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1
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
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Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

Monies, Dorota M ; Al-Hindi, Hindi N ; Al-Muhaizea, Mohamed A ; Jaroudi, Dyala J ; Al-Younes, Banan ; Naim, Ewa A ; Wakil, Salma M ; Meyer, Brian F ; Bohlega, Saeed

Neuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.353-359 [Periódico revisado por pares]

England: Elsevier B.V

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2
A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family
A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family
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A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family

Wakil, Salma M ; Bohlega, Saeed ; Hagos, Samya ; Baz, Batoul ; Al Dossari, Haya ; Ramzan, Khushnooda ; Al-Hassnan, Zuhair N

European journal of medical genetics, 2013-01, Vol.56 (1), p.43-45 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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3
Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features
Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features
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Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features

Cupler, Edward J ; Bohlega, Saeed ; Hessler, Richard ; McLean, Donald ; Stigsby, Bent ; Ahmad, Javed

Neuromuscular disorders : NMD, 1998-06, Vol.8 (5), p.321-326 [Periódico revisado por pares]

England: Elsevier B.V

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4
Mutations in the J domain of DNAJB6 cause dominant distal myopathy
Mutations in the J domain of DNAJB6 cause dominant distal myopathy
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Mutations in the J domain of DNAJB6 cause dominant distal myopathy

Palmio, Johanna ; Jonson, Per Harald ; Inoue, Michio ; Sarparanta, Jaakko ; Bengoechea, Rocio ; Savarese, Marco ; Vihola, Anna ; Jokela, Manu ; Nakagawa, Masanori ; Noguchi, Satoru ; Olivé, Montse ; Masingue, Marion ; Kerty, Emilia ; Hackman, Peter ; Weihl, Conrad C. ; Nishino, Ichizo ; Udd, Bjarne

Neuromuscular disorders : NMD, 2020-01, Vol.30 (1), p.38-46 [Periódico revisado por pares]

England: Elsevier B.V

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5
The role of the PLA2G6 gene in neurodegenerative diseases
The role of the PLA2G6 gene in neurodegenerative diseases
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The role of the PLA2G6 gene in neurodegenerative diseases

Deng, Xinyue ; Yuan, Lamei ; Jankovic, Joseph ; Deng, Hao

Ageing research reviews, 2023-08, Vol.89, p.101957-101957, Article 101957 [Periódico revisado por pares]

England: Elsevier B.V

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