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- [1] Identification of a Novel ASAH1 Gene Mutation in Spinal Muscular Atrophy with Progressive Myoclonic EpilepsyIRANIAN JOURNAL OF CHILD NEUROLOGY, 2024, 18 (03) : 131 - 135Ahangari, Najmeh论文数: 0 引用数: 0 h-index: 0机构: Islamic Azad Univ, Fac Med, Innovat Med Res Ctr, Mashhad Med Sci, Mashhad, Iran Islamic Azad Univ, Fac Med, Innovat Med Res Ctr, Mashhad Med Sci, Mashhad, IranArab, Fatemeh论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Fac Med, Dept Med Genet, Tehran, Iran Islamic Azad Univ, Fac Med, Innovat Med Res Ctr, Mashhad Med Sci, Mashhad, IranBabaei, Meisam论文数: 0 引用数: 0 h-index: 0机构: North Khorasan Univ Med Sci, Dept Pediat, Bojnurd, Iran Islamic Azad Univ, Fac Med, Innovat Med Res Ctr, Mashhad Med Sci, Mashhad, Iran
- [2] Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 91 (01) : 5 - 14Zhou, Jie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, France Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, FranceTawk, Marcel论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, France Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, FranceTiziano, Francesco Danilo论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Ist Genet Med, I-00168 Rome, Italy Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, FranceVeillet, Julien论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, France Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, FranceBayes, Monica论文数: 0 引用数: 0 h-index: 0机构: Univ Barcelona, Ctr Nacl Anal Genom, Barcelona 080028, Spain Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, France论文数: 引用数: h-index:机构:Garcia, Virginie论文数: 0 引用数: 0 h-index: 0机构: Univ Toulouse 3, Ctr Rech Canc Toulouse, INSERM, UMR 1037, F-31432 Toulouse, France Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, FranceServidei, Serenella论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Ist Neurol, I-00168 Rome, Italy Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, FranceBertini, Enrico论文数: 0 引用数: 0 h-index: 0机构: Osped Bambino Gesu Res Inst, Dept Neurosci, Mol Med Unit, I-00165 Rome, Italy Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, FranceCastro-Giner, Francesc论文数: 0 引用数: 0 h-index: 0机构: Univ Barcelona, Ctr Nacl Anal Genom, Barcelona 080028, Spain Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, FranceRenda, Yavuz论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Dept Pediat, Child Neurol Unit, TR-06100 Ankara, Turkey Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, FranceCarpentier, Stephane论文数: 0 引用数: 0 h-index: 0机构: Univ Toulouse 3, Ctr Rech Canc Toulouse, INSERM, UMR 1037, F-31432 Toulouse, France Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, FranceAndrieu-Abadie, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Univ Toulouse 3, Ctr Rech Canc Toulouse, INSERM, UMR 1037, F-31432 Toulouse, France Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, FranceGut, Ivo论文数: 0 引用数: 0 h-index: 0机构: Univ Barcelona, Ctr Nacl Anal Genom, Barcelona 080028, Spain Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, FranceLevade, Thierry论文数: 0 引用数: 0 h-index: 0机构: Univ Toulouse 3, Ctr Rech Canc Toulouse, INSERM, UMR 1037, F-31432 Toulouse, France Ctr Hosp Univ Toulouse, Hop Purpan, Inst Federatif Biol, Lab Biochim Metab, F-31432 Toulouse, France Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, FranceTopaloglu, Haluk论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Dept Pediat, Child Neurol Unit, TR-06100 Ankara, Turkey Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, FranceMelki, Judith论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, France Univ Paris 11, INSERM, UMR 788, Biomed Inst Bicetre, F-94276 Le Kremlin Bicetre, France
- [3] Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1EPILEPSIA, 2015, 56 (05) : 692 - 698Rubboli, Guido论文数: 0 引用数: 0 h-index: 0机构: Filadelfia Univ Copenhagen, Danish Epilepsy Ctr, DK-4293 Dianalund, Denmark Bellaria Hosp, Neurol Unit, IRCCS Inst Neurol Sci, Bologna, Italy Filadelfia Univ Copenhagen, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkVeggiotti, Pierangelo论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, IRCCS C Mondino Natl Neurol Inst, Child Neuropsychiat Unit, Dept Brain & Behav Sci, I-27100 Pavia, Italy Filadelfia Univ Copenhagen, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkPini, Antonella论文数: 0 引用数: 0 h-index: 0机构: Bellaria Hosp, IRCCS Inst Neurol Sci, Child Neurol Unit, Bologna, Italy Filadelfia Univ Copenhagen, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkBerardinelli, Angela论文数: 0 引用数: 0 h-index: 0机构: IRCCS C Mondino Natl Neurol Inst, Child Neuropsychiat Unit, Pavia, Italy Filadelfia Univ Copenhagen, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkCantalupo, Gaetano论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Life & Reprod Sci, I-37100 Verona, Italy Filadelfia Univ Copenhagen, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkBertini, Enrico论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Res Hosp, IRCCS Lab Mol Med, Rome, Italy Filadelfia Univ Copenhagen, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkTiziano, Francesco Danilo论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Inst Med Genet, I-00168 Rome, Italy Filadelfia Univ Copenhagen, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkD'Amico, Adele论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Res Hosp, IRCCS Lab Mol Med, Rome, Italy Filadelfia Univ Copenhagen, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkPiazza, Elena论文数: 0 引用数: 0 h-index: 0机构: IRCCS C Mondino Natl Neurol Inst, Child Neuropsychiat Unit, Pavia, Italy Filadelfia Univ Copenhagen, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkAbiusi, Emanuela论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Inst Med Genet, I-00168 Rome, Italy Filadelfia Univ Copenhagen, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkFiori, Stefania论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Inst Med Genet, I-00168 Rome, Italy Filadelfia Univ Copenhagen, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkPasini, Elena论文数: 0 引用数: 0 h-index: 0机构: Bellaria Hosp, Neurol Unit, IRCCS Inst Neurol Sci, Bologna, Italy Filadelfia Univ Copenhagen, Danish Epilepsy Ctr, DK-4293 Dianalund, Denmark论文数: 引用数: h-index:机构:Gobbi, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Bellaria Hosp, IRCCS Inst Neurol Sci, Child Neurol Unit, Bologna, Italy Filadelfia Univ Copenhagen, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkMichelucci, Roberto论文数: 0 引用数: 0 h-index: 0机构: Bellaria Hosp, Neurol Unit, IRCCS Inst Neurol Sci, Bologna, Italy Filadelfia Univ Copenhagen, Danish Epilepsy Ctr, DK-4293 Dianalund, Denmark
- [4] Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1CLINICAL NEUROLOGY AND NEUROSURGERY, 2018, 164 : 47 - 49Yildiz, Edibe Pembegul论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Fac Med, Dept Pediat, Div Pediat Neurol, TR-34093 Istanbul, Turkey Istanbul Univ, Istanbul Fac Med, Dept Pediat, Div Pediat Neurol, TR-34093 Istanbul, TurkeyYesil, Gozde论文数: 0 引用数: 0 h-index: 0机构: Bezmi Alem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, Turkey Istanbul Univ, Istanbul Fac Med, Dept Pediat, Div Pediat Neurol, TR-34093 Istanbul, TurkeyBektas, Gonca论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Fac Med, Dept Pediat, Div Pediat Neurol, TR-34093 Istanbul, Turkey Istanbul Univ, Istanbul Fac Med, Dept Pediat, Div Pediat Neurol, TR-34093 Istanbul, TurkeyCaliskan, Mine论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Fac Med, Dept Pediat, Div Pediat Neurol, TR-34093 Istanbul, Turkey Istanbul Univ, Istanbul Fac Med, Dept Pediat, Div Pediat Neurol, TR-34093 Istanbul, TurkeyTatli, Burak论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Fac Med, Dept Pediat, Div Pediat Neurol, TR-34093 Istanbul, Turkey Istanbul Univ, Istanbul Fac Med, Dept Pediat, Div Pediat Neurol, TR-34093 Istanbul, TurkeyAydinli, Nur论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Fac Med, Dept Pediat, Div Pediat Neurol, TR-34093 Istanbul, Turkey Istanbul Univ, Istanbul Fac Med, Dept Pediat, Div Pediat Neurol, TR-34093 Istanbul, TurkeyOzmen, Meral论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Fac Med, Dept Pediat, Div Pediat Neurol, TR-34093 Istanbul, Turkey Istanbul Univ, Istanbul Fac Med, Dept Pediat, Div Pediat Neurol, TR-34093 Istanbul, Turkey
