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- [21] Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosaEUROPEAN JOURNAL OF OPHTHALMOLOGY, 2012, 22 (04) : 647 - 653Ksantini, Mohamed论文数: 0 引用数: 0 h-index: 0机构: Inst Neurosci Montpellier, INSERM 1051, Montpellier, France Univ Montpellier I, Montpellier, France Inst Neurosci Montpellier, INSERM 1051, Montpellier, FranceLafont, Estele论文数: 0 引用数: 0 h-index: 0机构: Inst Neurosci Montpellier, INSERM 1051, Montpellier, France Univ Montpellier I, Montpellier, France Inst Neurosci Montpellier, INSERM 1051, Montpellier, FranceBocquet, Beatrice论文数: 0 引用数: 0 h-index: 0机构: Inst Neurosci Montpellier, INSERM 1051, Montpellier, France Univ Montpellier I, Montpellier, France Inst Neurosci Montpellier, INSERM 1051, Montpellier, France论文数: 引用数: h-index:机构:Hamel, Christian P.论文数: 0 引用数: 0 h-index: 0机构: Inst Neurosci Montpellier, INSERM 1051, Montpellier, France Univ Montpellier I, Montpellier, France CHRU, Montpellier, France Inst Neurosci Montpellier, INSERM 1051, Montpellier, France
- [22] Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCABRAIN, 2016, 139Yoon, Grace论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada Univ Toronto, Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, CanadaDelague, Valerie论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR S 910, F-13385 Marseille, France Univ Toronto, Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, CanadaMegarbane, Andre论文数: 0 引用数: 0 h-index: 0机构: Univ St Joseph, Fac Med, Unite Genet Med, Beirut, Lebanon Univ St Joseph, Fac Med, Lab Associe, Inserm UMR S 910, Beirut, Lebanon Univ Toronto, Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, CanadaIsaya, Grazia论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Paediat & Adolescent Med, Rochester, MN USA Mayo Clin, Mayo Clin Childrens Ctr, Rochester, MN USA Univ Toronto, Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada
- [23] Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1ARCHIVES OF NEUROLOGY, 2008, 65 (01) : 125 - 131Ferraris, Silvio论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Pediat, I-10124 Turin, Italy Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10032 USAClark, Susanna论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Environm Hlth Sci, Lab Mol Genet & Sci Comp Lab, NIH, Res Triangle Pk, NC USA Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10032 USAGarelli, Emanuela论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Pediat, I-10124 Turin, Italy Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10032 USADavidzon, Guido论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10032 USA Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10032 USAMoore, Steven A.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Pathol, Iowa City, IA 52242 USA Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10032 USAKardon, Randy H.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Ophthalmol & Visual Sci, Iowa City, IA USA Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10032 USABienstock, Rachelle J.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Environm Hlth Sci, Lab Mol Genet & Sci Comp Lab, NIH, Res Triangle Pk, NC USA Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10032 USALongley, Matthew J.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Environm Hlth Sci, Lab Mol Genet & Sci Comp Lab, NIH, Res Triangle Pk, NC USA Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10032 USAMancuso, Michelangelo论文数: 0 引用数: 0 h-index: 0机构: Univ Pisa, Dept Neurosci, Neurol Inst, Pisa, Italy Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10032 USARios, Purificacion Gutierrez论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10032 USA Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10032 USAHirano, Michio论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10032 USA Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10032 USACopeland, William C.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Environm Hlth Sci, Lab Mol Genet & Sci Comp Lab, NIH, Res Triangle Pk, NC USA Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10032 USADiMauro, Salvatore论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10032 USA Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10032 USA
