Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Hereditary myopathy with early respiratory failure: occurrence in various populations.

Palmio, Johanna; Evilä, Anni; Chapon, Françoise; Tasca, Giorgio; Xiang, Fengqing; Brådvik, Björn; Eymard, Bruno; Echaniz-Laguna, Andoni; Laporte, Jocelyn; Kärppä, Mikko; Mahjneh, Ibrahim; Quinlivan, Rosaline; Laforêt, Pascal; Damian, Maxwell; Berardo, Andres; Taratuto, Ana Lia; Bueri, Jose Antonio; Tommiska, Johanna; Raivio, Taneli; Tuerk, Matthias; Gölitz, Philipp; Chevessier, Frederic; Sewry, Caroline; Norwood, Fiona; Hedberg, Carola; Schröder, Rolf; Edström, Lars; Oldfors, Anders; Hackman, Peter; Udd, Bjarne.

J Neurol Neurosurg Psychiatry ; 85(3): 345-53, 2014 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-23606733

2.

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.

Anttonen, Anna-Kaisa; Mahjneh, Ibrahim; Hämäläinen, Riikka H; Lagier-Tourenne, Clotilde; Kopra, Outi; Waris, Laura; Anttonen, Mikko; Joensuu, Tarja; Kalimo, Hannu; Paetau, Anders; Tranebjaerg, Lisbeth; Chaigne, Denys; Koenig, Michel; Eeg-Olofsson, Orvar; Udd, Bjarne; Somer, Mirja; Somer, Hannu; Lehesjoki, Anna-Elina.

Nat Genet ; 37(12): 1309-11, 2005 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-16282978

3.

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

Bolduc, Véronique; Marlow, Gareth; Boycott, Kym M; Saleki, Khalil; Inoue, Hiroshi; Kroon, Johan; Itakura, Mitsuo; Robitaille, Yves; Parent, Lucie; Baas, Frank; Mizuta, Kuniko; Kamata, Nobuyuki; Richard, Isabelle; Linssen, Wim H J P; Mahjneh, Ibrahim; de Visser, Marianne; Bashir, Rumaisa; Brais, Bernard.

Am J Hum Genet ; 86(2): 213-21, 2010 Feb 12.

Artigo em Inglês | MEDLINE | ID: mdl-20096397

4.

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene.

Hackman, Peter; Rusanen, Salla M; Johari, Mridul; Vihola, Anna; Jonson, Per Harald; Sarparanta, Jaakko; Donner, Kati; Lahermo, Päivi; Koivunen, Sampo; Luque, Helena; Soininen, Merja; Mahjneh, Ibrahim; Auranen, Mari; Arumilli, Meharji; Savarese, Marco; Udd, Bjarne.

Neurol Genet ; 7(6): e632, 2021 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-34722876

5.

[Bent spine straightens up--a case of camptocormia]. / Koukkuselkä suortuu.

Mahjneh, Ibrahim; Edström, Birgitta; Sandström, Gunilla.

Duodecim ; 125(17): 1889-93, 2009.

Artigo em Fi | MEDLINE | ID: mdl-19860092

6.

Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells.

Chandra, Goutam; Defour, Aurelia; Mamchoui, Kamel; Pandey, Kalpana; Mishra, Soumya; Mouly, Vincent; Sreetama, SenChandra; Mahad Ahmad, Mohammad; Mahjneh, Ibrahim; Morizono, Hiroki; Pattabiraman, Nagarajan; Menon, Anant K; Jaiswal, Jyoti K.

Cell Death Discov ; 5: 118, 2019.

Artigo em Inglês | MEDLINE | ID: mdl-31341644

7.

Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study.

Mahjneh, Ibrahim; Anttonen, Anna-Kaisa; Somer, Mirja; Paetau, Anders; Lehesjoki, Anna-Elina; Somer, Hannu; Udd, Bjarne.

J Neurol ; 253(3): 301-6, 2006 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-16151599

8.

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.

Ylikallio, Emil; Auranen, Mari; Mahjneh, Ibrahim; Lamminen, Antti; Kousi, Maria; Träskelin, Ann-Liz; Muurinen, Tiina; Löfberg, Mervi; Salmi, Tapani; Paetau, Anders; Lehesjoki, Anna-Elina; Piirilä, Päivi; Kiuru-Enari, Sari.

J Neuromuscul Dis ; 3(4): 475-485, 2016 11 29.

