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chris hall

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Agnes Patzkó; Mario A Saporta; Fazlul H Sarkar; Yunhong Bai; Lisa M Dillon; M Laura Feltri; John Kamholz; István Katona; Daniel Kirschner; Domenica Vizzuso; Suola Wang; Lawrence Wrabetz; Xingyao Wu; chris hall
Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice.
chris hall
Lessons from London.
Joshua Burns; Kate Eichinger; Tim Estilow; Matilde Laurá; Francesco Muntoni; Robert Ouvrier; Davide Pareyson; Mary M Reilly; chris hall; Rosemary Shy; Gyula Acsadi; Richard S Finkel
Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease.

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All Publications

2012: Agnes Patzkó; Mario A Saporta; Fazlul H Sarkar; Yunhong Bai; Lisa M Dillon; M Laura Feltri; John Kamholz; István Katona; Daniel Kirschner; Domenica Vizzuso; Suola Wang; Lawrence Wrabetz; Xingyao Wu; chris hall
Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice.
Brain : a journal of neurology 2012;135(Pt 12):3551-66.
2012: chris hall
Lessons from London.
Journal of neurology, neurosurgery, and psychiatry 2012;83(8):767-8.
2012: Joshua Burns; Kate Eichinger; Tim Estilow; Matilde Laurá; Francesco Muntoni; Robert Ouvrier; Davide Pareyson; Mary M Reilly; chris hall; Rosemary Shy; Gyula Acsadi; Richard S Finkel
Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease.
Clinical biomechanics (Bristol, Avon) 2012;27(7):744-7.
2012: Mario A C Saporta; Paola Saveri; Brian R Shy; Cherie Southwood; Elisa Tinelli; Lawrence Wrabetz; Xingyao Wu; Yunhong Bai; Michelle Crowther; M Laura Feltri; Cinzia Ferri; Alexander Gow; Dan Kirschner; Agnes Patzko; Maria Pennuto; chris hall
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.
Brain : a journal of neurology 2012;135(Pt 7):2032-47.
2012: Sinéad M Murphy; Richard Ovens; James Polke; Gita Ramdharry; Karen Bull; Henry Houlden; Matilde Laurà; Raymond P J Murphy; chris hall; Carly E Siskind; Mary M Reilly
X inactivation in females with X-linked Charcot-Marie-Tooth disease.
Neuromuscular disorders : NMD 2012;22(7):617-21.
2012: Lindsey J Miller; Agnes Patzko; Richard Alan Lewis; chris hall
Phenotypic presentation of the Ser63Del MPZ mutation.
Journal of the peripheral nervous system : JPNS 2012;17(2):197-200.
2012: M B Harms; A Jani-Acsadi; D Ma; S Masi; L J Miller; F Muntoni; K M Ori-McKenney; A Pestronk; M M Reilly; M Scoto; chris hall; E P Tuck; R B Vallee; Muhammad T Al-Lozi; P Allred; S Bell; R H Baloh
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
Neurology 2012;78(22):1714-20.
2012: Joshua Burns; Tim Estilow; Gyula Acsadi; Matilde Laurá; Monkol Lek; Francesco Muntoni; Robert Ouvrier; Julie F Pallant; Davide Pareyson; Mary M Reilly; chris hall; Rosemary Shy; Richard S Finkel
Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability.
Annals of neurology 2012;71(5):642-52.
2012: Valeria Prada; Sara Scazzola; Angelo Schenone; chris hall; Emilia Bellone; Maria Bono; Simona Capponi; Paola Luzzi; Gianluigi Mancardi; Paola Mandich; Lucilla Alessandra Nobbio; Mario Passalacqua; Marina Grandis
Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.
Annals of neurology 2012;71(3):427-31.
2012: Agnes Patzko; chris hall
Charcot-Marie-Tooth disease and related genetic neuropathies.
Continuum (Minneapolis, Minn.) 2012;18(1):39-59.
2011: Carly E Siskind; chris hall
Genetics of neuropathies.
Seminars in neurology 2011;31(5):494-505.
2011: L J Miller; A S D Saporta; C E Siskind; S L Sottile; S M E Feely; chris hall
Strategy for genetic testing in Charcot-Marie-disease.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2011;30(2):109-16.
2011: chris hall; Agnes Patzkó
Axonal Charcot-Marie-Tooth disease.
Current opinion in neurology 2011;24(5):475-83.
2011: Sinéad M Murphy; David N Herrmann; Michael P McDermott; Mary M Reilly; Steven S Scherer; chris hall; Davide Pareyson
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.
Journal of the peripheral nervous system : JPNS 2011;16(3):191-8.
2011: Jorge L Almodovar; Michele Ferguson; Richard Alan Lewis; Michael P McDermott; chris hall; David N Herrmann
In vivo confocal microscopy of Meissner corpuscles as a novel sensory measure in CMT1A.
