Pou-Serradell A - 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: pou serradell a. 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

SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.

Verhoeven K, Coen K, De Vriendt E, Jacobs A, Van Gerwen V, Smouts I, Pou-Serradell A, Martin JJ, Timmerman V, De Jonghe P. Verhoeven K, et al. Among authors: pou serradell a. Neurology. 2004 Mar 23;62(6):1001-2. doi: 10.1212/01.wnl.0000115388.10828.5c. Neurology. 2004. PMID: 15037712

3

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.

Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Gießelmann S, Beil FT, Pou-Serradell A, Vílchez JJ, Beetz C, Deconinck T, Timmerman V, Kaether C, De Jonghe P, Hübner CA, Gal A, Amling M, Mundlos S, Baets J, Kurth I. Kornak U, et al. Among authors: pou serradell a. Brain. 2014 Mar;137(Pt 3):683-92. doi: 10.1093/brain/awt357. Epub 2014 Jan 22. Brain. 2014. PMID: 24459106

4

A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.

Meuleman J, Pou-Serradell A, Löfgren A, Ceuterick C, Martin JJ, Timmerman V, Van Broeckhoven C, De Jonghe P. Meuleman J, et al. Among authors: pou serradell a. Neuromuscul Disord. 2001 May;11(4):400-3. doi: 10.1016/s0960-8966(00)00214-5. Neuromuscul Disord. 2001. PMID: 11369192

5

Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25.

Meulemann J, Kuhlenbäumer G, Schirmacher A, Wehnert M, De Jonghe P, De Vriendt E, Young P, Airaksinen E, Pou-Serradell A, Prats JM, Ringelstein B, Stögbauer F, Van Broeckhoven C, Timmerman V. Meulemann J, et al. Eur J Hum Genet. 1999 Dec;7(8):920-7. doi: 10.1038/sj.ejhg.5200384. Eur J Hum Genet. 1999. PMID: 10602368

6

[Hereditary neuropathy with liability to pressure palsies: study of six Spanish families].

Pou Serradell A, Monells J, Téllez MJ, Fossas P, Löfgren A, Meuleman J, Timmerman V, De Jonghe P, Ceuterick C, Martin JJ. Pou Serradell A, et al. Rev Neurol (Paris). 2002 May;158(5 Pt 1):579-88. Rev Neurol (Paris). 2002. PMID: 12072826 French.

7

[Familial recurrent paralysis of the brachial plexus. Tomaculous neuropathy].

Pou Serradell A, De Paiva VJ, Alameda F, Lloreta J, Blasco R, Piqueras A. Pou Serradell A, et al. Rev Neurol (Paris). 1992;148(2):123-8. Rev Neurol (Paris). 1992. PMID: 1318570 Review. French.

8

[3 cases of rare peripheral neuropathies associated with primary Gougerot-Sjögren syndrome].

Pou Serradell A, Viñas Gaya J. Pou Serradell A, et al. Rev Neurol (Paris). 1993;149(8-9):481-4. Rev Neurol (Paris). 1993. PMID: 8009146 Review. French.

9

[Deletion of 17p11.2 chromosome in Spanish families with hereditary neuropathy and abnormal sensitivity to pressure].

Pou Serradell A, Espadaler JM, Aragonés JM, Bufill E, Alameda F, Vílchez JJ, Sevilla T, Piqueras A, Palau F, Bort S. Pou Serradell A, et al. Neurologia. 1995 Nov;10(9):367-74. Neurologia. 1995. PMID: 8554792 Spanish.

10

[Machado-Joseph disease in a family of Spanish origin].

Pou-Serradell A, Russi A, Ferrer I, Galofré E, Escudero D. Pou-Serradell A, et al. Rev Neurol (Paris). 1987;143(6-7):520-5. Rev Neurol (Paris). 1987. PMID: 3477847 French.

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