- [24] Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese FamilyJOURNAL OF CLINICAL NEUROLOGY, 2020, 16 (02): : 333 - 335Yang, Shi-Lin论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, 12,Wulumuqi Rd M, Shanghai 200040, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, 12,Wulumuqi Rd M, Shanghai 200040, Peoples R ChinaChen, Shu-Fen论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, 12,Wulumuqi Rd M, Shanghai 200040, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, 12,Wulumuqi Rd M, Shanghai 200040, Peoples R ChinaJiao, Yu-Qiong论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, 12,Wulumuqi Rd M, Shanghai 200040, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, 12,Wulumuqi Rd M, Shanghai 200040, Peoples R ChinaDong, Zhi-Yuan论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Neurol, Shanghai Peoples Hosp 5, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, 12,Wulumuqi Rd M, Shanghai 200040, Peoples R ChinaDong, Qiang论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, 12,Wulumuqi Rd M, Shanghai 200040, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, 12,Wulumuqi Rd M, Shanghai 200040, Peoples R ChinaHan, Xiang论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, 12,Wulumuqi Rd M, Shanghai 200040, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, 12,Wulumuqi Rd M, Shanghai 200040, Peoples R China
- [25] Autosomal recessive isolated familial acanthosis nigricans in a Pakistani family due to a homozygous mutation in the insulin receptor geneBRITISH JOURNAL OF DERMATOLOGY, 2013, 169 (02) : 476 - 478论文数: 引用数: h-index:机构:Mahmoudi, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Quaid I Azam Univ, Dept Biotechnol, Islamabad 45320, Pakistan论文数: 引用数: h-index:机构:Betz, R. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Quaid I Azam Univ, Dept Biotechnol, Islamabad 45320, Pakistan
- [26] A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonismNEUROSCIENCE LETTERS, 2016, 624 : 100 - 104Chen, Han论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R ChinaHuang, Xiangjun论文数: 0 引用数: 0 h-index: 0机构: Hunan Univ Chinese Med, Hosp 1, Dept Gen Surg, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R ChinaYuan, Lamei论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R ChinaXia, Hong论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 3, Dept Emergency, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R ChinaXu, Hongbo论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R ChinaYang, Yan论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R ChinaZheng, Wen论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R ChinaDeng, Hao论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R China
- [27] Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 MutationCalcified Tissue International, 2018, 103 : 353 - 358Alice Costantini论文数: 0 引用数: 0 h-index: 0机构: Karolinska Institutet,Department of Molecular Medicine and Surgery and Center for Molecular MedicineSymeon Tournis论文数: 0 引用数: 0 h-index: 0机构: Karolinska Institutet,Department of Molecular Medicine and Surgery and Center for Molecular MedicineAnders Kämpe论文数: 0 引用数: 0 h-index: 0机构: Karolinska Institutet,Department of Molecular Medicine and Surgery and Center for Molecular MedicineNoor Ul Ain论文数: 0 引用数: 0 h-index: 0机构: Karolinska Institutet,Department of Molecular Medicine and Surgery and Center for Molecular MedicineFulya Taylan论文数: 0 引用数: 0 h-index: 0机构: Karolinska Institutet,Department of Molecular Medicine and Surgery and Center for Molecular MedicineArtemis Doulgeraki论文数: 0 引用数: 0 h-index: 0机构: Karolinska Institutet,Department of Molecular Medicine and Surgery and Center for Molecular MedicineOuti Mäkitie论文数: 0 引用数: 0 h-index: 0机构: Karolinska Institutet,Department of Molecular Medicine and Surgery and Center for Molecular Medicine
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- [29] Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A MutationFRONTIERS IN NEUROLOGY, 2019, 9Weber, Juliane论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Fac Med, Med Ctr, Dept Neurol, Freiburg, Germany Univ Freiburg, Fac Med, Med Ctr, Dept Neurol, Freiburg, Germany论文数: 引用数: h-index:机构:Rijntjes, Michel论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Fac Med, Med Ctr, Dept Neurol, Freiburg, Germany Univ Freiburg, Fac Med, Med Ctr, Dept Neurol, Freiburg, Germany论文数: 引用数: h-index:机构:Fischer, Judith论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Fac Med, Med Ctr, Dept Human Genet, Freiburg, Germany Univ Freiburg, Fac Med, Med Ctr, Dept Neurol, Freiburg, GermanyWeiler, Cornelius论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Fac Med, Med Ctr, Dept Neurol, Freiburg, Germany Univ Freiburg, Fac Med, Med Ctr, Dept Neurol, Freiburg, GermanyMeyer, Philipp T.论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Dept Nucl Med, Fac Med, Med Ctr, Freiburg, Germany Univ Freiburg, Fac Med, Med Ctr, Dept Neurol, Freiburg, GermanyKlebe, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Fac Med, Med Ctr, Dept Neurol, Freiburg, Germany Univ Hosp Essen, Dept Neurol, Essen, Germany Univ Freiburg, Fac Med, Med Ctr, Dept Neurol, Freiburg, Germany
