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21.
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Pain and small fiber function in Charcot-Marie-Tooth disease type 1A. [electronic resource] by
- Laurà, Matilde
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- Blake, Julian
- Lunn, Michael P
- Fox, Zoe
- Pareyson, Davide
- Solari, Alessandra
- Radice, Davide
- Koltzenburg, Martin
- Reilly, Mary M
Producer: 20141006
In:
Muscle & nerve vol. 50
Availability: No items available.
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22.
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A pilot study of proximal strength training in Charcot-Marie-Tooth disease. [electronic resource] by
- Ramdharry, Gita M
- Pollard, Alexander
- Anderson, Cheryl
- Laurá, Matilde
- Murphy, Sinead M
- Dudziec, Magdalena
- Dewar, Elizabeth L
- Hutton, Elspeth
- Grant, Robert
- Reilly, Mary M
Producer: 20151016
In:
Journal of the peripheral nervous system : JPNS vol. 19
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23.
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Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. [electronic resource] by
- Murphy, Sinéad M
- Ernst, Daniela
- Wei, Yu
- Laurà, Matilde
- Liu, Yo-Tsen
- Polke, James
- Blake, Julian
- Winer, John
- Houlden, Henry
- Hornemann, Thorsten
- Reilly, Mary M
Producer: 20130730
In:
Neurology vol. 80
Availability: No items available.
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24.
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A study of physical activity comparing people with Charcot-Marie-Tooth disease to normal control subjects. [electronic resource] by
- Ramdharry, Gita M
- Pollard, Alexander J
- Grant, Robert
- Dewar, Elizabeth L
- Laurá, Matilde
- Moore, Sarah A
- Hallsworth, Kate
- Ploetz, Thomas
- Trenell, Michael I
- Reilly, Mary M
Producer: 20180322
In:
Disability and rehabilitation vol. 39
Availability: No items available.
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25.
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Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease. [electronic resource] by
- Burns, Joshua
- Ouvrier, Robert
- Estilow, Tim
- Shy, Rosemary
- Laurá, Matilde
- Eichinger, Kate
- Muntoni, Francesco
- Reilly, Mary M
- Pareyson, Davide
- Acsadi, Gyula
- Shy, Michael E
- Finkel, Richard S
Producer: 20121212
In:
Clinical biomechanics (Bristol, Avon) vol. 27
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26.
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Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. [electronic resource] by
- Penno, Anke
- Reilly, Mary M
- Houlden, Henry
- Laurá, Matilde
- Rentsch, Katharina
- Niederkofler, Vera
- Stoeckli, Esther T
- Nicholson, Garth
- Eichler, Florian
- Brown, Robert H
- von Eckardstein, Arnold
- Hornemann, Thorsten
Producer: 20100504
In:
The Journal of biological chemistry vol. 285
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27.
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Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease. [electronic resource] by
- Cortese, Andrea
- Wilcox, Janel E
- Polke, James M
- Poh, Roy
- Skorupinska, Mariola
- Rossor, Alexander M
- Laura, Matilde
- Tomaselli, Pedro J
- Houlden, Henry
- Shy, Michael E
- Reilly, Mary M
Producer: 20200323
In:
Neurology vol. 94
Availability: No items available.
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28.
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X inactivation in females with X-linked Charcot-Marie-Tooth disease. [electronic resource] by
- Murphy, Sinéad M
- Ovens, Richard
- Polke, James
- Siskind, Carly E
- Laurà, Matilde
- Bull, Karen
- Ramdharry, Gita
- Houlden, Henry
- Murphy, Raymond P J
- Shy, Michael E
- Reilly, Mary M
Producer: 20121113
In:
Neuromuscular disorders : NMD vol. 22
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29.
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SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome. [electronic resource] by
- Horga, Alejandro
- Tomaselli, Pedro J
- Gonzalez, Michael A
- Laurà, Matilde
- Muntoni, Francesco
- Manzur, Adnan Y
- Hanna, Michael G
- Blake, Julian C
- Houlden, Henry
- Züchner, Stephan
- Reilly, Mary M
Producer: 20170509
In:
Neurology vol. 87
Availability: No items available.
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30.
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Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis. [electronic resource] by
- Sadjadi, Reza
- Reilly, Mary M
- Shy, Michael E
- Pareyson, Davide
- Laura, Matilde
- Murphy, Sinead
- Feely, Shawna M E
- Grider, Tiffany
- Bacon, Chelsea
- Piscosquito, Giuseppe
- Calabrese, Daniela
- Burns, Ted M
Producer: 20151203
In:
Journal of the peripheral nervous system : JPNS vol. 19
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31.
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Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity. [electronic resource] by
- Ernst, Daniela
- Murphy, Sinéad M
- Sathiyanadan, Karthik
- Wei, Yu
- Othman, Alaa
- Laurá, Matilde
- Liu, Yo-Tsen
- Penno, Anke
- Blake, Julian
- Donaghy, Michael
- Houlden, Henry
- Reilly, Mary M
- Hornemann, Thorsten
Producer: 20151209
In:
Neuromolecular medicine vol. 17
Availability: No items available.
