Ibrahim Mahjneh

Pietasaari Hospital PL 23
Jakobstad, 68601, Finland

Last Updated: 09/26/2026

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Found 11 publications

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

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

Journal: Neurology. Genetics

Published: July 21, 2021

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

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

Journal: Cell death discovery

Published: May 28, 2019

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.

Journal: Journal of neuromuscular diseases

Published: December 03, 2016

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

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

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: April 23, 2013

'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

Journal: European journal of neurology

Published: February 08, 2013

DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy.

DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy.

Journal: Neuromuscular disorders : NMD

Published: March 07, 2012

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

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

Journal: Nature genetics

Published: October 13, 2011

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

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

Journal: Neuromuscular disorders : NMD

Published: August 02, 2011

Bent spine straightens up--a case of camptocormia

Bent spine straightens up--a case of camptocormia

Journal: Duodecim; laaketieteellinen aikakauskirja

Published: October 29, 2009

Episodic muscle pain, stiffness, and weakness associated with tubular aggregates and myoedema.

Episodic muscle pain, stiffness, and weakness associated with tubular aggregates and myoedema.

Journal: European journal of neurology

Published: April 18, 2007

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

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

Journal: Journal of neurology

Published: May 09, 2005

Showing 1-11 of 11

Last Updated: 09/26/2026