Journal of the peripheral nervous system : JPNS 2011;16(3):169-74.
2011: Carly E Siskind; Sinéad M Murphy; Richard Ovens; James Polke; Mary M Reilly; chris hall
Phenotype expression in women with CMT1X.
Journal of the peripheral nervous system : JPNS 2011;16(2):102-7.
2011: Mario Andre Saporta; chris hall; Ueli Suter; Xuebao Zhang; Julian Blake; Louise Brueton; Istvan Katona; Fiona Macdonald; Louise McClelland; Mary M Reilly; Helen P Roper; Jun Li
Neuropathy in a human without the PMP22 gene.
Archives of neurology 2011;68(6):814-21.
2011: S M E Feely; M Laura; C E Siskind; S Sottile; M Davis; V S Gibbons; M M Reilly; chris hall
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
Neurology 2011;76(20):1690-6.
2011: chris hall
Inherited peripheral neuropathies.
Continuum (Minneapolis, Minn.) 2011;17(2 Neurogenetics):294-315.
2011: Istvan Katona; Xuebao Zhang; Yunhong Bai; chris hall; Jiasong Guo; Qing Yan; James Hatfield; William J Kupsky; Jun Li
Distinct pathogenic processes between Fig4-deficient motor and sensory neurons.
The European journal of neuroscience 2011;33(8):1401-10.
2011: Gladys Montenegro; Eric Powell; Jia Huang; Fiorella Speziani; Yvonne Jemimah Edwards; Gary Beecham; William F Hulme; Carly Siskind; Jeffery Vance; chris hall; Stephan Zuchner
Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.
Annals of neurology 2011;69(3):464-70.
2011: Agnes Patzkó; chris hall
Update on Charcot-Marie-Tooth disease.
Current neurology and neuroscience reports 2011;11(1):78-88.
2011: Anita S D Saporta; Stephanie L Sottile; Lindsey J Miller; Shawna M E Feely; Carly E Siskind; chris hall
Charcot-Marie-Tooth disease subtypes and genetic testing strategies.
Annals of neurology 2011;69(1):22-33.
2010: Mary M Reilly; chris hall; Francesco Muntoni; D Pareyson
168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT).
Neuromuscular disorders : NMD 2010;20(12):839-46.
2010: J Burns; Sindhu Ramchandren; M M Ryan; chris hall; R A Ouvrier
Determinants of reduced health-related quality of life in pediatric inherited neuropathies.
Neurology 2010;75(8):726-31.
2010: chris hall
MUNE and progression of CMT1A.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2010;17(8):997-8.
2010: Jia Huang; Xingyao Wu; Gladys Montenegro; Justin Price; Gaofeng Wang; Jeffery Vance; chris hall; Stephan Zuchner
Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.
Journal of neurology 2010;257(5):735-41.
2010: Marina L Kennerson; Garth A Nicholson; Stephen G Kaler; Bartosz Kowalski; Julian F B Mercer; Jingrong Tang; Roxana Llanos; Shannon Chu; Reinaldo I Takata; Carlos E Speck-Martins; Jonathan Baets; Leonardo Almeida-Souza; Dirk Fischer; Vincent Timmerman; Philip E Taylor; Steven S Scherer; Toby A Ferguson; Thomas D Bird; Peter De Jonghe; Shawna M E Feely; chris hall; James Y Garbern
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
American journal of human genetics 2010;86(3):343-52.
2010: Yunhong Bai; Xuebao Zhang; Istvan Katona; Mario Andre Saporta; chris hall; Heather A O'Malley; Lori L Isom; Ueli Suter; Jun Li
Conduction block in PMP22 deficiency.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2010;30(2):600-8.
2009: Mario A Saporta; Istvan Katona; Richard Alan Lewis; Stacey Masse; chris hall; Jun Li
Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A.
Brain : a journal of neurology 2009;132(Pt 12):3263-73.
2009: Mary M Reilly; chris hall
Diagnosis and new treatments in genetic neuropathies.
Journal of neurology, neurosurgery, and psychiatry 2009;80(12):1304-14.
2009: Sindhu Ramchandren; chris hall; Richard S Finkel
Quality of life in children with CMT type 1A.
Lancet neurology 2009;8(10):880-1; author reply 881.
2009: Istvan Katona; Xingyao Wu; Shawna M E Feely; Stephanie Sottile; Carly E Siskind; Lindsey J Miller; chris hall; Jun Li
PMP22 expression in dermal nerve myelin from patients with CMT1A.
Brain : a journal of neurology 2009;132(Pt 7):1734-40.
2009: chris hall
Ascorbic acid for treatment of CMT1A: the jury is still out.
Lancet neurology 2009;8(6):505-7.
2009: Carly Siskind; Shawna M E Feely; Saunder Bernes; chris hall; James Y Garbern
Persistent CNS dysfunction in a boy with CMT1X.
Journal of the neurological sciences 2009;279(1-2):109-13.
