Tecn CONICET, Inst Invest Ciencias Salud INICSA, Blvd Reformay Enfermera Gordillo,X5016, Cordoba, Argentina

De Paul, Ana Lucia
论文数: 0 引用数: 0
h-index: 0
机构:
Consejo Nacl Invest Cient & Tecn CONICET, Inst Invest Ciencias Salud INICSA, Blvd Reformay Enfermera Gordillo,X5016, Cordoba, Argentina
Univ Nacl Cordoba, Fac Ciencias Med, Ctr Microscopia Elect, Blvd Reforma & Enfermera Gordillo,X5016, Cordoba, Argentina
Univ Catolica Cordoba, Serv Enfermedades Metab Hereditarias, Clin Univ Reina Fabiola, Oncativo 1248,X5004, Cordoba, Argentina Consejo Nacl Invest Cient & Tecn CONICET, Inst Invest Ciencias Salud INICSA, Blvd Reformay Enfermera Gordillo,X5016, Cordoba, Argentina
[13]
Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas
[J].
Ashwini, Akanksha
;
D'Angelo, Antonio
;
Yamato, Osamu
;
Giordano, Cristina
;
Cagnotti, Giulia
;
Harcourt-Brown, Tom
;
Mhlanga-Mutangadura, Tendai
;
Guo, Juyuan
;
Johnson, Gary S.
;
Katz, Martin L.
.
MOLECULAR GENETICS AND METABOLISM,
2016, 118 (04)
:326-332

Ashwini, Akanksha
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Missouri, Dept Vet Pathobiol, Columbia, MO USA Univ Missouri, Dept Vet Pathobiol, Columbia, MO USA

D'Angelo, Antonio
论文数: 0 引用数: 0
h-index: 0
机构:
Sch Vet Med, Dept Vet Sci, Turin, Italy Univ Missouri, Dept Vet Pathobiol, Columbia, MO USA

Yamato, Osamu
论文数: 0 引用数: 0
h-index: 0
机构:
Kagoshima Univ, Dept Vet Med, Kagoshima 8900065, Japan Univ Missouri, Dept Vet Pathobiol, Columbia, MO USA

Giordano, Cristina
论文数: 0 引用数: 0
h-index: 0
机构:
Sch Vet Med, Dept Vet Sci, Turin, Italy Univ Missouri, Dept Vet Pathobiol, Columbia, MO USA

Cagnotti, Giulia
论文数: 0 引用数: 0
h-index: 0
机构:
Sch Vet Med, Dept Vet Sci, Turin, Italy Univ Missouri, Dept Vet Pathobiol, Columbia, MO USA

Harcourt-Brown, Tom
论文数: 0 引用数: 0
h-index: 0
机构:
Langford Vet Serv, Bristol, Avon, England Univ Missouri, Dept Vet Pathobiol, Columbia, MO USA

Mhlanga-Mutangadura, Tendai
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Missouri, Dept Vet Pathobiol, Columbia, MO USA Univ Missouri, Dept Vet Pathobiol, Columbia, MO USA

Guo, Juyuan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Missouri, Dept Vet Pathobiol, Columbia, MO USA Univ Missouri, Dept Vet Pathobiol, Columbia, MO USA

Johnson, Gary S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Missouri, Dept Vet Pathobiol, Columbia, MO USA Univ Missouri, Dept Vet Pathobiol, Columbia, MO USA

Katz, Martin L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Missouri, Sch Med, Dept Ophthalmol, One Hosp Dr, Columbia, MO 65212 USA Univ Missouri, Dept Vet Pathobiol, Columbia, MO USA
[14]
Heterogeneity of late-infantile neuronal ceroid lipofuscinosis
[J].
Zhong, N
;
Moroziewicz, DN
;
Ju, WN
;
Jurkiewicz, A
;
Johnston, L
;
Wisniewski, KE
;
Brown, WT
.
GENETICS IN MEDICINE,
2000, 2 (06)
:312-318

Zhong, N
论文数: 0 引用数: 0
h-index: 0
机构: New York State Inst Basic Res Dev Disabil, Mol Neurogenet Diagnost Lab, Staten Isl, NY 10314 USA

Moroziewicz, DN
论文数: 0 引用数: 0
h-index: 0
机构: New York State Inst Basic Res Dev Disabil, Mol Neurogenet Diagnost Lab, Staten Isl, NY 10314 USA

Ju, WN
论文数: 0 引用数: 0
h-index: 0
机构: New York State Inst Basic Res Dev Disabil, Mol Neurogenet Diagnost Lab, Staten Isl, NY 10314 USA