- [5] Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare AssociationJOURNAL OF NEUROSCIENCES IN RURAL PRACTICE, 2021, 12 (01) : 210 - 212Radhakrishnan, Divya M.论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Neurol, Rishikesh 249201, Uttarakhand, India All India Inst Med Sci, Dept Neurol, New Delhi, India All India Inst Med Sci, Dept Neurol, Rishikesh 249201, Uttarakhand, IndiaShree, Ritu论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Neurol, Rishikesh 249201, Uttarakhand, India Post Grad Inst Med Educ & Res, Dept Neurol, Chandigarh, India All India Inst Med Sci, Dept Neurol, Rishikesh 249201, Uttarakhand, IndiaMadhaw, Govind论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Neurol, Rishikesh 249201, Uttarakhand, India All India Inst Med Sci, Dept Neurol, Rishikesh 249201, Uttarakhand, IndiaManchanda, Rajat论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Neurol, Rishikesh 249201, Uttarakhand, India All India Inst Med Sci, Dept Neurol, Rishikesh 249201, Uttarakhand, IndiaMahadevan, Anita论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neuropathol, Bangalore, Karnataka, India All India Inst Med Sci, Dept Neurol, Rishikesh 249201, Uttarakhand, IndiaKumar, Niraj论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Neurol, Rishikesh 249201, Uttarakhand, India All India Inst Med Sci, Dept Neurol, Rishikesh 249201, Uttarakhand, India
- [6] ASSOCIATION OF PROGRESSIVE MYOCLONIC EPILEPSY AND SPINAL MUSCULAR-ATROPHYPEDIATRIC NEUROLOGY, 1993, 9 (02) : 147 - 150MARJANOVIC, B论文数: 0 引用数: 0 h-index: 0机构: UNIV BELGRADE, INST PATHOL, NEUROPATHOL LAB, BELGRADE, YUGOSLAVIATODOROVIC, S论文数: 0 引用数: 0 h-index: 0机构: UNIV BELGRADE, INST PATHOL, NEUROPATHOL LAB, BELGRADE, YUGOSLAVIADOZIC, S论文数: 0 引用数: 0 h-index: 0机构: UNIV BELGRADE, INST PATHOL, NEUROPATHOL LAB, BELGRADE, YUGOSLAVIA
- [7] Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsyNEUROMUSCULAR DISORDERS, 2015, 25 (12) : 959 - 963Gan, Joanna J.论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USAGarcia, Virginie论文数: 0 引用数: 0 h-index: 0机构: Fac Med Toulouse, INSERM, UMR1037, F-31073 Toulouse, France Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USATian, Jane论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USATagliati, Michele论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USAParisi, Joseph E.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med, Rochester, MN 55905 USA Mayo Clin, Dept Pathol, Rochester, MN 55905 USA Mayo Clin, Dept Neurol, Rochester, MN 55905 USA Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USAChung, Jeffrey M.论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USALewis, Richard论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USABaloh, Robert论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USALevade, Thierry论文数: 0 引用数: 0 h-index: 0机构: Fac Med Toulouse, INSERM, UMR1037, F-31073 Toulouse, France Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USAPierson, Tyler Mark论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Dept Pediat, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USA
- [8] Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: Phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1NEUROMUSCULAR DISORDERS, 2015, 25 (03) : 222 - 224Giraldez, Beatriz G.论文数: 0 引用数: 0 h-index: 0机构: UAM, IIS Fdn Jimenez Diaz, Dept Neuml, Neurol Lab, Madrid, Spain UAM, IIS Fdn Jimenez Diaz, Dept Neuml, Epilepsy Unit, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain UAM, IIS Fdn Jimenez Diaz, Dept Neuml, Neurol Lab, Madrid, SpainGuerrero-Lopez, Rosa论文数: 0 引用数: 0 h-index: 0机构: UAM, IIS Fdn Jimenez Diaz, Dept Neuml, Neurol Lab, Madrid, Spain UAM, IIS Fdn Jimenez Diaz, Dept Neuml, Epilepsy Unit, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain UAM, IIS Fdn Jimenez Diaz, Dept Neuml, Neurol Lab, Madrid, SpainOrtega-Moreno, Laura论文数: 0 引用数: 0 h-index: 0机构: UAM, IIS Fdn Jimenez Diaz, Dept Neuml, Neurol Lab, Madrid, Spain UAM, IIS Fdn Jimenez Diaz, Dept Neuml, Epilepsy Unit, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain UAM, IIS Fdn Jimenez Diaz, Dept Neuml, Neurol Lab, Madrid, SpainVerdu, Alfonso论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Salud, Neuropediat Unit, Toledo, Spain UAM, IIS Fdn Jimenez Diaz, Dept Neuml, Neurol Lab, Madrid, SpainCarmen Carrascosa-Romero, M.论文数: 0 引用数: 0 h-index: 0机构: Complejo Univ Hosp Albacete, Neuropediat Unit, Albacete, Spain UAM, IIS Fdn Jimenez Diaz, Dept Neuml, Neurol Lab, Madrid, SpainGarcia-Campos, Oscar论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Salud, Neuropediat Unit, Toledo, Spain UAM, IIS Fdn Jimenez Diaz, Dept Neuml, Neurol Lab, Madrid, SpainGarcia-Munozguren, Susana论文数: 0 引用数: 0 h-index: 0机构: Complejo Univ Hosp Albacete, Dept Neurol, Albacete, Spain UAM, IIS Fdn Jimenez Diaz, Dept Neuml, Neurol Lab, Madrid, SpainManuel Pardal-Fernandez, Jose论文数: 0 引用数: 0 h-index: 0机构: Complejo Univ Hosp Albacete, Dept Neurophysiol, Albacete, Spain UAM, IIS Fdn Jimenez Diaz, Dept Neuml, Neurol Lab, Madrid, SpainSerratosa, Jose M.论文数: 0 引用数: 0 h-index: 0机构: UAM, IIS Fdn Jimenez Diaz, Dept Neuml, Neurol Lab, Madrid, Spain UAM, IIS Fdn Jimenez Diaz, Dept Neuml, Epilepsy Unit, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain UAM, IIS Fdn Jimenez Diaz, Dept Neuml, Neurol Lab, Madrid, Spain