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32.
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Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. [electronic resource] by
- Liu, Yo-Tsen
- Hersheson, Joshua
- Plagnol, Vincent
- Fawcett, Katherine
- Duberley, Kate E C
- Preza, Elisavet
- Hargreaves, Iain P
- Chalasani, Annapurna
- Laurá, Matilde
- Wood, Nick W
- Reilly, Mary M
- Houlden, Henry
Producer: 20140605
In:
Journal of neurology, neurosurgery, and psychiatry vol. 85
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33.
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Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. [electronic resource] by
- Burns, Joshua
- Ouvrier, Robert
- Estilow, Tim
- Shy, Rosemary
- Laurá, Matilde
- Pallant, Julie F
- Lek, Monkol
- Muntoni, Francesco
- Reilly, Mary M
- Pareyson, Davide
- Acsadi, Gyula
- Shy, Michael E
- Finkel, Richard S
Producer: 20120606
In:
Annals of neurology vol. 71
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34.
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Mutations in noncoding regions of [electronic resource] by
- Tomaselli, Pedro J
- Rossor, Alexander M
- Horga, Alejandro
- Jaunmuktane, Zane
- Carr, Aisling
- Saveri, Paola
- Piscosquito, Giuseppe
- Pareyson, Davide
- Laura, Matilde
- Blake, Julian C
- Poh, Roy
- Polke, James
- Houlden, Henry
- Reilly, Mary M
Producer: 20170523
In:
Neurology vol. 88
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35.
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MFN2 deletion of exons 7 and 8: founder mutation in the UK population. [electronic resource] by
- Carr, Aisling S
- Polke, James M
- Wilson, Jacob
- Pelayo-Negro, Ana L
- Laura, Matilde
- Nanji, Tina
- Holt, James
- Vaughan, Jennifer
- Rankin, Julia
- Sweeney, Mary G
- Blake, Julian
- Houlden, Henry
- Reilly, Mary M
Producer: 20160526
In:
Journal of the peripheral nervous system : JPNS vol. 20
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36.
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Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease. [electronic resource] by
- Burns, Joshua
- Menezes, Manoj
- Finkel, Richard S
- Estilow, Tim
- Moroni, Isabella
- Pagliano, Emanuela
- Laurá, Matilde
- Muntoni, Francesco
- Herrmann, David N
- Eichinger, Kate
- Shy, Rosemary
- Pareyson, Davide
- Reilly, Mary M
- Shy, Michael E
Producer: 20140123
In:
Journal of the peripheral nervous system : JPNS vol. 18
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37.
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Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion. [electronic resource] by
- Voermans, Nicol C
- Kleefstra, Tjitske
- Gabreëls-Festen, Anneke A
- Faas, Brigitte H W
- Kamsteeg, Erik-Jan
- Houlden, Henry
- Laurá, Matilde
- Polke, James M
- Pandraud, Amelie
- van Ruissen, Fred
- van Engelen, Baziel G
- Reilly, Mary M
Producer: 20121029
In:
Journal of the peripheral nervous system : JPNS vol. 17
Availability: No items available.
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38.
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Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. [electronic resource] by
- Pareyson, Davide
- Reilly, Mary M
- Schenone, Angelo
- Fabrizi, Gian Maria
- Cavallaro, Tiziana
- Santoro, Lucio
- Vita, Giuseppe
- Quattrone, Aldo
- Padua, Luca
- Gemignani, Franco
- Visioli, Francesco
- Laurà, Matilde
- Radice, Davide
- Calabrese, Daniela
- Hughes, Richard A C
- Solari, Alessandra
Producer: 20110615
In:
The Lancet. Neurology vol. 10
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39.
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Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity. [electronic resource] by
- Wallace, Amanda
- Pietrusz, Aleksandra
- Dewar, Elizabeth
- Dudziec, Magdalena
- Jones, Katherine
- Hennis, Philip
- Sterr, Annette
- Baio, Gianluca
- Machado, Pedro M
- Laurá, Matilde
- Skorupinska, Iwona
- Skorupinska, Mariola
- Butcher, Karen
- Trenell, Michael
- Reilly, Mary M
- Hanna, Michael G
- Ramdharry, Gita M
Producer: 20191216
In:
Neurology vol. 92
Availability: No items available.
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40.
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Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). [electronic resource] by
- Panosyan, Francis B
- Laura, Matilde
- Rossor, Alexander M
- Pisciotta, Chiara
- Piscosquito, Giuseppe
- Burns, Joshua
- Li, Jun
- Yum, Sabrina W
- Lewis, Richard A
- Day, John
- Horvath, Rita
- Herrmann, David N
- Shy, Michael E
- Pareyson, Davide
- Reilly, Mary M
- Scherer, Steven S
Producer: 20170901
In:
Neurology vol. 89
Availability: No items available.
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