Jurkiewicz, A
论文数: 0 引用数: 0
h-index: 0
机构: New York State Inst Basic Res Dev Disabil, Mol Neurogenet Diagnost Lab, Staten Isl, NY 10314 USA

Johnston, L
论文数: 0 引用数: 0
h-index: 0
机构: New York State Inst Basic Res Dev Disabil, Mol Neurogenet Diagnost Lab, Staten Isl, NY 10314 USA

Wisniewski, KE
论文数: 0 引用数: 0
h-index: 0
机构: New York State Inst Basic Res Dev Disabil, Mol Neurogenet Diagnost Lab, Staten Isl, NY 10314 USA

Brown, WT
论文数: 0 引用数: 0
h-index: 0
机构: New York State Inst Basic Res Dev Disabil, Mol Neurogenet Diagnost Lab, Staten Isl, NY 10314 USA
[15]
Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis
[J].
Teixeira, CA
;
Espinola, J
;
Huo, L
;
Kohlschütter, J
;
Sawin, DAP
;
Minassian, B
;
Bessa, CJP
;
Guimaraes, A
;
Stephan, DA
;
Miranda, MCS
;
MacDonald, ME
;
Ribeiro, MG
;
Boustany, RMN
.
HUMAN MUTATION,
2003, 21 (05)
:502-508

Teixeira, CA
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA

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

Huo, L
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA

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

Sawin, DAP
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA

Minassian, B
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA

Bessa, CJP
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA

Guimaraes, A
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA

Stephan, DA
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA

Miranda, MCS
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA

MacDonald, ME
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA

Ribeiro, MG
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA

Boustany, RMN
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA
[16]
Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene
[J].
Mandel, Hanna
;
Katsanelson, Ksenya Cohen
;
Khayat, Morad
;
Chervinsky, Ilana
;
Vladovski, Eugene
;
Iancu, Theodor C.
;
Indelman, Margarita
;
Horovitz, Yoseph
;
Sprecher, Eli
;
Shalev, Stavit A.
;
Spiegel, Ronen
.
EUROPEAN JOURNAL OF MEDICAL GENETICS,
2014, 57 (11-12)
:607-612

Mandel, Hanna
论文数: 0 引用数: 0
h-index: 0
机构:
Rambam Med Ctr, Metab Unit, Haifa, Israel
Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel Rambam Med Ctr, Metab Unit, Haifa, Israel

Katsanelson, Ksenya Cohen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Dept Pharmacol, San Diego, CA 92103 USA Rambam Med Ctr, Metab Unit, Haifa, Israel

Khayat, Morad
论文数: 0 引用数: 0
h-index: 0
机构:
Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel
Emek Med Ctr, Genet Inst, IL-18101 Afula, Israel Rambam Med Ctr, Metab Unit, Haifa, Israel

Chervinsky, Ilana
论文数: 0 引用数: 0
h-index: 0
机构:
Emek Med Ctr, Genet Inst, IL-18101 Afula, Israel Rambam Med Ctr, Metab Unit, Haifa, Israel

Vladovski, Eugene
论文数: 0 引用数: 0
h-index: 0
机构:
Rambam Med Ctr, Dept Pathol, Haifa, Israel Rambam Med Ctr, Metab Unit, Haifa, Israel

Iancu, Theodor C.
论文数: 0 引用数: 0
h-index: 0
机构:
Milman David Biomed Res Unit, Haifa, Israel Rambam Med Ctr, Metab Unit, Haifa, Israel

Indelman, Margarita
论文数: 0 引用数: 0
h-index: 0
机构:
Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel
Rambam Med Ctr, Dept Dermatol, Haifa, Israel Rambam Med Ctr, Metab Unit, Haifa, Israel

Horovitz, Yoseph
论文数: 0 引用数: 0
h-index: 0
机构:
Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel
Emek Med Ctr, Dept Pediat A, IL-18101 Afula, Israel Rambam Med Ctr, Metab Unit, Haifa, Israel

Sprecher, Eli
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Sourasky Med Ctr, Dept Dermatol, Tel Aviv, Israel
Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, IL-69978 Tel Aviv, Israel Rambam Med Ctr, Metab Unit, Haifa, Israel

Shalev, Stavit A.
论文数: 0 引用数: 0
h-index: 0
机构:
Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel
Emek Med Ctr, Genet Inst, IL-18101 Afula, Israel Rambam Med Ctr, Metab Unit, Haifa, Israel

