日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

儿童期发病的TUBB4A相关脑白质营养不良症不同亚型的自然病程

Gavazzi, Francesco; Charsar, Brittany; Hamilton, Eline; Erler, Jacqueline A; Patel, Virali; Woidill, Sarah; Sevagamoorthy, Anjana; Helman, Guy; Schmidt, Johanna; Pizzino, Amy; Muirhead, Kayla; Takanohashi, Asako; Bonkowsky, Joshua L; Meyerhoffer, Kelsee; Simons, Cas; Doi, Hiroshi; Satoko, Miyatake; Matsumoto, Naomichi; Delgado, Mauricio R; Sanchez-Castillo, Meredith; Wang, Jingming; de Carvalho, Daniel Rocha; Tournev, Ivailo; Chamova, Teodora; Jordanova, Albena; Clegg, Nancy J; Nicita, Francesco; Bertini, Enrico; Teng, Michelle; Williams, Dan; Tonduti, Davide; Houlden, Henry; Stellingwerff, Menno; Wassmer, Evangeline; Garcia-Cazorla, Angeles; Bernard, Geneviève; Mirchi, Amytice; Toutounchi, Helia; Wolf, Nicole I; van der Knaap, Marjo S; Shults, Justine; Adang, Laura A; Vanderver, Adeline L

Teaching NeuroImage: Low-Frequency Photoparoxysmal Response in a Patient With Neuronal Ceroid Lipofuscinosis Type 2

神经影像教学:2型神经元蜡样脂褐质沉积症患者的低频光敏性阵发反应

Mirchi, Amytice; Myers, Kenneth A

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

由POLR3A、POLR3B和POLR1C基因双等位基因变异引起的POLR3相关脑白质营养不良的颅面特征

Mirchi, Amytice; Guay, Simon-Pierre; Tran, Luan T; Wolf, Nicole I; Vanderver, Adeline; Brais, Bernard; Sylvain, Michel; Pohl, Daniela; Rossignol, Elsa; Saito, Michael; Moutton, Sebastien; González-Gutiérrez-Solana, Luis; Thiffault, Isabelle; Kruer, Michael C; Moron, Dolores Gonzales; Kauffman, Marcelo; Goizet, Cyril; Sztriha, László; Glamuzina, Emma; Melançon, Serge B; Naidu, Sakkubai; Retrouvey, Jean-Marc; Lacombe, Suzanne; Bernardino-Cuesta, Beatriz; De Bie, Isabelle; Bernard, Geneviève

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

MORC2相关疾病谱:与科凯恩综合征的潜在联系

Stafki, Seth A; Turner, Johnnie; Littel, Hannah R; Bruels, Christine C; Truong, Don; Knirsch, Ursula; Stettner, Georg M; Graf, Urs; Berger, Wolfgang; Kinali, Maria; Jungbluth, Heinz; Pacak, Christina A; Hughes, Jayne; Mirchi, Amytice; Derksen, Alexa; Vincent-Delorme, Catherine; Theil, Arjan F; Bernard, Geneviève; Ellis, David; Fassihi, Hiva; Lehmann, Alan R; Laugel, Vincent; Mohammed, Shehla; Kang, Peter B

NTRK1-related Hereditary Sensory and Autonomic Neuropathy Type 4: The Role of the Histamine Challenge Test

NTRK1相关遗传性感觉和自主神经病4型:组胺激发试验的作用

Mirchi, Amytice; Richer, Julie; Oskoui, Maryam; McMillan, Hugh J

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

由POLR3A、POLR3B和POLR1C基因变异引起的4H脑白质营养不良的内分泌和生长异常

Pelletier, Félixe; Perrier, Stefanie; Cayami, Ferdy K; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M L; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L; Brais, Bernard; Sylvain, Michel; Sébire, Guillaume; Lourenço, Charles Marques; Bonkowsky, Joshua L; Catsman-Berrevoets, Coriene; Pinto, Pedro S; Tirupathi, Sandya; Strømme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Krägeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Icíar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia Garcia, Maria Eugenia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M; Innes, A Micheil; Kauffman, Marcelo; Kirwin, Susan M; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melançon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando I; Moutton, Sebastien; Murphy, Raymond P J; Nickel, Miriam; Onay, Hüseyin; Orcesi, Simona; Özkınay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Pineda Marfa, Mercedes; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Rodriguez Espinosa, Norberto; Ronan, Anne; Ostergaard, John R; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Sønderberg Roos, Laura K; Stevens, Cathy A; Synofzik, Matthis; Sztriha, László; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P; Vázquez-López, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S; Vanderver, Adeline; Martos-Moreno, Gabriel Á; Polychronakos, Constantin; Wolf, Nicole I; Bernard, Geneviève

A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report

DYNC1H1基因新发变异导致脊髓性肌萎缩症下肢型,且多见于同卵双胞胎:病例报告

Derksen, Alexa; Mirchi, Amytice; Tran, Luan T; Cao-Lei, Lei; Oskoui, Maryam; Srour, Myriam; Poulin, Chantal; Bernard, Geneviève