Madrid RE - Search Results

1

Genetic spectrum of hereditary neuropathies with onset in the first year of life.

Baets J, Deconinck T, De Vriendt E, Zimoń M, Yperzeele L, Van Hoorenbeeck K, Peeters K, Spiegel R, Parman Y, Ceulemans B, Van Bogaert P, Pou-Serradell A, Bernert G, Dinopoulos A, Auer-Grumbach M, Sallinen SL, Fabrizi GM, Pauly F, Van den Bergh P, Bilir B, Battaloglu E, Madrid RE, Kabzińska D, Kochanski A, Topaloglu H, Miller G, Jordanova A, Timmerman V, De Jonghe P. Baets J, et al. Among authors: madrid re. Brain. 2011 Sep;134(Pt 9):2664-76. doi: 10.1093/brain/awr184. Epub 2011 Aug 11. Brain. 2011. PMID: 21840889 Free PMC article.

2

Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse.

Madrid RE, Lofgren A, Baets J, Timmerman V. Madrid RE, et al. Neuromuscul Disord. 2013 Apr;23(4):345-8. doi: 10.1016/j.nmd.2012.12.005. Epub 2013 Jan 10. Neuromuscul Disord. 2013. PMID: 23313019

3

Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

Lee JA, Madrid RE, Sperle K, Ritterson CM, Hobson GM, Garbern J, Lupski JR, Inoue K. Lee JA, et al. Among authors: madrid re. Ann Neurol. 2006 Feb;59(2):398-403. doi: 10.1002/ana.20732. Ann Neurol. 2006. PMID: 16374829

4

Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation.

Madrid RE, Kubisch C, Hays AP. Madrid RE, et al. Neurology. 2005 Oct 25;65(8):1301-3. doi: 10.1212/01.wnl.0000180963.85963.73. Neurology. 2005. PMID: 16247063

5

Early-onset cerebellar ataxia in a patient with CMT2A2.

Madrid R, Guariglia SR, Haworth A, Korosh W, Gavin M, Lyon GJ. Madrid R, et al. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005108. doi: 10.1101/mcs.a005108. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32532879 Free PMC article.

6

Recurrent brachial plexus neuropathy.

Bradley WG, Madrid R, Thrush DC, Campbell MJ. Bradley WG, et al. Brain. 1975 Sep;98(3):381-98. doi: 10.1093/brain/98.3.381. Brain. 1975. PMID: 171026

7

Spino-cerebellar degeneration with polyneuropathy associated with ceroid lipofuscinosis in one family.

Wisniewski KE, Madrid RE, Dambska M, Rapin I, Pullarkat R, Sklower S. Wisniewski KE, et al. Among authors: madrid re. J Child Neurol. 1988 Jan;3(1):33-41. doi: 10.1177/088307388800300108. J Child Neurol. 1988. PMID: 3422677

8

Dysmorphic features, cognitive disability, chronic inflammation, and predisposition to vascular disease in two sisters: a new autosomal recessive disorder?

Velinov M, Dolzhanskaya N, Ramaswamy P, Barinstein L, Stuart RM, Kahn P, Feldstein N, Madrid RE. Velinov M, et al. Among authors: madrid re. Clin Dysmorphol. 2012 Jan;21(1):8-10. doi: 10.1097/MCD.0b013e32834c59a8. Clin Dysmorphol. 2012. PMID: 21968521

9

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.

Lyon GJ, Marchi E, Ekstein J, Meiner V, Hirsch Y, Scher S, Yang E, De Vivo DC, Madrid R, Li Q, Wang K, Haworth A, Chilton I, Chung WK, Velinov M. Lyon GJ, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a003715. doi: 10.1101/mcs.a003715. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31387860 Free PMC article.

10

The peroneal muscular atrophy syndrome. Clinical genetic, electrophysiological and nerve biopsy studies. Part 3. Clinical, electrophysiological and pathological correlations.

Bradley WG, Madrid R, Davis CJ. Bradley WG, et al. J Neurol Sci. 1977 May;32(1):123-36. doi: 10.1016/0022-510x(77)90043-0. J Neurol Sci. 1977. PMID: 864488

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