A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus‐dystonia syndrome

By Szubiga Michał  

Neurological Research, Vol. 35, Iss. 6, 2013-07 ,pp. : 659-662

Maney Publishing

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A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation

By Krause S.   Schlotter-Weigel B.   Walter M.C.   Najmabadi H.   Wiendl H.   Muller-Hocker J.   Muller-Felber W.   Pongratz D.   Lochmuller H.  

Neuromuscular Disorders, Vol. 13, Iss. 10, 2003-12 ,pp. : 830-834

Elsevier

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An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy

By Frigerio Roberta   Fabrizi Gian Maria   Ferrarini Moreno   Cavallaro Tiziana   Brighina Laura   Santoro Patrizia   Agostoni Elio   Cavaletti Guido   Rizzuto Nicolò   Ferrarese Carlo  

Amyloid: The Journal of Protein Folding Disorders, Vol. 11, Iss. 2, 2004-06 ,pp. : 121-124

Informa Healthcare

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A case of carotid body paraganglioma and haemangioblastoma of the spinal cord in a patient with the N131K missense mutation in the VHL gene

By Majchrzak Krzysztof   Cybulski Cezary   Bobek-Billewicz Barbara   Majchrzak Henryk   Lubiński Jan  

Neurological Sciences, Vol. 32, Iss. 3, 2011-06 ,pp. : 491-496

Springer Publishing Company

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A novel missense mutation in the L1CAM gene in a boy with L1 disease

By Simonati A.   Boaretto F.   Vettori A.   Dabrilli P.   Criscuolo L.   Rizzuto N.   Mostacciuolo M.  

Neurological Sciences, Vol. 27, Iss. 2, 2006-06 ,pp. : 114-117

Springer Publishing Company

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