Reference table (All references)



References
Year
PubMed Id
D'Amico A, Tessa A, Bruno C, Petrini S, Biancheri R, Pane M, Pedemonte M, Ricci E, Falace A, Rossi A, Mercuri E, Santorelli FM and Bertini E. Expanding the clinical spectrum of POMT1 phenotype. Neurology 2006 ;66:1564-7
2006
Dalski, A.; Atici, J.; Kreuz, F. R.; Hellenbroich, Y.; Schwinger, E.; Zuhlke, C. : Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. Europ. J. Hum. Genet. 13: 118-120, 2005.
2005
Daoud, H., Belzil, V., Martins, S., Sabbagh, M., Provencher, P., Lacomblez, L., Meininger, V., Camu, W., Dupre, N., Dion, P. A., Rouleau, G. A. Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. Arch. Neurol. 68: 739-742, 2011.
2011
Date, H.; Onodera, O.; Tanaka, H.; Iwabuchi, K.; Uekawa, K.; Igarashi, S.; Koike, R.; Hiroi, T.; Yuasa, T.; Awaya, Y.; Sakai, T.; and 9 others : Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nature Genet. 29: 184-188, 2001.
2001
David G, Durr A, Stevanin G, Cancel G, Abbas N, Benomar A, Belal S, Lebre AS, Abada-Bendib M, Grid D, Holmberg M, Yahyaoui M, Hentati F, Chkili T, Agid Y, Brice A. Related Articles, Links Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet. 1998 Feb;7(2):165-70.
1998
Davignon, L., Chauveau, C., Julien, C., Dill, C., Duband-Goulet, I., Cabet, E., Buendia, B., Lilienbaum, A., Rendu, J., Minot, M. C., Guichet, A., Allamand, V., Vadrot, N., Faure, J., Odent, S., Lazaro, L., Leroy, J. P., Marcorelles, P., Dubourg, O., Ferreiro, A. The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease. Hum. Molec. Genet. 25: 1559-1573, 2016.
2016
Davis, J. S.; Hassanzadeh, S.; Winitsky, S.; Lin, H.; Satorius, C.; Vemuri, R.; Aletras, A. H.; Wen, H.; Epstein, N. D. : The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation. Cell 107: 631-641, 2001.
2001
Dawkins, J. L.; Hulme, D. J.; Brahmbhatt, S. B.; Auer-Grumbach, M.; Nicholson, G. A. : Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nature Genet. 27: 309-312, 2001.
2001
de Greef, J. C., Lemmers, R. J. L. F., Camano, P., Day, J. W., Sacconi, S., Dunand, M., van Engelen, B. G. M., Kiuru-Enari, S., Padberg, G. W., Rosa, A. L., Desnuelle, C., Spuler, S., Tarnopolsky, M., Venance, S. L., Frants, R. R., van der Maarel, S. M., Tawil, R. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology 75: 1548-1554, 2010.
2010
De Jonghe, P.; Timmerman, V.; Ceuterick, C.; Nelis, E.; De Vriendt, E.; Lofgren, A.; Vercruyssen, A.; Verellen, C.; Van Maldergem, L.; Martin, J.-J.; Van Broeckhoven, C. : The thr124-to-met mutation in peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 122: 281-290, 1999.
1999
De Jonghe, P.; Timmerman, V.; Nelis, E.; De Vriendt, E.; Lofgren, A.; Ceuterick, C.; Martin, J.-J.; Van Broeckhoven, C. : A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. Arch. Neurol. 56: 1283-1288, 1999.
1999
De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, Markova N, Rizzo WB. Related Articles, Links Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet. 1996 Jan;12(1):52-7.
1996
De Paula AM, Franques J, Fernandez C, Monnier N, Lunardi J, Pellissier JF, Figarella-Branger D, Pouget J. A TPM3 mutation causing cap myopathy. Neuromuscul Disord. 2009 Oct;19(10):685-8. Epub 2009 Jun 23.