Artigo em Inglês | MEDLINE | ID: mdl-27911336

9.

Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3).

Haravuori, Henna; Siitonen, H Annika; Mahjneh, Ibrahim; Hackman, Peter; Lahti, Laura; Somer, Hannu; Peltonen, Leena; Kestilä, Marjo; Udd, Bjarne.

Neuromuscul Disord ; 14(3): 183-7, 2004 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-15036327

10.

Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G.

Kärppä, Mikko; Mahjneh, Ibrahim; Karttunen, Ari; Tolonen, Uolevi; Majamaa, Kari.

J Neurol ; 251(5): 556-63, 2004 May.

Artigo em Inglês | MEDLINE | ID: mdl-15164188

11.

Axial myopathy--an unrecognised entity.

Mahjneh, Ibrahim; Marconi, G; Paetau, A; Saarinen, A; Salmi, T; Somer, H.

J Neurol ; 249(6): 730-4, 2002 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-12111307

12.

DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy.

Mahjneh, Ibrahim; Lochmüller, Hanns; Muntoni, Francesco; Abicht, Angela.

Neuromuscul Disord ; 23(1): 36-42, 2013 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-22884442

13.

Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study.

Mahjneh, Ibrahim; Bashir, Rumaisa; Kiuru-Enari, Sari; Linssen, Wim; Lamminen, Antti; Visser, Marianne de.

Neuromuscul Disord ; 22 Suppl 2: S130-6, 2012 Oct 01.

Artigo em Inglês | MEDLINE | ID: mdl-22980764

14.

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

Sarparanta, Jaakko; Jonson, Per Harald; Golzio, Christelle; Sandell, Satu; Luque, Helena; Screen, Mark; McDonald, Kristin; Stajich, Jeffrey M; Mahjneh, Ibrahim; Vihola, Anna; Raheem, Olayinka; Penttilä, Sini; Lehtinen, Sara; Huovinen, Sanna; Palmio, Johanna; Tasca, Giorgio; Ricci, Enzo; Hackman, Peter; Hauser, Michael; Katsanis, Nicholas; Udd, Bjarne.

Nat Genet ; 44(4): 450-5, S1-2, 2012 Feb 26.

Artigo em Inglês | MEDLINE | ID: mdl-22366786

15.

[Not Available]. / Hartia-lantiodystrofioiden molekyyligenetiikka Suomessa.

Raheem, Olayinka; Suominen, Tiina; Hackman, Peter; Vihola, Anna; Auranen, Mari; Kalimo, Hannu; Mahjneh, Ibrahim; Kärppä, Mikko; Haapasalo, Hannu; Udd, Bjarne.

Duodecim ; 122(17): 2130-6, 2006.

Artigo em Fi | MEDLINE | ID: mdl-17115630

16.

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.

Hackman, Peter; Sandell, Satu; Sarparanta, Jaakko; Luque, Helena; Huovinen, Sanna; Palmio, Johanna; Paetau, Anders; Kalimo, Hannu; Mahjneh, Ibrahim; Udd, Bjarne.

Neuromuscul Disord ; 21(5): 338-44, 2011 May.

Artigo em Inglês | MEDLINE | ID: mdl-21376592

17.

A new distal myopathy with mutation in anoctamin 5.

Mahjneh, Ibrahim; Jaiswal, Jyoti; Lamminen, Antti; Somer, Mirja; Marlow, Gareth; Kiuru-Enari, Sari; Bashir, Rumaisa.

Neuromuscul Disord ; 20(12): 791-5, 2010 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-20692837

18.

Letter on Schneider article.

Mahjneh, Ibrahim.

Neuromuscul Disord ; 12(3): 322-3, 2002 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-11801407

19.

[Axial myopathy--an unrecognized back disease]. / Aksiaalinen myopatia--huonosti tunnistettu selkäsairaus.

Mahjneh, Ibrahim; Somer, Hannu.

Duodecim ; 118(17): 1781-5, 2002.

Artigo em Fi | MEDLINE | ID: mdl-12370985

20.

[Familial carpal tunnel syndrome--a more common syndrome than anticipated]. / Familiaalinen rannekanavaoireyhtymä--luultua yleisempi tauti.

Mahjneh, Ibrahim; Siivola, Jouko.

Duodecim ; 119(17): 1665-7, 2003.

Artigo em Fi | MEDLINE | ID: mdl-14587446

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