2009: Marina L Kennerson; G Nicholson; B Kowalski; K Krajewski; D El-Khechen; S Feely; S Chu; chris hall; James Y Garbern
X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21.
Neurology 2009;72(3):246-52.
2009: Garth Nicholson; Marina Kennerson; Megan Brewer; James Y Garbern; chris hall
Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes.
Advances in experimental medicine and biology 2009;652():201-6.
2009: chris hall
Biology of peripheral inherited neuropathies: Schwann cell axonal interactions.
Advances in experimental medicine and biology 2009;652():171-81.
2008: Soham Sheth; Kevin Francies; Carly E Siskind; Shawna M E Feely; Richard Alan Lewis; chris hall
Diabetes mellitus exacerbates motor and sensory impairment in CMT1A.
Journal of the peripheral nervous system : JPNS 2008;13(4):299-304.
2008: Clifton Gooch; chris hall
Hereditary motor neuropathy and heat shock proteins: a shocking transformation.
Neurology 2008;71(21):1656-7.
2008: Ki Wha Chung; B C Suh; chris hall; S Y Cho; J H Yoo; S W Park; H Moon; Park KiDeok; Kyoung-Gyu Choi; S Kim; S B Kim; D S Shim; S M Kim; Il Nam Sunwoo; Byung-Ok Choi
Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A.
Neuromuscular disorders : NMD 2008;18(8):610-8.
2008: Xuebao Zhang; Clement Y Chow; Zarife Sahenk; chris hall; Miriam H Meisler; Jun Li
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.
Brain : a journal of neurology 2008;131(Pt 8):1990-2001.
2008: chris hall
Obstructive sleep apnoea and CMT1A: answers and more questions.
Journal of neurology, neurosurgery, and psychiatry 2008;79(7):743-4.
2008: Marina Grandis; Tiziana Vigo; Mario Passalacqua; Manisha Jain; Sara Scazzola; Veronica La Padula; Michelle Brucal; Federica Benvenuto; Lucilla Nobbio; Angela Cadoni; Giovanni Luigi Mancardi; John Kamholz; chris hall; Angelo Schenone
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
Human molecular genetics 2008;17(13):1877-89.
2008: Agnes Jani-Acsadi; Karen M Krajewski; chris hall
Charcot-Marie-Tooth neuropathies: diagnosis and management.
Seminars in neurology 2008;28(2):185-94.
2008: Luca Padua; chris hall; Irene Aprile; Tiziana Cavallaro; Davide Pareyson; Aldo Quattrone; Nicolo Rizzuto; Giuseppe Vita; Pietro Tonali; Angelo Schenone
Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A.
Journal of the peripheral nervous system : JPNS 2008;13(1):64-70.
2008: chris hall; Sumita Chakrabarti; Alan R Gintzler
Plasticity of adenylyl cyclase-related signaling sequelae after long-term morphine treatment.
Molecular pharmacology 2008;73(3):868-79.
2008: chris hall; L Chen; E R Swan; R Taube; Karen M Krajewski; D Herrmann; Richard Alan Lewis; M P McDermott
Neuropathy progression in Charcot-Marie-Tooth disease type 1A.
Neurology 2008;70(5):378-83.
2007: Hee-Jin Kim; Kwang-Min Sohn; chris hall; Karen M Krajewski; Miok Hwang; June-Hee Park; Sue-Yon Jang; Hong-Hee Won; Byung-Ok Choi; Sung Hwa Hong; Byoung-Joon Kim; Yeon-Lim Suh; Ki Chang-Seok; Soo-Youn Lee; Sun-Hee Kim; Jong-Won Kim
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).
American journal of human genetics 2007;81(3):552-8.
2007: Clement Y Chow; Yanling Zhang; James Dowling; Natsuko Jin; Maja Adamska; Kensuke Shiga; Kinga Szigeti; chris hall; Jun Li; Xuebao Zhang; James R Lupski; Lois S Weisman; Miriam H Meisler
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
Nature 2007;448(7149):68-72.
2007: Jun Li; Khaled Ghandour; Danuijola Radovanovic; Danuijola Radovanovic; Rosemary R Shy; Karen M Krajewski; chris hall; Garth A Nicholson
Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.
Archives of neurology 2007;64(7):974-8.
2007: Ana-Maria Gaboreanu; Ronald Hrstka; Wenbo Xu; chris hall; John Kamholz; Jack Lilien; Janne Balsamo
Myelin protein zero/P0 phosphorylation and function require an adaptor protein linking it to RACK1 and PKC alpha.
The Journal of cell biology 2007;177(4):707-16.
2007: Emily R Swan; Darren R Fuerst; chris hall
Women and men are equally disabled by Charcot-Marie-Tooth disease type 1A.
Neurology 2007;68(11):873.
