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81.
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The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM). [electronic resource] by
- Eichinger, Katy
- Burns, Joshua
- Cornett, Kayla
- Bacon, Chelsea
- Shepherd, Mary Lohse
- Mountain, Joan
- Sowden, Janet
- Shy, Rosemary
- Shy, Michael E
- Herrmann, David N
Producer: 20190826
In:
Neurology vol. 91
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82.
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Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration. [electronic resource] by
- Li, Jun
- Bai, Yunhong
- Ianakova, Emilia
- Grandis, Marina
- Uchwat, Fred
- Trostinskaia, Anna
- Krajewski, Karen M
- Garbern, James
- Kupsky, William J
- Shy, Michael E
Producer: 20070116
In:
The Journal of comparative neurology vol. 498
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83.
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The Charcot-Marie-Tooth Health Index: Evaluation of a Patient-Reported Outcome. [electronic resource] by
- Johnson, Nicholas E
- Heatwole, Chad
- Creigh, Peter
- McDermott, Michael P
- Dilek, Nuran
- Hung, Man
- Bounsanga, Jerry
- Tang, Wan
- Shy, Michael E
- Herrmann, David N
Producer: 20190820
In:
Annals of neurology vol. 84
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84.
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85.
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Increased survival and function of SOD1 mice after glial cell-derived neurotrophic factor gene therapy. [electronic resource] by
- Acsadi, Gyula
- Anguelov, Roumen A
- Yang, Huibin
- Toth, Gabor
- Thomas, Ronald
- Jani, Agnes
- Wang, Yuying
- Ianakova, Emilia
- Mohammad, Sulaiman
- Lewis, Richard A
- Shy, Michael E
Producer: 20020927
In:
Human gene therapy vol. 13
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86.
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Schwann cell transcript biomarkers for hereditary neuropathy skin biopsies. [electronic resource] by
- Svaren, John
- Moran, John J
- Wu, Xingyao
- Zuccarino, Riccardo
- Bacon, Chelsea
- Bai, Yunhong
- Ramesh, Raghu
- Gutmann, Laurie
- Anderson, Daniel M
- Pavelec, Derek
- Shy, Michael E
Producer: 20200330
In:
Annals of neurology vol. 85
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87.
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SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. [electronic resource] by
- Saifi, Gulam Mustafa
- Szigeti, Kinga
- Wiszniewski, Wojciech
- Shy, Michael E
- Krajewski, Karen
- Hausmanowa-Petrusewicz, Irena
- Kochanski, Andrzej
- Reeser, Suzanne
- Mancias, Pedro
- Butler, Ian
- Lupski, James R
Producer: 20060717
In:
Human mutation vol. 25
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88.
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Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. [electronic resource] by
- Bai, Yunhong
- Ianokova, Emilia
- Pu, Qin
- Ghandour, Khaled
- Levinson, Rock
- Martin, Jean-Jacques
- Ceuterick-de Groote, Chantal
- Mazanec, Radim
- Seeman, Pavel
- Shy, Michael E
- Li, Jun
Producer: 20070123
In:
Archives of neurology vol. 63
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89.
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Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E. [electronic resource] by
- Pisciotta, Chiara
- Bai, Yunhong
- Brennan, Kathryn M
- Wu, Xingyao
- Grider, Tiffany
- Feely, Shawna
- Wang, Suola
- Moore, Steven
- Siskind, Carly
- Gonzalez, Michael
- Zuchner, Stephan
- Shy, Michael E
Producer: 20151016
In:
Neurology vol. 85
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90.
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Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges. [electronic resource] by
- Jerath, Nivedita U
- Mankodi, Ami
- Crawford, Thomas O
- Grunseich, Christopher
- Baloui, Hasna
- Nnamdi-Emeratom, Chioma
- Schindler, Alice B
- Heiman-Patterson, Terry
- Chrast, Roman
- Shy, Michael E
Producer: 20190327
In:
Muscle & nerve vol. 57
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91.
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Phenotypic clustering in MPZ mutations. [electronic resource] by
- Shy, Michael E
- Jáni, Agnes
- Krajewski, Karen
- Grandis, Marina
- Lewis, Richard A
- Li, Jun
- Shy, Rosemary R
- Balsamo, Janne
- Lilien, Jack
- Garbern, James Y
- Kamholz, John
Producer: 20040224
In:
Brain : a journal of neurology vol. 127
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92.
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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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93.
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Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation. [electronic resource] by
- Jerath, Nivedita U
- Crockett, Cameron D
- Moore, Steven A
- Shy, Michael E
- Weihl, Conrad C
- Chou, Tsui-Fen
- Grider, Tiffany
- Gonzalez, Michael A
- Zuchner, Stephan
- Swenson, Andrea
Producer: 20150416
In:
Case reports in genetics vol. 2015
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94.
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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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95.
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Neuropathy in a human without the PMP22 gene. [electronic resource] by
- Saporta, Mario Andre
- Katona, Istvan
- Zhang, Xuebao
- Roper, Helen P
- McClelland, Louise
- Macdonald, Fiona
- Brueton, Louise
- Blake, Julian
- Suter, Ueli
- Reilly, Mary M
- Shy, Michael E
- Li, Jun
Producer: 20110812
In:
Archives of neurology vol. 68
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96.
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Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2. [electronic resource] by
- Brewer, Megan Hwa
- Ma, Ki Hwan
- Beecham, Gary W
- Gopinath, Chetna
- Baas, Frank
- Choi, Byung-Ok
- Reilly, Mary M
- Shy, Michael E
- Züchner, Stephan
- Svaren, John
- Antonellis, Anthony
Producer: 20150528
In:
Human molecular genetics vol. 23
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97.
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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
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98.
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Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside. [electronic resource] by
- Li, Jun
- Bai, Yunhong
- Ghandour, Khaled
- Qin, Pu
- Grandis, Marina
- Trostinskaia, Anna
- Ianakova, Emilia
- Wu, Xingyao
- Schenone, Angelo
- Vallat, Jean-Michel
- Kupsky, William J
- Hatfield, James
- Shy, Michael E
Producer: 20050610
In:
Brain : a journal of neurology vol. 128
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99.
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Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. [electronic resource] by
- Paulson, Henry L
- Garbern, James Y
- Hoban, Timothy F
- Krajewski, Karen M
- Lewis, Richard A
- Fischbeck, Kenneth H
- Grossman, Robert I
- Lenkinski, Robert
- Kamholz, John A
- Shy, Michael E
Producer: 20021024
In:
Annals of neurology vol. 52
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100.
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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
Availability: No items available.
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