Search Results - "HAHN, A. F"

Reliability and validity of the CMT neuropathy score as a measure of disability by SHY, M. E, BLAKE, J, KRAJEWSKI, K, FUERST, D. R, LAURA, M, HAHN, A. F, LI, J, LEWIS, R. A, REILLY, M

“…To determine the validity and reliability of the Charcot-Marie-Tooth disease (CMT) neuropathy score (CMTNS) in patients with inherited neuropathy. Natural…”
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Practice parameter: Immunotherapy for Guillain-Barré syndrome. Report of the Quality Standards Subcommittee of the American Academy of Neurology by HUGHES, R. A. C, WIJDICKS, E. F. M, BAROHN, R, BENSON, E, CORNBLATH, D. R, HAHN, A. F, MEYTHALER, J. M, MILLER, R. G, SLADKY, J. T, STEVENS, J. C

“…To provide an evidence-based statement to guide physicians in the management of Guillain-Barré syndrome (GBS). Literature search and derivation of…”
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CMT1X phenotypes represent loss of GJB1 gene function by SHY, M. E, SISKIND, C, SWAN, E. R, KRAJEWSKI, K. M, DOHERTY, T, FUERST, D. R, AINSWORTH, P. J, LEWIS, R. A, SCHERER, S. S, HAHN, A. F

“…To investigate possible genotype-phenotype correlations and to evaluate the natural history of patients with Charcot-Marie-Tooth disease type 1X (CMT1X). CMT1X…”
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Multifocal motor neuropathy improved by IVIg : Randomized, double-blind, placebo-controlled study by FEDERICO, P, ZOCHODNE, D. W, HAHN, A. F, BROWN, W. F, FEASBY, T. E

“…To determine the effect of IV immunoglobulin (IVIg) on neurologic function and electrophysiologic studies in multifocal motor neuropathy with conduction block…”
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Derivation and validation of diagnostic criteria for chronic inflammatory demyelinating polyneuropathy by Koski, C.L, Baumgarten, M, Magder, L.S, Barohn, R.J, Goldstein, J, Graves, M, Gorson, K, Hahn, A.F, Hughes, R.A.C, Katz, J, Lewis, R.A, Parry, G.J, van Doorn, P, Cornblath, D.R

“…Abstract To develop diagnostic criteria for chronic inflammatory demyelinating polyneuropathy (CIDP), a retrospective series of patients' records diagnosed by…”
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Guillain-Barré syndrome by Hahn, Angelika F

“…Guillain-Barré syndrome (GBS) is viewed as a reactive, self-limited, autoimmune disease triggered by a preceding bacterial or viral infection. Campylobacter…”
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Plasma-exchange therapy in chronic inflammatory demyelinating polyneuropathy : A double-blind, sham-controlled, cross-over study by HAHN, A. F, BOLTON, C. F, PILLAY, N, CHALK, C, BENSTEAD, T, BRIL, V, SHUMAK, K, VANDERVOORT, M. K, FEASBY, T. E

“…Eighteen patients with definite, untreated chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) of chronic progressive (nine patients) or relapsing…”
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Intravenous immunoglobulin treatment in chronic inflammatory demyelinating polyneuropathy. A double-blind, placebo-controlled, cross-over study by Hahn, A F, Bolton, C F, Zochodne, D, Feasby, T E

“…Thirty patients with definite or probable chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) of chronic progressive (16 patients) or relapsing…”
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A novel sodium channel mutation in a family with hypokalemic periodic paralysis by BULMAN, D. E, SCOGGAN, K. A, VAN OENE, M. D, NICOLLE, M. W, HAHN, A. F, TOLLAR, L. L, EBERS, G. C

“…To identify the cause of hypokalemic periodic paralysis (HOKPP) in a family whose disease is not caused by a mutation in the dihydropyridine-sensitive (DHP)…”
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Cold-induced sweating syndrome: CISS1 and CISS2 Manifestations from infancy to adulthood. Four new cases by HAHN, A. F, WAALER, P. E, KVISTAD, P. H, BAMFORTH, J. S, MILES, J. H, MCLEOD, J. G, KNAPPSKOG, P. M, BOMAN, H

“…Cold-induced sweating syndrome (CISS), a rare autosomal recessive disorder, is genetically heterogeneous. Deficiency of the CRLF1 and the CLCF1 gene functions…”
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Cold-induced sweating syndrome A report of two cases and demonstration of genetic heterogeneity by Hahn, A.F., Jones, D.L., Knappskog, P.M., Boman, H., McLeod, J.G.

“…To characterize the specific autonomic disturbances underlying the cold-induced sweating syndrome (CISS), and to describe a novel genetic variant of this rare…”
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Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale by VENANCE, S. L, KOOPMAN, W. J, MISKIE, B. A, HEGELE, R. A, HAHN, A. F

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Interferon beta-1a as an investigational treatment for CIDP by Vallat, J-M, Hahn, A F, Léger, J-M, Cros, D P, Magy, L, Tabaraud, F, Bouche, P, Preux, P-M

“…A prospective, multicenter, open-label study was conducted to determine the safety and efficacy of intramuscular (IM) interferon beta-1a (IFNbeta-1a) (Avonex)…”
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Respiratory electrophysiological studies in Guillain-Barré syndrome by Zifko, U, Chen, R, Remtulla, H, Hahn, A F, Koopman, W, Bolton, C F

“…Respiratory failure is a common and potentially life threatening complication in patients with Guillain-Barré syndrome. The incidence of phrenic nerve…”
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Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2 by SCOGGAN, K A, CHANDRA, T, NELSON, R, HAHN, A F, BULMAN, D E

“…19 The fourth transmembrane domain functions as the voltage sensor while the four loops between transmembrane domains S5-S6 compose the pore forming unit…”
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Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Maps to Chromosome 22q13.32-qter by Hirano, Michio, Garcia-de-Yebenes, Justo, Jones, Alison C., Nishino, Ichizo, DiMauro, Salvatore, Carlo, José R., Bender, Adam N., Hahn, Angelica F., Salberg, Larry M., Weeks, Daniel E., Nygaard, Torbjoern G.

“…Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is a rare, multisystem disorder characterized clinically by ptosis, progressive external…”
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Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene by AINSWORTH, P. J, BOLTON, C. F, MURPHY, B. C, STUART, J. A, HAHN, A. F

“…X-linked Charcot-Marie-Tooth disease (CMTX) is a peripheral nerve disorder that has been linked to mutations in the connexin 32 gene (Cx32). These mutations…”
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X-linked dominant hereditary motor and sensory neuropathy by Hahn, A F, Brown, W F, Koopman, W J, Feasby, T E

“…Modern techniques have defined the hereditary motor and sensory neuropathies (HMSN) as a genetically heterogeneous group of disorders. This includes a rare…”
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Severe axonal degeneration in acute Guillain-Barré syndrome: evidence of two different mechanisms? by Feasby, T E, Hahn, A F, Brown, W F, Bolton, C F, Gilbert, J J, Koopman, W J

“…Four cases of severe acute Guillain-Barré syndrome (GBS) characterized by severe axonal degeneration are presented. All had electrically inexcitable motor…”
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Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene by Ebers, G C, George, A L, Barchi, R L, Ting-Passador, S S, Kallen, R G, Lathrop, G M, Beckmann, J S, Hahn, A F, Brown, W F, Campbell, R D

“…The hyperkalemic periodic paralyses are a clinically heterogeneous group of autosomal dominant syndromes characterized by episodic paralysis associated with an…”
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