2007: chris hall; C Siskind; E R Swan; Karen M Krajewski; T Doherty; Darren R Fuerst; Peter Ainsworth; Richard Alan Lewis; Steven S Scherer; Angelika F Hahn
CMT1X phenotypes represent loss of GJB1 gene function.
Neurology 2007;68(11):849-55.
2007: Loutfi S Aboussouan; Richard Alan Lewis; chris hall
Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease.
Lung 2007;185(1):1-7.
2006: Yunhong Bai; Emilia Ianokova; Qin Pu; Khaled Ghandour; Rock Levinson; Jean-Jacques Martin; Chantal Ceuterick-de Groote; Radim Mazanec; Pavel Seeman; chris hall; Jun Li
Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes.
Archives of neurology 2006;63(12):1787-94.
2006: A Sabet; Jun Li; Khaled Ghandour; Q Pu; Xingyao Wu; John Kamholz; chris hall; Franca Cambi
Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B.
Neurology 2006;67(7):1141-6.
2006: Michael Stanton; Valerie Pannoni; Richard Alan Lewis; Eric L Logigian; Demian Naguib; chris hall; James Cleland; David N Herrmann
Dispersion of compound muscle action potential in hereditary neuropathies and chronic inflammatory demyelinating polyneuropathy.
Muscle & nerve 2006;34(4):417-22.
2006: Jun Li; Yunhong Bai; Emilia Ianakova; Marina Grandis; Fred Uchwat; Anna Trostinskaia; Karen M Krajewski; James Y Garbern; William J Kupsky; chris hall
Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration.
The Journal of comparative neurology 2006;498(2):252-65.
2006: Kristien Verhoeven; Kristl G Claeys; Stephan Zuchner; J Michael Schröder; Joachim Weis; Chantal Ceuterick; Albena Jordanova; Eva Nelis; Els De Vriendt; Matthias Van Hul; Pavel Seeman; Radim Mazanec; Gulam Mustafa Saifi; Kinga Szigeti; Pedro Mancias; Ian J Butler; Andrzej Kochanski; Barbara Ryniewicz; Jan De Bleecker; Peter Van den Bergh; Christine Verellen; Rudy Van Coster; Nathalie Goemans; Michaela Auer-Grumbach; Wim Robberecht; Vedrana Milic Rasic; Yoram Nevo; Ivajlo Tournev; Velina Guergueltcheva; Filip Roelens; Peter Vieregge; Paolo Vinci; Maria Teresa Moreno; H-J Christen; chris hall; James R Lupski; Jeffery Vance; Peter De Jonghe; Vincent Timmerman
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Brain : a journal of neurology 2006;129(Pt 8):2093-102.
2006: chris hall
Peripheral neuropathies caused by mutations in the myelin protein zero.
Journal of the neurological sciences 2006;242(1-2):55-66.
2006: chris hall; Mena Scavina; Alisa Clark; Karen M Krajewski; Jun Li; John Kamholz; Edwin Kolodny; Kinga Szigeti; Richard A Fischer; Gulam Mustafa Saifi; Steven S Scherer; James R Lupski
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
Annals of neurology 2006;59(2):358-64.
2006: Stephan Zuchner; Peter De Jonghe; Albena Jordanova; Kristl G Claeys; Velina Guergueltcheva; Sylvia Cherninkova; Steven R Hamilton; Gregory P Van Stavern; Karen M Krajewski; Jason E Stajich; Ivailo Tournev; Kristien Verhoeven; Christine T Langerhorst; Marianne De Visser; Frank Baas; Thomas D Bird; Vincent Timmerman; chris hall; Jeffery Vance
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
Annals of neurology 2006;59(2):276-81.
2006: chris hall
Therapeutic strategies for the inherited neuropathies.
Neuromolecular medicine 2006;8(1-2):255-78.
2005: chris hall; Michael R Rose
Charcot-Marie-Tooth disease impairs quality of life: why? And how do we improve it?
Neurology 2005;65(6):790-1.
2005: Jun Li; Yunhong Bai; Khaled Ghandour; Pu Qin; Marina Grandis; Anna Trostinskaia; Emilia Ianakova; Xingyao Wu; Angelo Schenone; Jean-Michel Vallat; William J Kupsky; James S Hatfield; chris hall
Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside.
Brain : a journal of neurology 2005;128(Pt 5):1168-77.
2005: Laia Pedrola; Antonio Espert; Xingyao Wu; Reyes Claramunt; chris hall; Francesc Palau
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
Human molecular genetics 2005;14(8):1087-94.
2005: chris hall; J Blake; Karen M Krajewski; Darren R Fuerst; M Laura; Angelika F Hahn; Jun Li; Richard Alan Lewis; M Reilly
Reliability and validity of the CMT neuropathy score as a measure of disability.
Neurology 2005;64(7):1209-14.
2005: Gulam Mustafa Saifi; Kinga Szigeti; Wojciech Wiszniewski; chris hall; Karen M Krajewski; Irena Hausmanowa-Petrusewicz; Andrzej Kochanski; Suzanne Reeser; Pedro Mancias; Ian J Butler; James R Lupski
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.
