Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations (vol 4, e279, 2018)

被引：0
|
作者：
Hewamadduma, C. A.
Hoggard, N.
O'Malley, R.
机构：
来源：
NEUROLOGY-GENETICS | 2018年 / 4卷 / 06期
关键词：
D O I：
10.1212/NXG.0000000000000300
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页数：1
相关论文
共 50 条
  • [1] Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
    Hewamadduma, Channa A.
    Hoggard, Nigel
    O'Malley, Ronan
    Robinson, Megan K.
    Beauchamp, Nick J.
    Segamogaite, Ruta
    Martindale, Jo
    Rodgers, Tobias
    Rao, Ganesh
    Sarrigiannis, Ptolemaios
    Shanmugarajah, Priya
    Zis, Panagiotis
    Sharrack, Basil
    McDermott, Christopher J.
    Shaw, Pamela J.
    Hadjivassiliou, Marios
    NEUROLOGY-GENETICS, 2018, 4 (06)
  • [2] SPG7 mutations in Hungarian cohorts: new insights and possible genotype-phenotype correlations
    Jimoh, I. J.
    Balicza, P.
    Csaban, D.
    Grosz, Z.
    Varga, N.
    Molnar, V.
    Fekete, B.
    Illes, A.
    Boczan, J.
    Klivenyi, P.
    Gal, A.
    Molnar, M.
    EUROPEAN JOURNAL OF NEUROLOGY, 2021, 28 : 845 - 845
  • [3] Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome
    Frazier, Zoe J.
    Kilic, Seyda
    Osika, Hailey
    Mo, Alisa
    Quinn, Meg
    Ballal, Sonia
    Katz, Tamar
    Shearer, A. Eliot
    Horlbeck, Max A.
    Pais, Lynn S.
    Dies, Kira A.
    O'Donnell-Luria, Anne
    Kossowsky, Joe
    Lipton, Jonathan O.
    Kleefstra, Tjitske
    Srivastava, Siddharth
    CLINICAL GENETICS, 2025,
  • [4] New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
    Alonso-Perez, Jorge
    Gonzalez-Quereda, Lidia
    Bello, Luca
    Guglieri, Michela
    Straub, Volker
    Gallano, Pia
    Semplicini, Claudio
    Pegoraro, Elena
    Zangaro, Vittoria
    Nascimento, Andres
    Ortez, Carlos
    Comi, Giacomo Pietro
    ten Dam, Leroy
    De Visser, Marianne
    van der Kooi, A. J.
    Garrido, Cristina
    Santos, Manuela
    Schara, Ulrike
    Gangfuss, Andrea
    Lokken, Nicoline
    Storgaard, Glesper Helbo
    Vissing, John
    Schoser, Benedikt
    Dekomien, Gabriele
    Udd, Bjarne
    Palmio, Johanna
    D'Amico, Adele
    Politano, Luisa
    Nigro, Vincenzo
    Bruno, Claudio
    Panicucci, Chiara
    Sarkozy, Anna
    Abdel-Mannan, Omar
    Alonsolimenez, Alicia
    Claeys, Kristl G.
    Gomez-Andres, David
    Munell, Francina
    Costa-Comellas, Laura
    Haberlova, Jana
    Rohlenova, Marie
    Elke, De Vos
    De Bleecker, Jan L.
    Dominguez-Gonzalez, Cristina
    Tasca, Giorgio
    Weiss, Claudia
    Deconinck, Nicolas
    Fernandez-Torron, Roberto
    de Munain, Adolfo Lopez
    Camacho-Salas, Ana
    Melegh, Bela
    BRAIN, 2020, 143 : 2696 - 2708
  • [5] Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort
    van Gassen, Koen L. I.
    van der Heijden, Charlotte D. C. C.
    de Bot, Susanne T.
    den Dunnen, Wilfred F. A.
    van den Berg, Leonard H.
    Verschuuren-Bemelmans, Corien C.
    Kremer, H. P. H.
    Veldink, Jan H.
    Kamsteeg, Erik-Jan
    Scheffer, Hans
    van de Warrenburg, Bart P.
    BRAIN, 2012, 135 : 2994 - 3004
  • [6] A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia
    Arnoldi, Alessia
    Tonelli, Alessandra
    Crippa, Francesca
    Villani, Gaetano
    Pacelli, Consiglia
    Sironi, Manuela
    Pozzoli, Uberto
    D'Angelo, Maria Grazia
    Meola, Giovanni
    Martinuzzi, Andrea
    Crimella, Claudia
    Redaelli, Francesca
    Panzeri, Chris
    Renieri, Alessandra
    Comi, Giacomo Pietro
    Turconi, Anna Carla
    Bresolin, Nereo
    Bassi, Maria Teresa
    HUMAN MUTATION, 2008, 29 (04) : 522 - 531
  • [7] New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy (vol 143, pg 2696, 2020)
    Alonso-Perez, Jorge
    Gonzalez-Quereda, Lidia
    Bello, Luca
    Guglieri, Michela
    Straub, Volker
    Gallano, Pia
    Semplicini, Claudio
    Pegoraro, Elena
    Zangaro, Vittoria
    Nascimento, Andres
    Ortez, Carlos
    Pietro Comi, Giacomo
    ten Dam, Leroy
    De Visser, Marianne
    van der Kooi, A. J.
    Garrido, Cristina
    Santos, Manuela
    Schara, Ulrike
    Gangfuss, Andrea
    Lokken, Nicoline
    Storgaard, Jesper Helbo
    Vissing, John
    Schoser, Benedikt
    Dekomien, Gabriele
    Udd, Bjarne
    Palmio, Johanna
    D'Amico, Adele
    Politano, Luisa
    Nigro, Vincenzo
    Bruno, Claudio
    Panicucci, Chiara
    Sarkozy, Anna
    Abdel-Mannan, Omar
    Alonso-Jimenez, Alicia
    Claeys, Kristl G.
    Gomez-Andres, David
    Munell, Francina
    Costa-Comellas, Laura
    Haberlova, Jana
    Rohlenova, Marie
    Elke, De Vos
    De Bleecker, Jan L.
    Dominguez-Gonzalez, Cristina
    Tasca, Giorgio
    Weiss, Claudia
    Deconinck, Nicolas
    Fernandez-Torron, Roberto
    Lopez de Munain, Adolfo
    Camacho-Salas, Ana
    Melegh, Bela
    BRAIN, 2023, 146 (01) : E9 - E9
  • [8] Novel PTEN mutations in patients with Cowden disease:: absence of clear genotype-phenotype correlations
    Nelen, MR
    Kremer, H
    Konings, IBM
    Schoute, F
    van Essen, AJ
    Koch, R
    Woods, CG
    Fryns, JP
    Hamel, B
    Hoefsloot, LH
    Peeters, EAJ
    Padberg, GW
    EUROPEAN JOURNAL OF HUMAN GENETICS, 1999, 7 (03) : 267 - 273
  • [9] Novel COL7A1 mutations in dystrophic epidermolysis bullosa and genotype-phenotype correlations
    Kern, JS
    Grüninger, G
    Bruckner-Tuderman, L
    Has, C
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2004, 123 (02)
  • [10] Novel and recurrent COL17A1 mutations and genotype-phenotype correlations in a large European cohort of junctional epidermolysis bullosa
    Kiritsi, D.
    Kern, J. S.
    Schumann, H.
    Has, C.
    Bruckner-Tuderman, L.
    EXPERIMENTAL DERMATOLOGY, 2009, 18 (03) : 283 - 283
12345