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Select item 89676911.

Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients

Yanbin Fan, Zhifei Xu, Xing Li, Feng Gao, Enyu Guo, Xingzhi Chang, Cuijie Wei, Cheng Zhang, Qing Yu, Chengli Que, Jiangxi Xiao, Chuanzhu Yan, Zhaoxia Wang, Yun Yuan, Hui Xiong

Front Genet. 2022; 13: 825793. Published online 2022 Mar 16. doi: 10.3389/fgene.2022.825793

PMCID:: PMC8967691

Abstract Article PDF–1.8M

Select item 65984042.

Facio-scapulo-humeral muscular dystrophy with early joint contractures and rigid spine

CONSTANTINOS PAPADOPOULOS, VASILIKI ZOUVELOU, GEORGE KONSTANTINOS PAPADIMAS

Acta Myol. 2019 Mar; 38(1): 25–28. Published online 2019 Mar 1.

PMCID:: PMC6598404

Abstract Article PDF–292K

Select item 63815083.

A child diagnosed with rigid spine syndrome complicated by ventilatory disorders: a nursing case report

Hua Lu, Zuojia Liu, Biru Li

J Int Med Res. 2019 Feb; 47(2): 1030–1034. Published online 2019 Jan 7. doi: 10.1177/0300060518815358

PMCID:: PMC6381508

Abstract Article PDF–338K

Select item 63326424.

A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report

Fateme Ziyaee, Eslam Shorafa, Hassan Dastsooz, Parham Habibzadeh, Hamid Nemati, Amir Saeed, Mohammad Silawi, Mohammad Ali Farazi Fard, Mohammad Ali Faghihi, Seyed Alireza Dastgheib

BMC Med Genet. 2019; 20: 13. Published online 2019 Jan 14. doi: 10.1186/s12881-018-0743-1

PMCID:: PMC6332642

Abstract Article PDF–1.7M

Select item 60703825.

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

Macarena Cabrera-Serrano, Fabiola Mavillard, Valerie Biancalana, Eloy Rivas, Bharti Morar, Aurelio Hernández-Laín, Montse Olive, Nuria Muelas, Eduardo Khan, Alejandra Carvajal, Pablo Quiroga, Jordi Diaz-Manera, Mark Davis, Rainiero Ávila, Cristina Domínguez, Norma Beatriz Romero, Juan J. Vílchez, David Comas, Nigel G. Laing, Jocelyn Laporte, Luba Kalaydjieva, Carmen Paradas

Neurology. 2018 Jul 24; 91(4): e339–e348. doi: 10.1212/WNL.0000000000005862

PMCID:: PMC6070382

Abstract Article PDF–1011K

Select item 53566286.

Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1

Yi Dai, Shengran Liang, Yan Huang, Lin Chen, Santasree Banerjee

Oncotarget. 2016 Dec 20; 7(51): 83843–83849. Published online 2016 Nov 14. doi: 10.18632/oncotarget.13337

PMCID:: PMC5356628

Abstract Article PDF–1.0M

Select item 47950627.

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

Gina L O'Grady, Heather A Best, Emily C Oates, Simranpreet Kaur, Amanda Charlton, Susan Brammah, Jaya Punetha, Akanchha Kesari, Kathryn N North, Biljana Ilkovski, Eric P Hoffman, Nigel F Clarke

Eur J Hum Genet. 2015 Jun; 23(6): 883–886. Published online 2014 Sep 3. doi: 10.1038/ejhg.2014.169

PMCID:: PMC4795062

Abstract Article PDF–1.0M

Select item 45542718.

Rigid Spine Syndrome among Children in Oman

Roshan Koul, Dilip Sankhla, Suad Al-Jahdhami, Renjith Mani, Rana A. Rahim, Saif Al-Yaarubi, Hussein Al-Kindy, Khalid Al-Thihli, Amna Al-Futaisi

Sultan Qaboos Univ Med J. 2015 Aug; 15(3): e364–e369. Published online 2015 Aug 24. doi: 10.18295/squmj.2015.15.03.010

PMCID:: PMC4554271

Abstract Article PDF–507K

Select item 41372869.

Aggresome–Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene

Patrizia Sabatelli, Silvia Castagnaro, Francesca Tagliavini, Martina Chrisam, Francesca Sardone, Laurence Demay, Pascale Richard, Spartaco Santi, Nadir M. Maraldi, Luciano Merlini, Marco Sandri, Paolo Bonaldo

Front Aging Neurosci. 2014; 6: 215. Prepublished online 2014 Jul 23. Published online 2014 Aug 19. doi: 10.3389/fnagi.2014.00215

PMCID:: PMC4137286

Abstract Article PDF–3.3M

Select item 224874710.

Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon

M. Rederstorff, V. Allamand, P. Guicheney, C. Gartioux, P. Richard, D. Chaigne, A. Krol, A. Lescure

Nucleic Acids Res. 2008 Jan; 36(1): 237–244. Published online 2007 Nov 19. doi: 10.1093/nar/gkm1033

PMCID:: PMC2248747

Abstract Article PDF–253K

Select item 162712111.

Rigid spine syndrome and fatal cardiomyopathy.

A F Colver, C R Steer, M J Godman, W S Uttley

Arch Dis Child. 1981 Feb; 56(2): 148–151. doi: 10.1136/adc.56.2.148

PMCID:: PMC1627121

Summary Page Browse PDF–1.0M

Select item 103272712.

The rigid spine syndrome in two sisters.

J A Vanneste, P B Augustijn, F C Stam

J Neurol Neurosurg Psychiatry. 1988 Jan; 51(1): 131–135. doi: 10.1136/jnnp.51.1.131

PMCID:: PMC1032727

Summary Page Browse PDF–1.5M

Select item 102907913.

The rigid spine syndrome.

E T van Munster, E M Joosten, M A van Munster-Uijtdehaage, H J Kruls, H J ter Laak

J Neurol Neurosurg Psychiatry. 1986 Nov; 49(11): 1292–1297. doi: 10.1136/jnnp.49.11.1292

PMCID:: PMC1029079

Summary Page Browse PDF–1.7M

Select item 102848914.

The rigid spine syndrome--a myopathy of uncertain nosological position.

W Poewe, H Willeit, E Sluga, U Mayr

J Neurol Neurosurg Psychiatry. 1985 Sep; 48(9): 887–893. doi: 10.1136/jnnp.48.9.887

PMCID:: PMC1028489

Summary Page Browse PDF–1.7M

Select item 101429715.

Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy.

L Palmucci, T Mongini, C Doriguzzi, M Maniscalco, D Schiffer

J Neurol Neurosurg Psychiatry. 1991 Jan; 54(1): 42–45. doi: 10.1136/jnnp.54.1.42

PMCID:: PMC1014297

Summary Page Browse PDF–1.1M

Select item 101425716.

Rigid spine syndrome with respiratory failure.

H Morita, K Kondo, K Hoshino, K Maruyama, N Yanagisawa

J Neurol Neurosurg Psychiatry. 1990 Sep; 53(9): 782–784. doi: 10.1136/jnnp.53.9.782

PMCID:: PMC1014257

Summary Page Browse PDF–895K

Select item 49073317.

Rigid spine syndrome

Ikuo Goto, Susumu Nagasaka, Hitoshi Nagara, Yoshigoro Kuroiwa

J Neurol Neurosurg Psychiatry. 1979 Mar; 42(3): 276–279. doi: 10.1136/jnnp.42.3.276

PMCID:: PMC490733

Summary Page Browse PDF–1.2M

Select item 37853218.

Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

Ana Ferreiro, Susana Quijano-Roy, Claire Pichereau, Behzad Moghadaszadeh, Nathalie Goemans, Carsten Bönnemann, Heinz Jungbluth, Volker Straub, Marcello Villanova, Jean-Paul Leroy, Norma B. Romero, Jean-Jacques Martin, Francesco Muntoni, Thomas Voit, Brigitte Estournet, Pascale Richard, Michel Fardeau, Pascale Guicheney

Am J Hum Genet. 2002 Oct; 71(4): 739–749. Published online 2002 Aug 21. doi: 10.1086/342719

PMCID:: PMC378532

Abstract Article PDF–446K

Select item 1003198219.

Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

Nastasia Cardone, Melissa Moula, Rianne J. Baelde, Ariane Biquand, Marcello Villanova, Corinne Metay, Chiara Fiorillo, Serena Baratto, Luciano Merlini, Patrizia Sabatelli, Norma B. Romero, Frederic Relaix, François Jérôme Authier, Valentina Taglietti, Marco Savarese, Josine de Winter, Coen Ottenheijm, Isabelle Richard, Edoardo Malfatti

Acta Neuropathol Commun. 2023; 11: 48. Published online 2023 Mar 21. doi: 10.1186/s40478-023-01539-4

PMCID:: PMC10031982

Abstract Article PDF–1.9M

Select item 952534020.

Anästhesie bei einer thoraxchirurgischen Patientin mit kongenitaler Muskeldystrophie Typ Ullrich

Thomas Hachenberg, Thorsten Walles, Eva Lücke, Thomas Schilling

Anaesthesiologie. 2022; 71(10): 784–788. German. Published online 2022 May 30. doi: 10.1007/s00101-022-01124-9

PMCID:: PMC9525340

Abstract Article PDF–758K

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