Human mutation 2005;25(4):372-83.
2004: chris hall
Charcot-Marie-Tooth disease: an update.
Current opinion in neurology 2004;17(5):579-85.
2004: Karen M Krajewski; chris hall
Genetic testing in neuromuscular disease.
Neurologic clinics 2004;22(3):481-508, v.
2004: John Kamholz; chris hall
Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.
Neurology 2004;63(1):194; author reply 194.
2004: Jun Li; Karen M Krajewski; Richard Alan Lewis; chris hall
Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies.
Muscle & nerve 2004;29(2):205-10.
2004: chris hall; Agnes Jáni; Karen M Krajewski; Marina Grandis; Richard Alan Lewis; Jun Li; Rosemary R Shy; Janne Balsamo; Jack Lilien; James Y Garbern; John Kamholz
Phenotypic clustering in MPZ mutations.
Brain : a journal of neurology 2004;127(Pt 2):371-84.
2003: Richard Alan Lewis; Jun Li; Darren R Fuerst; chris hall; Karen M Krajewski
Motor unit number estimate of distal and proximal muscles in Charcot-Marie-Tooth disease.
Muscle & nerve 2003;28(2):161-7.
2003: Jun Li; Jeffrey A Loeb; chris hall; Aashit K Shah; Alexandros Tselis; William J Kupski; Richard Alan Lewis
Asymmetric flaccid paralysis: a neuromuscular presentation of West Nile virus infection.
Annals of neurology 2003;53(6):703-10.
2003: chris hall; E M Frohman; Y T So; Joseph C Arezzo; David R Cornblath; MJ Giuliani; J C Kincaid; J L Ochoa; Gareth J Parry; L H Weimer
Quantitative sensory testing: report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology.
Neurology 2003;60(6):898-904.
2003: chris hall; Grace M Hobson; Manisha Jain; Odile Boespflug-Tanguy; James Y Garbern; Karen Sperle; Wen Li; Alexander Gow; Diana Rodriguez; Enrico Bertini; Pedro Mancias; Karen M Krajewski; Richard Alan Lewis; John Kamholz
Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy.
Annals of neurology 2003;53(3):354-65.
2003: Albena Jordanova; Peter De Jonghe; Cornelius F Boerkoel; Hiroshi Takashima; Els De Vriendt; Chantal Ceuterick; Jean-Jacques Martin; Ian J Butler; Pedro Mancias; Sozos Ch Papasozomenos; D Terespolsky; Lorraine Potocki; C W Brown; chris hall; D A Rita; Ivailo Tournev; Ivo Kremensky; James R Lupski; Vincent Timmerman
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Brain : a journal of neurology 2003;126(Pt 3):590-7.
2002: Henry L Paulson; James Y Garbern; Timothy F Hoban; Karen M Krajewski; Richard Alan Lewis; Kenneth H Fischbeck; Robert I Grossman; Robert E Lenkinski; John Kamholz; chris hall
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.
Annals of neurology 2002;52(4):429-34.
2002: Jun Li; Karen M Krajewski; chris hall; Richard Alan Lewis
Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name.
Neurology 2002;58(12):1769-73.
2002: Gyula Acsadi; Roumen A Anguelov; Huibin Yang; Gabor Toth; Ron L Thomas; Agnes Jani; Yuying Wang; Emilia Ianakova; Sulaiman Mohammad; Richard Alan Lewis; chris hall
Increased survival and function of SOD1 mice after glial cell-derived neurotrophic factor gene therapy.
Human gene therapy 2002;13(9):1047-59.
2002: chris hall; James Y Garbern; John Kamholz
Hereditary motor and sensory neuropathies: a biological perspective.
Lancet neurology 2002;1(2):110-8.
2002: Jérôme Salles; Françoise Sargueil; Anja Knoll-Gellida; Lee A Witters; chris hall; Huiyuan Jiang; Claude Cassagne; Bertrand Garbay
Fatty acid synthase expression during peripheral nervous system myelination.
Brain research. Molecular brain research 2002;101(1-2):52-8.
2002: James Y Garbern; Donald A Yool; Gregory Moore; Ian B Wilds; Michael W Faulk; Matthias Klugmann; Klaus-Armin Nave; Erik A Sistermans; Marjo S van der Knaap; Thomas D Bird; chris hall; John Kamholz; Ian R Griffiths
Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.
Brain : a journal of neurology 2002;125(Pt 3):551-61.
2002: Cornelius F Boerkoel; Hiroshi Takashima; Carlos A Garcia; Richard K Olney; John Johnson; Katherine Berry; Paul Russo; Shelley Kennedy; Ahmad S Teebi; Mena Scavina; Lowell L Williams; Pedro Mancias; Ian J Butler; Karen M Krajewski; chris hall; James R Lupski
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Annals of neurology 2002;51(2):190-201.
