Your search returned 1188 results.

Results
	1161.	The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation. [electronic resource] by Cafforio, Gianfranco Calabrese, Rosanna Morelli, Nicola Mancuso, Michelangelo Piazza, Selina Martinuzzi, Andrea Bassi, Maria Teresa Crippa, Francesco Siciliano, Gabriele Producer: 20081020 In: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1162.	Pathophysiology of HNPP explored using axonal excitability. [electronic resource] by Jankelowitz, Stacey K Burke, David Producer: 20130805 In: Journal of neurology, neurosurgery, and psychiatry vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1163.	Acoustic nerve in peripheral neuropathy: a BAEP study. Brainstem Auditory Evoked Potentials. [electronic resource] by Pareyson, D Scaioli, V Berta, E Sghirlanzoni, A Producer: 19960924 In: Electromyography and clinical neurophysiology vol. 35 Availability: No items available. Save to lists Add to cart (remove)
	1164.	Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association. [electronic resource] by Sanahuja, Jordi Franco, Elena Rojas-García, Ricardo Gallardo, Eduard Combarros, Onofre Begué, Robert Granés, Pilar Illa, Isabel Producer: 20060120 In: Archives of neurology vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1165.	SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions. [electronic resource] by Hanisch, Frank Kornhuber, Malte Alston, Charlotte L Taylor, Robert W Deschauer, Marcus Zierz, Stephan Producer: 20150720 In: Journal of neurology, neurosurgery, and psychiatry vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1166.	Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. [electronic resource] by Suter, U Snipes, G J Schoener-Scott, R Welcher, A A Pareek, S Lupski, J R Murphy, R A Shooter, E M Patel, P I Producer: 19941117 In: The Journal of biological chemistry vol. 269 Availability: No items available. Save to lists Add to cart (remove)
	1167.	HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients. [electronic resource] by Capponi, Simona Geroldi, Alessandro Fossa, Paola Grandis, Marina Ciotti, Paola Gulli, Rossella Schenone, Angelo Mandich, Paola Bellone, Emilia Producer: 20120405 In: Journal of the peripheral nervous system : JPNS vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1168.	A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients. [electronic resource] by Silander, K Meretoja, P Nelis, E Timmerman, V Van Broeckhoven, C Aula, P Savontaus, M L Producer: 19970328 In: Human mutation vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1169.	Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. [electronic resource] by Dupré, Nicolas Howard, Heidi C Mathieu, Jean Karpati, George Vanasse, Michel Bouchard, Jean-Pierre Carpenter, Stirling Rouleau, Guy A Producer: 20030820 In: Annals of neurology vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1170.	Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy. [electronic resource] by Sone, J Hishikawa, N Koike, H Hattori, N Hirayama, M Nagamatsu, M Yamamoto, M Tanaka, F Yoshida, M Hashizume, Y Imamura, H Yamada, E Sobue, G Producer: 20060227 In: Neurology vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1171.	Clinical and electrodiagnostic findings, nerve biopsy and blood group markers in a family with hereditary neuropathy with liability to pressure palsies. [electronic resource] by Leblhuber, F Reisecker, F Willeit, J Windhager, E Witzmann, A Mayr, W R Producer: 19910620 In: Acta neurologica Scandinavica vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1172.	Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. [electronic resource] by Szigeti, Kinga Wiszniewski, Wojciech Saifi, Gulam Mustafa Sherman, Diane L Sule, Norbert Adesina, Adekunle M Mancias, Pedro Papasozomenos, Sozos Ch Miller, Geoffrey Keppen, Laura Daentl, Donna Brophy, Peter J Lupski, James R Producer: 20080403 In: Neurogenetics vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1173.	The distal hereditary motor neuropathies. [electronic resource] by Rossor, Alexander M Kalmar, Bernadett Greensmith, Linda Reilly, Mary M Producer: 20120202 In: Journal of neurology, neurosurgery, and psychiatry vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1174.	Axonal neuropathy-associated TRPV4 regulates neurotrophic factor-derived axonal growth. [electronic resource] by Jang, Yongwoo Jung, Jooyoung Kim, Hyungsup Oh, Jungeun Jeon, Ji Hyun Jung, Saewoon Kim, Kyung-Tai Cho, Hawon Yang, Dong-Jin Kim, Sung Min Kim, In-Beom Song, Mi-Ryoung Oh, Uhtaek Producer: 20120409 In: The Journal of biological chemistry vol. 287 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1175.	Small amounts of functional ATP7A protein permit mild phenotype. [electronic resource] by Møller, Lisbeth Birk Producer: 20160222 In: Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1176.	Desert hedgehog is a mediator of demyelination in compression neuropathies. [electronic resource] by Jung, James Frump, Derek Su, Jared Wang, Weiping Mozaffar, Tahseen Gupta, Ranjan Producer: 20151217 In: Experimental neurology vol. 271 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1177.	A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy). [electronic resource] by Grosz, Bianca R Golovchenko, Natasha B Ellis, Melina Kumar, Kishore Nicholson, Garth A Antonellis, Anthony Kennerson, Marina L Producer: 20201109 In: Scientific reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1178.	Genetic and physical delineation of the region overlapping the progressive motor neuropathy (pmn) locus on mouse chromosome 13. [electronic resource] by Martin, N Jaubert, J Glaser, P Szatanik, M Guénet, J L Producer: 20011004 In: Genomics vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1179.	Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. [electronic resource] by Rohkamm, Barbara Reilly, Mary M Lochmüller, Hanns Schlotter-Weigel, Beate Barisic, Nina Schöls, Ludger Nicholson, Garth Pareyson, Davide Laurà, Matilde Janecke, Andreas R Miltenberger-Miltenyi, Gabriel John, Elisabeth Fischer, Carina Grill, Franz Wakeling, William Davis, Mary Pieber, Thomas R Auer-Grumbach, Michaela Producer: 20080214 In: Journal of the neurological sciences vol. 263 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1180.	Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies. [electronic resource] by Sutton, Ian J Mocroft, A Paul Lindley, Victoria H Barber, Richard M Bryon, R Jane Winer, John B MacDonald, Fiona Producer: 20050303 In: Neuromuscular disorders : NMD vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 1188 results.