Spiegel, Ronen
论文数: 0 引用数: 0
h-index: 0
机构:
Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel
Emek Med Ctr, Dept Pediat A, IL-18101 Afula, Israel Rambam Med Ctr, Metab Unit, Haifa, Israel
[17]
Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease
[J].
Damme, Markus
;
Brandenstein, Laura
;
Fehr, Susanne
;
Jankowiak, Wanda
;
Bartsch, Udo
;
Schweizer, Michaela
;
Hermans-Borgmeyer, Irm
;
Storch, Stephan
.
NEUROBIOLOGY OF DISEASE,
2014, 65
:12-24

Damme, Markus
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bielefeld, Dept Chem, D-33615 Bielefeld, Germany Univ Bielefeld, Dept Chem, D-33615 Bielefeld, Germany

Brandenstein, Laura
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Hamburg Eppendorf, Childrens Hosp, Dept Biochem, D-20246 Hamburg, Germany Univ Bielefeld, Dept Chem, D-33615 Bielefeld, Germany

Fehr, Susanne
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Hamburg Eppendorf, ZMNH, Ctr Mol Neurobiol Hamburg, D-20246 Hamburg, Germany Univ Bielefeld, Dept Chem, D-33615 Bielefeld, Germany

Jankowiak, Wanda
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Hamburg Eppendorf, Dept Ophthalmol, D-20246 Hamburg, Germany Univ Bielefeld, Dept Chem, D-33615 Bielefeld, Germany

Bartsch, Udo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Hamburg Eppendorf, Dept Ophthalmol, D-20246 Hamburg, Germany Univ Bielefeld, Dept Chem, D-33615 Bielefeld, Germany

Schweizer, Michaela
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Hamburg Eppendorf, ZMNH, Ctr Mol Neurobiol Hamburg, D-20246 Hamburg, Germany Univ Bielefeld, Dept Chem, D-33615 Bielefeld, Germany

Hermans-Borgmeyer, Irm
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Hamburg Eppendorf, ZMNH, Ctr Mol Neurobiol Hamburg, D-20246 Hamburg, Germany Univ Bielefeld, Dept Chem, D-33615 Bielefeld, Germany

Storch, Stephan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Hamburg Eppendorf, Childrens Hosp, Dept Biochem, D-20246 Hamburg, Germany Univ Bielefeld, Dept Chem, D-33615 Bielefeld, Germany
[18]
Progress toward positional cloning of ovine neuronal ceroid lipofuscinosis, a model of the human late-infantile variant CLN6
[J].
Broom, MF
;
Zhou, CM
;
Hill, DF
.
MOLECULAR GENETICS AND METABOLISM,
1999, 66 (04)
:373-375

Broom, MF
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Otago, Dept Biochem, Mol Biol Unit, Dunedin, New Zealand Univ Otago, Dept Biochem, Mol Biol Unit, Dunedin, New Zealand

Zhou, CM
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Otago, Dept Biochem, Mol Biol Unit, Dunedin, New Zealand Univ Otago, Dept Biochem, Mol Biol Unit, Dunedin, New Zealand

Hill, DF
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Otago, Dept Biochem, Mol Biol Unit, Dunedin, New Zealand Univ Otago, Dept Biochem, Mol Biol Unit, Dunedin, New Zealand
[19]
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy
[J].
Khan, Kamron N.
;
El-Asrag, Mohammed E.
;
Ku, Cristy A.
;
Holder, Graham E.
;
McKibbin, Martin
;
Arno, Gavin
;
Poulter, James A.
;
Carss, Keren
;
Bommireddy, Tejaswi
;
Bagheri, Saghar
;
Bakall, Benjamin
;
Scholl, Hendrik P.
;
Raymond, F. Lucy
;
Toomes, Carmel
;
Inglehearn, Chris F.
;
Pennesi, Mark E.
;
Moore, Anthony T.
;
Michaelides, Michel
;
Webster, Andrew R.
;
Ali, Manir
.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE,
2017, 58 (07)
:2906-2914

Khan, Kamron N.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Ophthalmol, London, England
Moorfields Eye Hosp, Inherited Eye Dis Serv, London, England
Univ Leeds, St Jamess Univ Hosp, Leeds Inst Biomed & Clin Sci, Sect Ophthalmol & Neurosci, Leeds, W Yorkshire, England
St James Univ Hosp, Dept Ophthalmol, Leeds, W Yorkshire, England UCL, Inst Ophthalmol, London, England

El-Asrag, Mohammed E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, St Jamess Univ Hosp, Leeds Inst Biomed & Clin Sci, Sect Ophthalmol & Neurosci, Leeds, W Yorkshire, England
Benha Univ, Dept Zool, Fac Sci, Banha, Egypt UCL, Inst Ophthalmol, London, England