2001: Daniela M Menichella; Edgardo J Arroyo; Rajeshwar B Awatramani; Theodore Xu; Pierluigi Baron; Jean-Michel Vallat; Janne Balsamo; Jack Lilien; Guglielmo Scarlato; John Kamholz; Steven S Scherer; chris hall
Protein zero is necessary for E-cadherin-mediated adherens junction formation in Schwann cells.
Molecular and cellular neurosciences 2001;18(6):606-18.
2001: James Y Garbern; chris hall; Karen M Krajewski; John Kamholz; Grace M Hobson; Franca Cambi
Evidence for neuroaxonal injury in patients with proteolipid gene mutations.
Neurology 2001;57(10):1938-9.
2001: Weidong Xu; chris hall; John Kamholz; LA Elferink; G Xu; Jack Lilien; Janne Balsamo
Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination.
The Journal of cell biology 2001;155(3):439-46.
2001: Jerry R Mendell; Richard J Barohn; Miriam L Freimer; John T Kissel; W King; Haikady N Nagaraja; R Rice; William Campbell; Peter D Donofrio; Carlayne Jackson; Richard Alan Lewis; chris hall; D M Simpson; Gareth J Parry; Michael H Rivner; C A Thornton; Mark B Bromberg; Rup Tandan; Y Harati; MJ Giuliani
Randomized controlled trial of IVIg in untreated chronic inflammatory demyelinating polyradiculoneuropathy.
Neurology 2001;56(4):445-9.
2001: chris hall; Janne Balsamo; Jack Lilien; John Kamholz
A molecular basis for hereditary motor and sensory neuropathy disorders.
Current neurology and neuroscience reports 2001;1(1):77-88.
2001: Ekatherina Batourina; S Gim; N Bello; chris hall; M Clagett-Dame; Shankar Srinivas; Frank Costantini; Cathy L Mendelsohn
Vitamin A controls epithelial/mesenchymal interactions through Ret expression.
Nature genetics 2001;27(1):74-8.
2000: Richard Alan Lewis; A J Sumner; chris hall
Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.
Muscle & nerve 2000;23(10):1472-87.
2000: Huiyuan Jiang; Cynthia S Duchala; Rajeshwar B Awatramani; Susan Shumas; Leon R Carlock; John Kamholz; James Y Garbern; Steven S Scherer; chris hall; Wendy B Macklin
Proteolipid protein mRNA stability is regulated by axonal contact in the rodent peripheral nervous system.
Journal of neurobiology 2000;44(1):7-19.
2000: Karen M Krajewski; Richard Alan Lewis; Darren R Fuerst; C Turansky; Steven R Hinderer; James Y Garbern; John Kamholz; chris hall
Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.
Brain : a journal of neurology 2000;123 ( Pt 7)():1516-27.
2000: Weidong Xu; D Manichella; Huiyuan Jiang; Jean-Michel Vallat; Jack Lilien; Pierluigi Baron; Guglielmo Scarlato; John Kamholz; chris hall
Absence of P0 leads to the dysregulation of myelin gene expression and myelin morphogenesis.
Journal of neuroscience research 2000;60(6):714-24.
2000: K M Krajewski; chris hall
The neurologist and genetic testing in a neuromuscular clinic.
Journal of clinical neuromuscular disease 2000;1(4):172-4.
2000: John Kamholz; Daniela M Menichella; Agnes Jani; James Y Garbern; Richard Alan Lewis; Karen M Krajewski; Jack Lilien; Steven S Scherer; chris hall
Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy.
Brain : a journal of neurology 2000;123 ( Pt 2)():222-33.
1999: James Y Garbern; Franca Cambi; chris hall; John Kamholz
The molecular pathogenesis of Pelizaeus-Merzbacher disease.
Archives of neurology 1999;56(10):1210-4.
1999: Hsinlin Thomas Cheng; chris hall; Eva L Feldman
Regulation of insulin-like growth factor-binding protein-5 expression during Schwann cell differentiation.
Endocrinology 1999;140(10):4478-85.
1999: Richard Alan Lewis; chris hall
Electrodiagnostic findings in CMTX: a disorder of the Schwann cell and peripheral nerve myelin.
Annals of the New York Academy of Sciences 1999;883():504-7.
1999: Karen M Krajewski; C Turansky; Richard Alan Lewis; James Y Garbern; Steven R Hinderer; John Kamholz; chris hall
Correlation between weakness and axonal loss in patients with CMT1A.
Annals of the New York Academy of Sciences 1999;883():490-2.
1999: Davide Pareyson; Daniela M Menichella; S Botti; Angelo Sghirlanzoni; E Fallica; Marina Mora; Claudia Ciano; chris hall; Franco Taroni
Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease.
Annals of the New York Academy of Sciences 1999;883():477-80.
