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Items: 1 to 20 of 32

1.

Error occurred: cannot get document summary

PMID:
24250758

2.

Towards a functional pathology of hereditary neuropathies.

Weis J, Claeys KG, Roos A, Azzedine H, Katona I, Schröder JM, Senderek J.

Acta Neuropathol. 2017 Apr;133(4):493-515. doi: 10.1007/s00401-016-1645-y. Epub 2016 Nov 28. Review.

PMID:
27896434
3.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, El Khashab HY, Hamad M, Azzedine H, Clark K, Corrochano S, Wells S, Elting MW, Weiss MM, Burn S, Myers A, Landsverk M, Crotwell PL, Waisfisz Q, Wolf NI, Nolan PM, Padilla-Lopez S, Houlden H, Lifton R, Mane S, Singh BB, Falk MJ, Mercimek-Mahmutoglu S, Bilguvar K, Salih MA, Acevedo-Arozena A, Kruer MC.

Am J Hum Genet. 2016 Jun 2;98(6):1249-1255. doi: 10.1016/j.ajhg.2016.04.008. Epub 2016 May 26.

4.

Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?

Werheid F, Azzedine H, Zwerenz E, Bozkurt A, Moeller MJ, Lin L, Mull M, Häusler M, Schulz JB, Weis J, Claeys KG.

Brain Behav. 2016 Mar 4;6(4):e00451. doi: 10.1002/brb3.451. eCollection 2016 Apr.

5.

Charcot-Marie-Tooth Neuropathy Type 4C.

Azzedine H, LeGuern E, Salih MA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2008 Mar 31 [updated 2015 Oct 15].

6.

Reply: Is SIGMAR1 a confirmed FTD/MND gene?

Bernard-Marissal N, Médard JJ, Azzedine H, Chrast R.

Brain. 2015 Nov;138(Pt 11):e394. doi: 10.1093/brain/awv174. Epub 2015 Jun 18. No abstract available.

PMID:
26088963
7.

Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration.

Bernard-Marissal N, Médard JJ, Azzedine H, Chrast R.

Brain. 2015 Apr;138(Pt 4):875-90. doi: 10.1093/brain/awv008. Epub 2015 Feb 11.

PMID:
25678561
8.

Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation.

Khan AO, AlDrees A, Elmalik SA, Hassan HH, Michel M, Stevanin G, Azzedine H, Salih MA.

Br J Ophthalmol. 2014 Jul;98(7):889-93.

PMID:
24522175
9.

C19orf12 mutation leads to a pallido-pyramidal syndrome.

Kruer MC, Salih MA, Mooney C, Alzahrani J, Elmalik SA, Kabiraj MM, Khan AO, Paudel R, Houlden H, Azzedine H, Alkuraya F.

Gene. 2014 Mar 10;537(2):352-6. doi: 10.1016/j.gene.2013.11.039. Epub 2013 Dec 17.

10.

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.

Salih MA, Mundwiller E, Khan AO, AlDrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HM, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G, Azzedine H.

PLoS One. 2013 Oct 9;8(10):e76831. doi: 10.1371/journal.pone.0076831. eCollection 2013. Erratum in: PLoS One. 2013;8(11). doi:10.1371/annotation/cb01a74a-3330-4412-8040-2a94842420ed.

11.

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.

Azzedine H, Zavadakova P, Planté-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Médard JJ, Makowski E, Schöls L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, Stevanin G, Said G, Amato A, Baraban J, LeGuern E, Senderek J, Rivolta C, Chrast R.

Hum Mol Genet. 2013 Oct 15;22(20):4224-32. doi: 10.1093/hmg/ddt274. Epub 2013 Jun 17.

12.

Molecular genetics of charcot-marie-tooth disease: from genes to genomes.

Azzedine H, Senderek J, Rivolta C, Chrast R.

Mol Syndromol. 2012 Nov;3(5):204-14. doi: 10.1159/000343487. Epub 2012 Oct 12.

13.

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.

Klebe S, Lossos A, Azzedine H, Mundwiller E, Sheffer R, Gaussen M, Marelli C, Nawara M, Carpentier W, Meyer V, Rastetter A, Martin E, Bouteiller D, Orlando L, Gyapay G, El-Hachimi KH, Zimmerman B, Gamliel M, Misk A, Lerer I, Brice A, Durr A, Stevanin G.

Eur J Hum Genet. 2012 Jun;20(6):645-9. doi: 10.1038/ejhg.2011.261. Epub 2012 Jan 18.

14.

Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations.

Assami S, Azzedine H, Nouioua S, Mundwiller E, Mahoui S, Makri S, Djemai M, Grid D, Brice A, Hamadouche T, Stevanin G, Tazir M.

Mov Disord. 2011 Aug 1;26(9):1777-9. doi: 10.1002/mds.23648. Epub 2011 Mar 25. No abstract available.

PMID:
21442655
15.

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.

Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, Battini R, Sickl E, de Leva MF, Boespflug-Tanguy O, Silvestri G, Simonati A, Said E, Ferbert A, Criscuolo C, Heinimann K, Modoni A, Weber P, Palmeri S, Plasilova M, Pauri F, Cassandrini D, Battisti C, Pini A, Tosetti M, Hauser E, Masciullo M, Di Fabio R, Piccolo F, Denis E, Cioni G, Massa R, Della Giustina E, Calabrese O, Melone MA, De Michele G, Federico A, Bertini E, Durr A, Brockmann K, van der Knaap MS, Zatz M, Filla A, Brice A, Stevanin G, Santorelli FM.

Hum Mutat. 2009 Mar;30(3):E500-19. doi: 10.1002/humu.20945.

PMID:
19105190
16.

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Le Ber I, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen AK, Feki I, Pasquier F, Belarbi S, Cruz VT, Depienne C, Truchetto J, Garrigues G, Tallaksen C, Tranchant C, Nishizawa M, Vale J, Coutinho P, Santorelli FM, Mhiri C, Brice A, Durr A; SPATAX consortium.

Brain. 2008 Mar;131(Pt 3):772-84. Epub 2007 Dec 13.

PMID:
18079167
17.

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.

Klebe S, Durr A, Bouslam N, Grid D, Paternotte C, Depienne C, Hanein S, Bouhouche A, Elleuch N, Azzedine H, Poea-Guyon S, Forlani S, Denis E, Charon C, Hazan J, Brice A, Stevanin G.

Am J Med Genet B Neuropsychiatr Genet. 2007 Oct 5;144B(7):854-61.

PMID:
17503452
18.

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E.

Brain. 2007 Apr;130(Pt 4):1062-75. Epub 2007 Mar 8.

PMID:
17347251
19.

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A.

Nat Genet. 2007 Mar;39(3):366-72. Epub 2007 Feb 18.

PMID:
17322883
20.

A novel locus for autosomal recessive spastic ataxia on chromosome 17p.

Bouslam N, Bouhouche A, Benomar A, Hanein S, Klebe S, Azzedine H, Di Giandomenico S, Boland-Augé A, Santorelli FM, Durr A, Brice A, Yahyaoui M, Stevanin G.

Hum Genet. 2007 May;121(3-4):413-20. Epub 2007 Feb 2.

PMID:
17273843

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