Results
|
|
101.
|
Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy. [electronic resource] by
- Shy, Michael E
- Hobson, Grace
- Jain, Manisha
- Boespflug-Tanguy, Odile
- Garbern, James
- Sperle, Karen
- Li, Wen
- Gow, Alex
- Rodriguez, Diana
- Bertini, Enrico
- Mancias, Pedro
- Krajewski, Karen
- Lewis, Richard
- Kamholz, John
Producer: 20030325
In:
Annals of neurology vol. 53
Availability: No items available.
|
|
|
102.
|
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
Availability: No items available.
|
|
|
103.
|
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. [electronic resource] by
- Shy, Michael E
- Scavina, Mena T
- Clark, Alisa
- Krajewski, Karen M
- Li, Jun
- Kamholz, John
- Kolodny, Edwin
- Szigeti, Kinga
- Fischer, Richard A
- Saifi, Gulam Mustafa
- Scherer, Steven S
- Lupski, James R
Producer: 20060425
In:
Annals of neurology vol. 59
Availability: No items available.
|
|
|
104.
|
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. [electronic resource] by
- Grandis, Marina
- Vigo, Tiziana
- Passalacqua, Mario
- Jain, Manisha
- Scazzola, Sara
- La Padula, Veronica
- Brucal, Michelle
- Benvenuto, Federica
- Nobbio, Lucilla
- Cadoni, Angela
- Mancardi, Gian Luigi
- Kamholz, John
- Shy, Michael E
- Schenone, Angelo
Producer: 20080723
In:
Human molecular genetics vol. 17
Availability: No items available.
|
|
|
105.
|
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. [electronic resource] by
- Gonzalez, Michael A
- Feely, Shawna M
- Speziani, Fiorella
- Strickland, Alleene V
- Danzi, Matt
- Bacon, Chelsea
- Lee, Youjin
- Chou, Tsui-Fen
- Blanton, Susan H
- Weihl, Conrad C
- Zuchner, Stephan
- Shy, Michael E
Producer: 20150209
In:
Brain : a journal of neurology vol. 137
Availability: No items available.
|
|
|
106.
|
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. [electronic resource] by
- Chow, Clement Y
- Zhang, Yanling
- Dowling, James J
- Jin, Natsuko
- Adamska, Maja
- Shiga, Kensuke
- Szigeti, Kinga
- Shy, Michael E
- Li, Jun
- Zhang, Xuebao
- Lupski, James R
- Weisman, Lois S
- Meisler, Miriam H
Producer: 20070827
In:
Nature vol. 448
Availability: No items available.
|
|
|
107.
|
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
Availability: No items available.
|
|
|
108.
|
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. [electronic resource] by
- Rebelo, Adriana P
- Saade, Dimah
- Pereira, Claudia V
- Farooq, Amjad
- Huff, Tyler C
- Abreu, Lisa
- Moraes, Carlos T
- Mnatsakanova, Diana
- Mathews, Kathy
- Yang, Hua
- Schon, Eric A
- Zuchner, Stephan
- Shy, Michael E
Producer: 20190627
In:
Brain : a journal of neurology vol. 141
Availability: No items available.
|
|
|
109.
|
Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice. [electronic resource] by
- Patzkó, Agnes
- Bai, Yunhong
- Saporta, Mario A
- Katona, István
- Wu, Xingyao
- Vizzuso, Domenica
- Feltri, M Laura
- Wang, Suola
- Dillon, Lisa M
- Kamholz, John
- Kirschner, Daniel
- Sarkar, Fazlul H
- Wrabetz, Lawrence
- Shy, Michael E
Producer: 20130215
In:
Brain : a journal of neurology vol. 135
Availability: No items available.
|
|
|
110.
|
Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease. [electronic resource] by
- Brennan, Kathryn M
- Bai, Yunhong
- Pisciotta, Chiara
- Wang, Suola
- Feely, Shawna M E
- Hoegger, Mark
- Gutmann, Laurie
- Moore, Steven A
- Gonzalez, Michael
- Sherman, Diane L
- Brophy, Peter J
- Züchner, Stephan
- Shy, Michael E
Producer: 20160613
In:
Neuromuscular disorders : NMD vol. 25
Availability: No items available.
|
|
|
111.
|
Novel mutations in [electronic resource] by
- Manganelli, Fiore
- Parisi, Silvia
- Nolano, Maria
- Tao, Feifei
- Paladino, Simona
- Pisciotta, Chiara
- Tozza, Stefano
- Nesti, Claudia
- Rebelo, Adriana P
- Provitera, Vincenzo
- Santorelli, Filippo M
- Shy, Michael E
- Russo, Tommaso
- Zuchner, Stephan
- Santoro, Lucio
Producer: 20170605
In:
Neurology vol. 88
Availability: No items available.