2009
de Vries, B.; Mamsa, H.; Stam, A. H.; Wan, J.; Bakker, S. L. M.; Vanmolkot, K. R. J.; Haan, J.; Terwindt, G. M.; Boon, E. M. J.; Howard, B. D.; Frants, R. R.; Baloh, R. W.; Ferrari, M. D.; Jen, J. C.; van den Maagdenberg, A. M. J. M. : Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. Arch Neurol. 2009 Jan;66(1):97-101.
2009
DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., Kouri, N., Wojtas, A., and 16 others. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72: 245-256, 2011.
2011
Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Megarbane A, Claustres M. Related Articles, Links Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. Am J Hum Genet. 2000 Jul;67(1):236-43. Epub 2000 Jun 02.
2000
Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Mégarbané A, Haase G, Lévy N. Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am J Hum Genet. 2007 Jul;81(1):1-16.
2007
Delague, V.; Bareil, C.; Bouvagnet, P.; Salem, N.; Chouery, E.; Loiselet, J.; Megarbane, A.; Claustres, M. : A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze family. Neurogenetics 4: 23-27, 2002.
2002
Delatycki, M. B.; Knight, M.; Koenig, M.; Cossee, M.; Williamson, R.; Forrest, S. M. : G130V, a common FRDA point mutation, appears to have arisen from a common founder. Hum. Genet. 105: 343-346, 1999.
1999
Delplanque, J., Devos, D., Huin, V., Genet, A., Sand, O., Moreau, C., Goizet, C., Charles, P., Anheim, M., Monin, M. L., Buee, L., Destee, A., and 9 others. TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. Brain 137: 2657-2663, 2014.
2014
Delpon, E., Cordeiro, J. M., Nunez, L., Thomsen, P. E. B., Guerchicoff, A., Pollevick, G. D., Wu, Y., Kanters, J. K., Larsen, C. T., Burashnikov, E., Christiansen, M., Antzelevitch, C. Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. Circ. Arrhythmia Electrophysiol. 1: 209-218, 2008.
2008
Demir, E.; Sabatelli, P.; Allamand, V.; Ferreiro, A.; Moghadaszadeh, B.; Makrelouf, M.; Topaloglu, H.; Echenne, B.; Merlini, E.; Guicheney, P. : Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am. J. Hum. Genet. 70: 1446-1458, 2002.
2002
Deng, H.-X., Chen, W., Hong, S.-T., Boycott, K. M., Gorrie, G. H., Siddique, N., Yang, Y., Fecto, F., Shi, Y., Zhai, H., Jiang, H., Hirano, M., and 11 others. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 477: 211-215, 2011.
2011
Deng, H.-X., Klein, C. J., Yan, J., Shi, Y., Wu, Y., Fecto, F., Yau, H.-J., Yang, Y., Zhai, H., Siddique, N., Hedley-Whyte, E. T., Delong, R., Martina, M, Dyck, P. J., Siddique, T. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nature Genet. 42: 165-169, 2010.
2010
Depondt, C., Donatello, S., Rai, M., Wang, F. c., Manto, M., Simonis, N., Pandolfo, M. MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43). Neurol. Genet. 2: e94, 2016. Note: Electronic Article.
2016
Depondt, C., Donatello, S., Simonis, N., Rai, M., van Heurck, R., Abramowicz, M., D'Hooghe, M., Pandolfo, M. Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. Neurology 82: 1749-1750, 2014.
2014
Di Bella, D., Lazzaro, F., Brusco, A., Plumari, M., Battaglia, G., Pastore, A., Finardi, A., Cagnoli, C., Tempia, F., Frontali, M., Veneziano, L., Sacco, T., and 14 others. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nature Genet. 42: 313-321, 2010.
2010
Di Gregorio, E., Borroni, B., Giorgio, E., Lacerenza, D., Ferrero, M., Lo Buono, N., Ragusa, N., Mancini, C., Gaussen, M., Calcia, A., Mitro, N., Hoxha, E., and 23 others. ELOVL5 mutations cause spinocerebellar ataxia 38. Am. J. Hum. Genet. 95: 209-217, 2014.
