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502.
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503.
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A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family. [electronic resource] by
- Baranello, Giovanni
- Saredi, Simona
- Sansanelli, Serena
- Savadori, Paolo
- Canioni, Eleonora
- Chiapparini, Luisa
- Balestri, Paolo
- Malandrini, Alessandro
- Arnoldi, Maria Teresa
- Pantaleoni, Chiara
- Morandi, Lucia
- Mora, Marina
Producer: 20150821
In:
Neuromuscular disorders : NMD vol. 25
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504.
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Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. [electronic resource] by
- Godfrey, Caroline
- Clement, Emma
- Mein, Rachael
- Brockington, Martin
- Smith, Janine
- Talim, Beril
- Straub, Volker
- Robb, Stephanie
- Quinlivan, Ros
- Feng, Lucy
- Jimenez-Mallebrera, Cecilia
- Mercuri, Eugenio
- Manzur, Adnan Y
- Kinali, Maria
- Torelli, Silvia
- Brown, Susan C
- Sewry, Caroline A
- Bushby, Kate
- Topaloglu, Haluk
- North, Kathryn
- Abbs, Stephen
- Muntoni, Francesco
Producer: 20071113
In:
Brain : a journal of neurology vol. 130
Availability: No items available.
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Vascular delivery of rAAVrh74.MCK.GALGT2 to the gastrocnemius muscle of the rhesus macaque stimulates the expression of dystrophin and laminin α2 surrogates. [electronic resource] by
- Chicoine, Louis G
- Rodino-Klapac, Louise R
- Shao, Guohong
- Xu, Rui
- Bremer, William G
- Camboni, Marybeth
- Golden, Bethannie
- Montgomery, Chrystal L
- Shontz, Kimberly
- Heller, Kristin N
- Griffin, Danielle A
- Lewis, Sarah
- Coley, Brian D
- Walker, Christopher M
- Clark, K Reed
- Sahenk, Zarife
- Mendell, Jerry R
- Martin, Paul T
Producer: 20150219
In:
Molecular therapy : the journal of the American Society of Gene Therapy vol. 22
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509.
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Clinical features of the myasthenic syndrome arising from mutations in GMPPB. [electronic resource] by
- Rodríguez Cruz, Pedro M
- Belaya, Katsiaryna
- Basiri, Keivan
- Sedghi, Maryam
- Farrugia, Maria Elena
- Holton, Janice L
- Liu, Wei Wei
- Maxwell, Susan
- Petty, Richard
- Walls, Timothy J
- Kennett, Robin
- Pitt, Matthew
- Sarkozy, Anna
- Parton, Matt
- Lochmüller, Hanns
- Muntoni, Francesco
- Palace, Jacqueline
- Beeson, David
Producer: 20170525
In:
Journal of neurology, neurosurgery, and psychiatry vol. 87
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510.
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Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG. [electronic resource] by
- van Tol, Walinka
- Michelakakis, Helen
- Georgiadou, Elissavet
- van den Bergh, Peter
- Moraitou, Marina
- Papadimas, George K
- Papadopoulos, Constantinos
- Huijben, Karin
- Alsady, Mohammad
- Willemsen, Michèl A
- Lefeber, Dirk J
Producer: 20200916
In:
Journal of inherited metabolic disease vol. 42
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511.
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512.
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Clinical heterogeneity of adhalin deficiency. [electronic resource] by
- Morandi, L
- Barresi, R
- Di Blasi, C
- Jung, D
- Sunada, Y
- Confalonieri, V
- Dworzak, F
- Mantegazza, R
- Antozzi, C
- Jarre, L
- Pini, A
- Gobbi, G
- Bianchi, C
- Cornelio, F
- Campbell, K P
- Mora, M
Producer: 19961212
In:
Annals of neurology vol. 39
Availability: No items available.
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519.
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