- [9] A novel variant of spinal muscular atrophy with progressive myoclonic epilepsyNEUROMUSCULAR DISORDERS, 2002, 12 (7-8) : 737 - 737Haliloglu, G论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Childrens Hosp Med Ctr, Ankara, TurkeyChattopadhyay, A论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Childrens Hosp Med Ctr, Ankara, TurkeySkorodis, L论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Childrens Hosp Med Ctr, Ankara, TurkeyManzur, A论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Childrens Hosp Med Ctr, Ankara, TurkeyRenda, Y论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Childrens Hosp Med Ctr, Ankara, TurkeyMuntoni, F论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Childrens Hosp Med Ctr, Ankara, TurkeyTopaloglu, H论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Childrens Hosp Med Ctr, Ankara, Turkey
- [10] ASAH1pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsyHUMAN MUTATION, 2020, 41 (09) : 1469 - 1487Elsea, Sarah H.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USASolyom, Alexander论文数: 0 引用数: 0 h-index: 0机构: Enzyvant, Viaduktstr 8, CH-4051 Basel, Switzerland Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAMartin, Kirt论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAHarmatz, Paul论文数: 0 引用数: 0 h-index: 0机构: UCSF Benioff Childrens Hosp Oakland, Pediat Gastroenterolgy & Nutr, Oakland, CA USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAMitchell, John论文数: 0 引用数: 0 h-index: 0机构: Montreal Childrens Hosp, Montreal, PQ, Canada Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USALampe, Christina论文数: 0 引用数: 0 h-index: 0机构: UKGM Univ Klinikum Giessen, Giessen, Germany Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAGrant, Christina论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Washington, DC 20010 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USASelim, Laila论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Childrens Hosp, Cairo, Egypt Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAMungan, Neslihan Oneli论文数: 0 引用数: 0 h-index: 0机构: Cukurova Univ Hosp, Adana, Turkey Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAGuelbert, Norberto论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Cordoba, Cordoba, Argentina Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAMagnusson, Bo论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Stockholm, Sweden Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USASundberg, Erik论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Stockholm, Sweden Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAPuri, Ratna论文数: 0 引用数: 0 h-index: 0机构: Sir Ganga Ram Hosp, New Delhi, India Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAKapoor, Seema论文数: 0 引用数: 0 h-index: 0机构: Lok Nayak Hosp, New Delhi, India Maulana Azad Med Coll, New Delhi, India Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAArslan, Nur论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ Hosp, Izmir, Turkey Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USADiRocco, Maja论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Metab Dis, Genoa, Italy Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAZaki, Maha论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Clin Genet Dept, Cairo, Egypt Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAOzen, Seza论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ Hosp, Pediat Rheumatol, Ankara, Turkey Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAMahmoud, Iman G.论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Childrens Hosp, Cairo, Egypt Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAEhlert, Karoline论文数: 0 引用数: 0 h-index: 0机构: Univ Med Greifswald, Greifswald, Germany Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAHahn, Andreas论文数: 0 引用数: 0 h-index: 0机构: UKGM Univ Klinikum Giessen, Giessen, Germany Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAGokcay, Gulden论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul, Turkey Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USATorcoletti, Marta论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Pediat Rheumatol, Milan, Italy Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAFerreira, Carlos R.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA