Search Results - "MAHJNEH, I"

'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D by Sandell, S. M., Mahjneh, I., Palmio, J., Tasca, G., Ricci, E., Udd, B. A.

“…Background and purpose We have previously reported clinical, genetic and molecular pathomechanistic findings in DNAJB6 mutated LGMD1D. After publishing…”
Get full text

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

“…Objective Several families with characteristic features of hereditary myopathy with early respiratory failure (HMERF) have remained without genetic cause. This…”
Get full text

Dysferlin is a Plasma Membrane Protein and is Expressed Early in Human Development by Anderson, Louise V. B., Davison, Keith, Moss, Jennifer A., Young, Carol, Cullen, Michael J., Walsh, John, Johnson, Margaret A., Bashir, Rumaisa, Britton, Stephen, Keers, Sharon, Argov, Zohar, Mahjneh, Ibrahim, Fougerousse, Françoise, Beckmann, Jacques S., Bushby, Kate M. D.

“…Recently, a single gene, DYSF, has been identified which is mutated in patients with limb-girdle muscular dystrophy type 2B (LGMD2B) and with Miyoshi myopathy…”
Get full text

G.P.26 DOK7 limb girdle myasthenic syndrome mimicking congenital muscular dystrophy by Mahjneh, I, Lochmüller, H, Muntoni, F, Abicht, A

“…Abstract Congenital myasthenic syndromes show a wide clinical heterogeneity, however the unusual pattern of muscle weakness and the presence of variable…”
Get full text

P3 Development of anoctaminopathy immunodiagnostics using the novel ANO5–5F7 antibody by Bashir, R, Ramachandran, U, Rabelo, B, Exton, J, Henderson, M, Dubuisson, A, Kiuru-Enari, S, de Visser, M, Linssen, W.H.J.P, Baas, F, Mahjneh, I, Barresi, R

Get full text

P71 Characterisation of novel ANO5 antibodies by Ramachandran, U, Barresi, R, Marlow, G, Henderson, M, Mahjneh, I, Bashir, R

Get full text

FP42-TH-04 Autosomal recessive distal muscular dystrophy: a new entity by Somer, M, Paetau, A, Lamminen, A, Bashir, R, Mahjneh, I

Get full text

Episodic muscle pain, stiffness, and weakness associated with tubular aggregates and myoedema by Mahjneh, I., Lamminen, A., Tuominen, H.

“…We report a 28‐year‐old man who suffered from episodic muscle pain, stiffness and weakness. His serum creatine kinase (CK) levels were found to be elevated. He…”
Get full text

O.23 Anoctamin 5 (ANO5) subcellular localization in skeletal muscle by Conte, T.C, Bolduc, V, Larivière, R, Boycott, K.M, Inoue, H, Itakura, M, Robitaille, Y, Leblanc, N, Mahjneh, I, Bashir, R, O’Ferrall, E, Brais, B

Get full text

PO19-WE-13 Autosomal dominant limb-girdle muscular dystrophy linked to chromosome 7Q36: description of a phenotype by Mahjneh, I, Sandell, S, Sarparanta, J, Luque, H, Huovinen, S, Haapasalo, H, Hackman, P, Udd, B

Get full text

G.P.10.03 Refinement of the LGMD1 locus on 7q36 by genotyping new Finnish families by Hackman, P, Sandell, S, Sarparanta, J, Luque, H, Huovinen, S, Raheem, O, Jonson, P.H, Mahjneh, I, Udd, B

Get full text

Axial myopathy - an unrecognised entity by MAHJNEH, I, MARCONI, G, PAETAU, A, SAARINEN, A, SALMI, T, SOMER, H

“…Axial myopathy (AM) is a rare neuromuscular disorder characterised by selective involvement of the spinal muscles with a bent spine and/or drooping head as…”
Get full text

O.9 Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies by Bolduc, V, Marlow, G, Conte, T.C, Lariviere, R, Boycott, K.M, Saleki, K, Inoue, H, Kroon, J, Itakura, M, Robitaille, Y, Parent, L, Baas, F, Mizuta, K, Kamata, N, Richard, I, Linssen, W.H.J, Mahjneh, I, de Visser, M, Bashir, R, Brais, B

Get full text

A distinct phenotype of distal myopathy in a large Finnish family by MAHJNEH, I, HARAVUORI, H, PAETAU, A, ANDERSON, L. V. B, SAARINEN, A, UDD, B, SOMER, H

“…The authors carried out clinical, histopathologic, immunocytochemical, electrophysiologic, and imaging investigations and molecular genetic analysis in seven…”
Get full text

P13 Identification of a novel group of muscular dystrophies, the Anoctaminopathies, caused by recessive mutations in the putative calcium activated chloride channel, ANO5 by Marlow, G, Bolduc, V, Boycott, K.M, Saleki, K, Inoue, H, Kroon, J, Itakura, M, Robitaille, Y, Parent, L, Baas, F, Mizuta, K, Kamata, N, Richard, I, Linssen, W, Mahjneh, I, de Visser, M, Brais, B, Bashir, R

Get full text

Pure quadriceps myopathy in two sisters by Mahjneh, I., Somer, H., Paetau, A., Marconi, G.

“…The authors carried out a clinical, laboratory and muscle computed tomographgy CT follow‐up study of 18–21 years on two sisters affected by quadriceps myopathy…”
Get full text

Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3 by SELLICK, G. S, LONGMAN, C, BROCKINGTON, M, MAHJNEH, I, SAGI, L, BUSHBY, K, TOPALOGLU, H, MUNTONI, F, HOULSTON, R. S

“…The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders, which present within the first 6 months of life with…”
Get full text

Myopathy is a prominent feature in Marinesco-Sjögren syndrome : A muscle computed tomography study by MAHJNEH, Ibrahim, ANTTONEN, Anna-Kaisa, SOMER, Mirja, PAETAU, Anders, LEHESJOKI, Anna-Elina, SOMER, Hannu, UDD, Bjarne

“…Marinesco-Sjögren syndrome (MSS) is an autosomal recessive multiorgan disorder showing clinical and genetic heterogeneity. The key features of MSS include…”
Get full text

Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy by Mahjneh, I., Lamminen, A. E., Udd, B., Paetau, A. E., Hackman, P., Korhola, O. A., Somer, H. V. K.

“…Objectives – This is a report on a retrospective muscle magnetic resonance imaging (MRI) study on 11 patients affected by Welander distal myopathy (WDM) and 22…”
Get full text

Familial carpal tunnel syndrome: a report of a Finnish family by Mahjneh, I., Saarinen, A., Siivola, J.

“…The existence of familial carpal tunnel syndrome (FCTS) as a separate autonomic entity has been discussed during the last few years. In order to contribute…”
Get full text