Ku, Cristy A.
论文数: 0 引用数: 0
h-index: 0
机构:
Oregon Hlth & Sci Univ, Casey Eye Inst, Portland, OR 97201 USA UCL, Inst Ophthalmol, London, England

Holder, Graham E.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Ophthalmol, London, England
Moorfields Eye Hosp, Inherited Eye Dis Serv, London, England
Moorfields Eye Hosp, Dept Electrophysiol, London, England UCL, Inst Ophthalmol, London, England

McKibbin, Martin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, St Jamess Univ Hosp, Leeds Inst Biomed & Clin Sci, Sect Ophthalmol & Neurosci, Leeds, W Yorkshire, England
St James Univ Hosp, Dept Ophthalmol, Leeds, W Yorkshire, England UCL, Inst Ophthalmol, London, England

Arno, Gavin
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Ophthalmol, London, England UCL, Inst Ophthalmol, London, England

Poulter, James A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, St Jamess Univ Hosp, Leeds Inst Biomed & Clin Sci, Sect Ophthalmol & Neurosci, Leeds, W Yorkshire, England UCL, Inst Ophthalmol, London, England

Carss, Keren
论文数: 0 引用数: 0
h-index: 0
机构:
Cambridge Univ Hosp, Natl Inst Hlth Res BioResource Rare Dis, Cambridge Biomed Campus, Cambridge, England
Univ Cambridge, Dept Haematol, Cambridge, England UCL, Inst Ophthalmol, London, England

Bommireddy, Tejaswi
论文数: 0 引用数: 0
h-index: 0
机构:
St James Univ Hosp, Dept Ophthalmol, Leeds, W Yorkshire, England UCL, Inst Ophthalmol, London, England

Bagheri, Saghar
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Wilmer Eye Inst, Baltimore, MD 21218 USA UCL, Inst Ophthalmol, London, England

Bakall, Benjamin
论文数: 0 引用数: 0
h-index: 0
机构:
Associated Retina Consultants, Phoenix, AZ USA
Univ Arizona, Coll Med, Phoenix, AZ USA UCL, Inst Ophthalmol, London, England

Scholl, Hendrik P.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Wilmer Eye Inst, Baltimore, MD 21218 USA UCL, Inst Ophthalmol, London, England

Raymond, F. Lucy
论文数: 0 引用数: 0
h-index: 0
机构:
Cambridge Univ Hosp, Natl Inst Hlth Res BioResource Rare Dis, Cambridge Biomed Campus, Cambridge, England
Univ Cambridge, Cambridge Inst Med Res, Dept Med Genet, Cambridge, England UCL, Inst Ophthalmol, London, England

Toomes, Carmel
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Ophthalmol, London, England

Inglehearn, Chris F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, St Jamess Univ Hosp, Leeds Inst Biomed & Clin Sci, Sect Ophthalmol & Neurosci, Leeds, W Yorkshire, England UCL, Inst Ophthalmol, London, England

Pennesi, Mark E.
论文数: 0 引用数: 0
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机构:
Oregon Hlth & Sci Univ, Casey Eye Inst, Portland, OR 97201 USA UCL, Inst Ophthalmol, London, England

Moore, Anthony T.
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h-index: 0
机构:
UCL, Inst Ophthalmol, London, England
Moorfields Eye Hosp, Inherited Eye Dis Serv, London, England
Univ Calif San Francisco, Sch Med, Dept Ophthalmol, San Francisco, CA USA UCL, Inst Ophthalmol, London, England

Michaelides, Michel
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UCL, Inst Ophthalmol, London, England
Moorfields Eye Hosp, Inherited Eye Dis Serv, London, England UCL, Inst Ophthalmol, London, England

Webster, Andrew R.
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UCL, Inst Ophthalmol, London, England
Moorfields Eye Hosp, Inherited Eye Dis Serv, London, England UCL, Inst Ophthalmol, London, England

Ali, Manir
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h-index: 0
机构:
Univ Leeds, St Jamess Univ Hosp, Leeds Inst Biomed & Clin Sci, Sect Ophthalmol & Neurosci, Leeds, W Yorkshire, England UCL, Inst Ophthalmol, London, England
[20]
A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report
[J].
Kozina, Anastasiya Aleksandrovna
;
Okuneva, Elena Grigorievna
;
Baryshnikova, Natalia Vladimirovna
;
Krasnenko, Anna Yurievna
;
Tsukanov, Kirill Yurievich
;
Klimchuk, Olesya Igorevna
;
Kondakova, Olga Borisovna
;
Larionova, Anna Nikolaevna
;
Batysheva, Tatyana Timofeevna
;
Surkova, Ekaterina Ivanovna
;
Shatalov, Peter Alekseevich
;
Ilinsky, Valery Vladimirovich
.
BMC MEDICAL GENETICS,
2018, 19