1999: Agnes Jani; Daniela M Menichella; Huiyuan Jiang; T Chbihi; Gyula Acsadi; John Kamholz; chris hall
Overcoming cellular immunity to prolong adenoviral-mediated gene expression in sciatic nerve.
Annals of the New York Academy of Sciences 1999;883():397-414.
1999: James Y Garbern; Franca Cambi; Richard Alan Lewis; chris hall; Anders A F Sima; G Kraft; Jean-Michel Vallat; E P Bosch; ME Hodes; Stephen R Dlouhy; Wendy H Raskind; Thomas D Bird; Wendy B Macklin; John Kamholz
Peripheral neuropathy caused by proteolipid protein gene mutations.
Annals of the New York Academy of Sciences 1999;883():351-65.
1999: Daniela M Menichella; Weidong Xu; Huiyuan Jiang; J Sohi; Jean-Michel Vallat; Pierluigi Baron; John Kamholz; chris hall
The absence of myelin P0 protein produces a novel molecular phenotype in Schwann cells.
Annals of the New York Academy of Sciences 1999;883():281-93.
1999: John Kamholz; Rajeshwar B Awatramani; Daniela M Menichella; Huiyuan Jiang; Weidong Xu; chris hall
Regulation of myelin-specific gene expression. Relevance to CMT1.
Annals of the New York Academy of Sciences 1999;883():91-108.
1999: chris hall; John Kamholz; R E Lovelace
Introduction to the Third International Symposium on Charcot-Marie-Tooth disorders.
Annals of the New York Academy of Sciences 1999;883():xiii-xviii.
1999: Agnes Jani; Daniela M Menichella; Huiyuan Jiang; T Chbihi; Gyula Acsadi; chris hall; John Kamholz
Modulation of cell-mediated immunity prolongs adenovirus-mediated transgene expression in sciatic nerve.
Human gene therapy 1999;10(5):787-800.
1998: Bertrand Garbay; F Boiron-Sargueil; chris hall; T Chbihi; Huiyuan Jiang; John Kamholz; Claude Cassagne
Regulation of oleoyl-CoA synthesis in the peripheral nervous system: demonstration of a link with myelin synthesis.
Journal of neurochemistry 1998;71(4):1719-26.
1998: P James B Dyck; P J Dyck; W R Kennedy; H Kesserwani; M Melanson; J Ochoa; chris hall; J C Stevens; GA Suarez; Peter C O'Brien
Limitations of quantitative sensory testing when patients are biased toward a bad outcome.
Neurology 1998;50(5):1213.
1997: James Y Garbern; Franca Cambi; X M Tang; Anders A F Sima; Jean-Michel Vallat; E P Bosch; Richard Alan Lewis; chris hall; J Sohi; G Kraft; KL Chen; I Joshi; D G Leonard; W Johnson; Wendy H Raskind; Stephen R Dlouhy; VM Pratt; ME Hodes; Thomas D Bird; John Kamholz
Proteolipid protein is necessary in peripheral as well as central myelin.
Neuron 1997;19(1):205-18.
1997: chris hall; Edgardo J Arroyo; J Sladky; Daniela M Menichella; Huiyuan Jiang; Weidong Xu; John Kamholz; Steven S Scherer
Heterozygous P0 knockout mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy (CIDP).
Journal of neuropathology and experimental neurology 1997;56(7):811-21.
1997: Qasim Zaidi; Branka Spehar; chris hall
Induced effects of backgrounds and foregrounds in three-dimensional configurations: the role of T-junctions.
Perception 1997;26(4):395-408.
1996: chris hall; Y Shi; Lawrence Wrabetz; John Kamholz; Steven S Scherer
Axon-Schwann cell interactions regulate the expression of c-jun in Schwann cells.
Journal of neuroscience research 1996;43(5):511-25.
1996: Shawn J Bird; M J Brown; chris hall; Steven S Scherer
Chronic inflammatory demyelinating polyneuropathy associated with malignant melanoma.
Neurology 1996;46(3):822-4.
1995: chris hall; M Tani; Y J Shi; S A Whyatt; T Chbihi; Steven S Scherer; John Kamholz
An adenoviral vector can transfer lacZ expression into Schwann cells in culture and in sciatic nerve.
Annals of neurology 1995;38(3):429-36.
1994: P Baron; chris hall; John Kamholz; G Scarlato; David Pleasure
Expression of P0 protein mRNA along rat sciatic nerve during development.
Brain research. Developmental brain research 1994;83(2):285-8.
1994: John Kamholz; chris hall; S Scherer
Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A.
Annals of neurology 1994;36(3):451-2.
1994: P Baron; chris hall; H Honda; M Sessa; John Kamholz; David Pleasure
Developmental expression of P0 mRNA and P0 protein in the sciatic nerve and the spinal nerve roots of the rat.
Journal of neurocytology 1994;23(4):249-57.
1993: Terry D Heiman-Patterson; T Krupa; P Thompson; Eduardo Nobile-Orazio; Albert J Tahmoush; chris hall
Anti-GM1/GD1b M-proteins damage human spinal cord neurons co-cultured with muscle.
Journal of the neurological sciences 1993;120(1):38-45.
1993: P Baron; John Kamholz; S Scherer; H Honda; chris hall; E Scarpini; G Scarlato; David Pleasure
Appearance of PLP mRNA in specific regions of the developing rat lumbosacral spinal cord as revealed by in situ hybridization.
Experimental neurology 1993;121(1):139-47.
1992: M Laura Feltri; Steven S Scherer; Lawrence Wrabetz; John Kamholz; chris hall
Mitogen-expanded Schwann cells retain the capacity to myelinate regenerating axons after transplantation into rat sciatic nerve.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(18):8827-31.
1992: John Kamholz; M Sessa; S Scherer; H Vogelbacker; K Mokuno; P Baron; Lawrence Wrabetz; chris hall; David Pleasure
Structure and expression of proteolipid protein in the peripheral nervous system.
Journal of neuroscience research 1992;31(2):231-44.
1991: Paul S Fishman; chris hall; D E Hart; P E Thompson; N R Cashman
Antibodies to the ganglioside GD1b in a patient with motor neuron disease and thyroid adenoma.
Archives of neurology 1991;48(11):1188-90.
1990: Terry D Heiman-Patterson; Shawn J Bird; G J Parry; J Varga; chris hall; N W Culligan; L Edelsohn; G T Tatarian; M P Heyes; C A Garcia
Peripheral neuropathy associated with eosinophilia-myalgia syndrome.
Annals of neurology 1990;28(4):522-8.
1990: chris hall; Terry D Heiman-Patterson; G J Parry; Albert J Tahmoush; V A Evans; P K Schick
Lower motor neuron disease in a patient with autoantibodies against Gal(beta 1-3)GalNAc in gangliosides GM1 and GD1b: improvement following immunotherapy.
Neurology 1990;40(5):842-4.
1990: chris hall
Immunological aspects of motor neuron disease.
Research publications - Association for Research in Nervous and Mental Disease 1990;68():241-56.
1989: chris hall; V A Evans; Fred D Lublin; RL Knobler; Terry D Heiman-Patterson; Albert J Tahmoush; G Parry; P Schick; T G DeRyk
Antibodies to GM1 and GD1b in patients with motor neuron disease without plasma cell dyscrasia.
Annals of neurology 1989;25(5):511-3.
1988: Norman Latov; Arthur P Hays; P D Donofrio; J Liao; H Ito; scott mcginnis; M Konstadoulakis; L Freddo; chris hall; K Manoussos
Monoclonal IgM with unique specificity to gangliosides GM1 and GD1b and to lacto-N-tetraose associated with human motor neuron disease.
Neurology 1988;38(5):763-8.
1987: S J Zuckerman; M A Pesce; Lewis P Rowland; W Sherman; chris hall; Norman Latov; E F Osserman
An alert for motor neuron diseases and peripheral neuropathy: monoclonal paraproteinemia may be missed by routine electrophoresis.
Archives of neurology 1987;44(3):250-1.
1986: L Freddo; Arthur P Hays; K G Nickerson; L Spatz; scott mcginnis; R Lieberson; C A Vedeler; chris hall; L Autilio-Gambetti; F C Grauss
Monoclonal anti-DNA IgM kappa in neuropathy binds to myelin and to a conformational epitope formed by phosphatidic acid and gangliosides.
Journal of immunology (Baltimore, Md. : 1950) 1986;137(12):3821-5.
1986: chris hall; Lewis P Rowland; T Smith; Werner Trojaborg; Norman Latov; W Sherman; M A Pesce; R E Lovelace; E F Osserman
Motor neuron disease and plasma cell dyscrasia.
Neurology 1986;36(11):1429-36.
1986: chris hall; C A Gabel; E C Vietorisz; N Latov
Characterization of oligosaccharides that bind to human anti-MAG antibodies and to the mouse monoclonal antibody HNK-1.
Journal of neuroimmunology 1986;12(4):291-8.
1984: chris hall; T Vietorisz; Eduardo Nobile-Orazio; N Latov
Specificity of human IgM M-proteins that bind to myelin-associated glycoprotein: peptide mapping, deglycosylation, and competitive binding studies.
Journal of immunology (Baltimore, Md. : 1950) 1984;133(5):2509-12.
1984: Eduardo Nobile-Orazio; Arthur P Hays; Norman Latov; G Perman; J Golier; chris hall; L Freddo
Specificity of mouse and human monoclonal antibodies to myelin-associated glycoprotein.
Neurology 1984;34(10):1336-42.
1980: Anthony Thomas Cacace; chris hall; S Satya-Murti
Brainstem auditory evoked potentials: a comparison of two high-frequency filter settings.
Neurology 1980;30(7 Pt 1):765-7.