|
|
|
112.
|
Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A. [electronic resource] by
- Morrow, Jasper M
- Evans, Matthew R B
- Grider, Tiffany
- Sinclair, Christopher D J
- Thedens, Daniel
- Shah, Sachit
- Yousry, Tarek A
- Hanna, Michael G
- Nopoulos, Peggy
- Thornton, John S
- Shy, Michael E
- Reilly, Mary M
Producer: 20190830
In:
Neurology vol. 91
Availability: No items available.
|
|
|
113.
|
High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial. [electronic resource] by
- Lewis, Richard A
- McDermott, Michael P
- Herrmann, David N
- Hoke, Ahmet
- Clawson, Lora L
- Siskind, Carly
- Feely, Shawna M E
- Miller, Lindsey J
- Barohn, Richard J
- Smith, Patricia
- Luebbe, Elizabeth
- Wu, Xingyao
- Shy, Michael E
Producer: 20131115
In:
JAMA neurology vol. 70
Availability: No items available.
|
|
|
114.
|
MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics. [electronic resource] by
- Larrea, Delfina
- Pera, Marta
- Gonnelli, Adriano
- Quintana-Cabrera, Rubén
- Akman, H Orhan
- Guardia-Laguarta, Cristina
- Velasco, Kevin R
- Area-Gomez, Estela
- Dal Bello, Federica
- De Stefani, Diego
- Horvath, Rita
- Shy, Michael E
- Schon, Eric A
- Giacomello, Marta
Producer: 20200206
In:
Human molecular genetics vol. 28
Availability: No items available.
|
|
|
115.
|
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. [electronic resource] by
- Saporta, Mario A C
- Shy, Brian R
- Patzko, Agnes
- Bai, Yunhong
- Pennuto, Maria
- Ferri, Cinzia
- Tinelli, Elisa
- Saveri, Paola
- Kirschner, Dan
- Crowther, Michelle
- Southwood, Cherie
- Wu, Xingyao
- Gow, Alexander
- Feltri, M Laura
- Wrabetz, Lawrence
- Shy, Michael E
Producer: 20120913
In:
Brain : a journal of neurology vol. 135
Availability: No items available.
|
|
|
116.
|
Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation. [electronic resource] by
- Garbern, James Y
- Yool, Donald A
- Moore, Gregory J
- Wilds, Ian B
- Faulk, Michael W
- Klugmann, Matthias
- Nave, Klaus-Amin
- Sistermans, Erik A
- van der Knaap, Marjo S
- Bird, Thomas D
- Shy, Michael E
- Kamholz, John A
- Griffiths, Ian R
Producer: 20020503
In:
Brain : a journal of neurology vol. 125
Availability: No items available.
|
|
|
117.
|
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.
|
|
|
118.
|
Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age. [electronic resource] by
- Eschbach, Judith
- Sinniger, Jérôme
- Bouitbir, Jamal
- Fergani, Anissa
- Schlagowski, Anna-Isabel
- Zoll, Joffrey
- Geny, Bernard
- René, Frédérique
- Larmet, Yves
- Marion, Vincent
- Baloh, Robert H
- Harms, Matthew B
- Shy, Michael E
- Messadeq, Nadia
- Weydt, Patrick
- Loeffler, Jean-Philippe
- Ludolph, Albert C
- Dupuis, Luc
Producer: 20140423
In:
Neurobiology of disease vol. 58
Availability: No items available.
|
|
|
119.
|
Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A. [electronic resource] by
- Wang, Hongge
- Davison, Matthew
- Wang, Kathryn
- Xia, Tai-He
- Kramer, Martin
- Call, Katherine
- Luo, Jun
- Wu, Xingyao
- Zuccarino, Riccardo
- Bacon, Chelsea
- Bai, Yunhong
- Moran, John J
- Gutmann, Laurie
- Feely, Shawna M E
- Grider, Tiffany
- Rossor, Alexander M
- Reilly, Mary M
- Svaren, John
- Shy, Michael E
Producer: 20210201
In:
Annals of clinical and translational neurology vol. 7
Availability: No items available.
|
|
|
120.
|
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. [electronic resource] by
- Abbott, Jamie A
- Meyer-Schuman, Rebecca
- Lupo, Vincenzo
- Feely, Shawna
- Mademan, Inès
- Oprescu, Stephanie N
- Griffin, Laurie B
- Alberti, M Antonia
- Casasnovas, Carlos
- Aharoni, Sharon
- Basel-Vanagaite, Lina
- Züchner, Stephan
- De Jonghe, Peter
- Baets, Jonathan
- Shy, Michael E
- Espinós, Carmen
- Demeler, Borries
- Antonellis, Anthony
- Francklyn, Christopher
Producer: 20190328
In:
Human mutation vol. 39
Availability: No items available.
|