2014
Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH. A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology. 2008 Jul 22;71(4):248-52. Epub 2008 May 7.
2008
DiMauro S, Dalakas M, Miranda AF. Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. Ann Neurol. 1983 Jan;13(1):11-9.
1983
DiMauro S, DiMauro PM. Muscle carnitine palmityltransferase deficiency and myoglobinuria. Science. 1973 Nov 20;182(115):929-31.
1973
Doherty, E. J.; Macy, M. E.; Wang, S. M.; Dykeman, C. P.; Melanson, M. T.; Engle, E. C. : CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Invest. Ophthal. Vis. Sci. 40: 1687-1694, 1999.
1999
Donger C, Krejci E, Serradell AP, Eymard B, Bon S, Nicole S, Chateau D, Gary F, Fardeau M, Massoulie J, Guicheney P. Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). Am J Hum Genet. 1998 Oct;63(4):967-75.
1998
Donner K, Ollikainen M, Ridanpaa M, Christen HJ, Goebel HH, de Visser M, Pelin K, Wallgren-Pettersson C. Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. Neuromuscul Disord. 2002 Feb;12(2):151-8.
2002
Dor, T., Cinnamon, Y., Raymond, L., Shaag, A., Bouslam, N., Bouhouche, A., Gaussen, M., Meyer, V., Durr, A., Brice, A., Benomar, A., Stevanin, G., Schuelke, M., Edvardson, S. KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. J. Med. Genet. 51: 137-142, 2014.
2014
Driss A, Amouri R, Ben Hamida C, Souilem S, Gouider-Khouja N, Ben Hamida M, Hentati F. A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3. Neuromuscul Disord. 2000 Jun;10(4-5):240-6.
2000
Duarri, A., Jezierska, J., Fokkens, M., Meijer, M., Schelhaas, H. J., den Dunnen, W. F. A., van Dijk, F., Verschuuren-Bemelmans, C., Hageman, G., van de Vlies, P., Kusters, B., van de Warrenburg, B. P., Kremer, B., Wijmenga, C., Sinke, R. J., Swertz, M. A., Kampinga, H. H., Boddeke, E., Verbeek, D. S. Mutations in potassium channel KCND3 cause spinocerebellar ataxia type 19. Ann. Neurol. 72: 870-880, 2012
2012
Duboscq-Bidot L, Charron P, Ruppert V, Fauchier L, Richter A, Tavazzi L, Arbustini E, Wichter T, Maisch B, Komajda M, Isnard R, Villard E. Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy. Eur Heart J. 2009 Sep;30(17):2128-36. Epub 2009 Jun 12.
2009
Duboscq-Bidot L, Xu P, Charron P, Neyroud N, Dilanian G, Millaire A, Bors V, Komajda M, Villard E. Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res. 2008 Jan;77(1):118-25. Epub 2007 Sep 19.
2008
Dudding, T. E.; Friend, K.; Schofield, P. W.; Lee, S.; Wilkinson, I. A.; Richards, R. I. : Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus. Neurology 63: 2288-2292,
2004
Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schöffler W, van der Ven PF, Fürst DO, Song J, Djinovi?-Carugo K, Penttilä S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG. Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet. 2011 Jun 10;88(6):729-40. Epub 2011 May 27.
2011
Durand J B, Bachinski L L, Bieling L C, Czernuszewicz G Z, Abchee A B, Yu Q T, Tapscott T, Hill R, Ifegwu J, Marian A J, Brugada R, Daiger S, Gregoritch J, Anderson J, Quiñones M, Towbin J, Roberts R. Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. Circulation 1995; 92: 3387-9.
1995
Dursun U, Koroglu C, Kocasoy Orhan E, Ugur SA, Tolun A. Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. Neurogenetics. 2009 Oct;10(4):325-31. Epub 2009 May 5.
2009