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West, Vic 3161, AustraliaAfawi, Zaid论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Tel Aviv Sourasky Med Ctr, Dept Neurol, IL-64239 Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, IL-64239 Tel Aviv, Israel Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaShimojo, Masahito论文数: 0 引用数: 0 h-index: 0机构: Univ Kentucky, Dept Mol & Cellular Biochem, Lexington, KY 40536 USA Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaMiyata, Shingo论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Grad Sch Med, Dept Anat & Neurosci, Suita, Osaka 5650871, Japan Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaChen, Shan论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaGonzalez-Alegre, Pedro论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Neurol, Iowa City, IA 52242 USA Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaGriesbach, Hilary L.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Biol, Iowa City, IA 52242 USA Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaWu, Shu论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, Australia论文数: 引用数: h-index:机构:Vladar, Eszter K.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA Stanford Univ, Sch Med, Dept Dev Biol, Stanford, CA 94305 USA Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaAntic, Dragana论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA Stanford Univ, Sch Med, Dept Dev Biol, Stanford, CA 94305 USA Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaFerguson, Polly J.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaCirak, Sebahattin论文数: 0 引用数: 0 h-index: 0机构: Univ Kinder Klin Essen, Abt Allgemeine Padiat Schwerpunkt Neuropadiat, D-45122 Essen, Germany Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaVoit, Thomas论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Inst Myol, F-75013 Paris, France Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaScott, Matthew P.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Dev Biol, Stanford, CA 94305 USA Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA Stanford Univ, Sch Med, Dept Bioengn, Stanford, CA 94305 USA Stanford Univ, Sch Med, Howard Hughes Med Inst, Stanford, CA 94305 USA Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaAxelrod, Jeffrey D.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaGurnett, Christina论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Div Pediat Neurol, Dept Neurol, St Louis, MO 63110 USA Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaDaoud, Azhar S.论文数: 0 引用数: 0 h-index: 0机构: Jordan Univ Sci & Technol, Dept Pediat, Irbid 22110, Jordan Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaKivity, Sara论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaNeufeld, Miriam Y.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Tel Aviv Sourasky Med Ctr, Dept Neurol, IL-64239 Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, IL-64239 Tel Aviv, Israel Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaMazarib, Aziz论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Dept Child Neurol, IL-49202 Petah Tiqwa, Israel Kupat Holim Clalit, IL-16000 Nazareth, Israel Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaStraussberg, Rachel论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Epilepsy Unit, IL-49202 Petah Tiqwa, Israel Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaWalid, Simri论文数: 0 引用数: 0 h-index: 0机构: Western Galilee Hosp, Dept Neurol, IL-22100 Nahariyya, Israel Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaKorczyn, Amos D.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sieratzki Chair Neurol, IL-69978 Ramat Aviv, Israel Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaSlusarski, Diane C.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Biol, Iowa City, IA 52242 USA Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaBerkovic, Samuel F.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne Austin Hlth, Dept Med, Heidelberg West, Vic 3161, Australia Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, AustraliaEl-Shanti, Hatem I.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, Australia Shafallah Med Genet Ctr, Doha, Qatar Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, Australia