Charcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of
hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a …

The frequency of amyotrophic lateral sclerosis (ALS) mutations has been extensively investigated
in several populations; however, a systematic analysis in Turkish cases has not been …

The end‐plate species of acetylcholinesterase (AChE) is an asymmetric enzyme consisting
of a collagenic tail subunit composed of three collagenic strands (ColQ), each attached to a …

Autosomal recessive limb girdle muscular dystrophy (LGMD2) is a clinically and genetically
heterogenous group of diseases involving at least six different loci. Five genes have already …

Nerve biopsy is often the final step in the diagnostic work‐up of neuropathies of unknown
origin. The aim of this guideline was to prepare an evidence‐based guideline on the methods …

Background Autosomal recessive limb girdle muscular dystrophy (LGMD2) is a heterogeneous
group of myopathies characterised by progressive muscle weakness involving proximal …

• In idiopathic thrombocytopenic purpura, a known immune-mediated disorder, intravenous
IgG is the treatment of choice. Success and the lack of side effects of intravenous IgG in the …

… Muhammed Kılınç, PT, PhD1, Ayşe Livanelioğlu, PT, PhD1, Sibel Aksu Yıldırım, PT,
PhD1 and Ersin Tan, MD2 … tan G, Jensen MP, thornby Ji, shanti BF. Validation of brief …

Merosin-deficient congenital muscular dystrophy (CMD) is an autosomal recessive condition
usually with onset at birth or within the first months of life. Affected children are severely …

Autosomal recessive limb-girdle muscular dystrophies (LGMD2s) are a clinically and
genetically heterogeneous group of disorders, characterized by progressive involvement of the …