Kozina, Anastasiya Aleksandrovna
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Biomed Chem, Pogodinskaya St 10 Bldg 8, Moscow 119121, Russia
Genotek Ltd, Nastavnicheskii Pereulok 17, Moscow 105120, Russia Inst Biomed Chem, Pogodinskaya St 10 Bldg 8, Moscow 119121, Russia

Okuneva, Elena Grigorievna
论文数: 0 引用数: 0
h-index: 0
机构:
Genotek Ltd, Nastavnicheskii Pereulok 17, Moscow 105120, Russia Inst Biomed Chem, Pogodinskaya St 10 Bldg 8, Moscow 119121, Russia

Baryshnikova, Natalia Vladimirovna
论文数: 0 引用数: 0
h-index: 0
机构:
Genotek Ltd, Nastavnicheskii Pereulok 17, Moscow 105120, Russia
Pirogov Russian Natl Res Med Univ, Ostrovitianova St 1, Moscow 117997, Russia Inst Biomed Chem, Pogodinskaya St 10 Bldg 8, Moscow 119121, Russia

Krasnenko, Anna Yurievna
论文数: 0 引用数: 0
h-index: 0
机构:
Genotek Ltd, Nastavnicheskii Pereulok 17, Moscow 105120, Russia
Pirogov Russian Natl Res Med Univ, Ostrovitianova St 1, Moscow 117997, Russia Inst Biomed Chem, Pogodinskaya St 10 Bldg 8, Moscow 119121, Russia

Tsukanov, Kirill Yurievich
论文数: 0 引用数: 0
h-index: 0
机构:
Genotek Ltd, Nastavnicheskii Pereulok 17, Moscow 105120, Russia Inst Biomed Chem, Pogodinskaya St 10 Bldg 8, Moscow 119121, Russia

Klimchuk, Olesya Igorevna
论文数: 0 引用数: 0
h-index: 0
机构:
Genotek Ltd, Nastavnicheskii Pereulok 17, Moscow 105120, Russia Inst Biomed Chem, Pogodinskaya St 10 Bldg 8, Moscow 119121, Russia

Kondakova, Olga Borisovna
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h-index: 0
机构:
Moscow Hlth Dept, Sci & Pract Ctr Pediat Psychoneurol, Michurinsky Prospect 74, Moscow 119602, Russia Inst Biomed Chem, Pogodinskaya St 10 Bldg 8, Moscow 119121, Russia

Larionova, Anna Nikolaevna
论文数: 0 引用数: 0
h-index: 0
机构:
Moscow Hlth Dept, Sci & Pract Ctr Pediat Psychoneurol, Michurinsky Prospect 74, Moscow 119602, Russia Inst Biomed Chem, Pogodinskaya St 10 Bldg 8, Moscow 119121, Russia

Batysheva, Tatyana Timofeevna
论文数: 0 引用数: 0
h-index: 0
机构:
Moscow Hlth Dept, Sci & Pract Ctr Pediat Psychoneurol, Michurinsky Prospect 74, Moscow 119602, Russia Inst Biomed Chem, Pogodinskaya St 10 Bldg 8, Moscow 119121, Russia

Surkova, Ekaterina Ivanovna
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h-index: 0
机构:
Genotek Ltd, Nastavnicheskii Pereulok 17, Moscow 105120, Russia Inst Biomed Chem, Pogodinskaya St 10 Bldg 8, Moscow 119121, Russia

Shatalov, Peter Alekseevich
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h-index: 0
机构:
Genotek Ltd, Nastavnicheskii Pereulok 17, Moscow 105120, Russia
Pirogov Russian Natl Res Med Univ, Veltischev Res & Clin Inst Pediat, Taldomskaya Str 2, Moscow 125412, Russia Inst Biomed Chem, Pogodinskaya St 10 Bldg 8, Moscow 119121, Russia

Ilinsky, Valery Vladimirovich
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Biomed Chem, Pogodinskaya St 10 Bldg 8, Moscow 119121, Russia
Genotek Ltd, Nastavnicheskii Pereulok 17, Moscow 105120, Russia
Pirogov Russian Natl Res Med Univ, Ostrovitianova St 1, Moscow 117997, Russia
Vavilov Inst Gen Genet, Gubkina St 3, Moscow 119333, Russia Inst Biomed Chem, Pogodinskaya St 10 Bldg 8, Moscow 119121, Russia