Results 121 to 130 of about 927 (180)

A Novel Splice Site Variant in <i>KLHL40</i> Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability. [PDF]

Mol Syndromol
Sönmez B, Kocabey M, Polat Aİ, Gürsoy S, Karaoğlu P, Rita Horvath, Schon KR, Ülgenalp A, Yiş U, Çağlayan AO, Giray Bozkaya Ö.   +10 more
europepmc   +1 more source

Parents as First Responders: Experiences of Emergency Care in Children with Nemaline Myopathy: A Qualitative Study. [PDF]

Nurs Rep
Merchán Arjona R, Velarde-García JF, Pacheco Del Cerro E, Meneses Monroy A.   +3 more
europepmc   +1 more source

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Nemaline myopathy with intranuclear rods—intranuclear rod myopathy

Neuromuscular Disorders, 1997
Among the different nosological forms of nemaline/rod myopathy, one morphological variant is marked by intranuclear rods in addition to sarcoplasmic rods. Such patients fall into two categories: firstly, adults and secondly, young infants suffering from the severe form. Intranuclear rods indicate unfavourable prognosis.
Hans Hilmar Goebel
exaly   +3 more sources

Nemaline rods in chorea-acanthocytosis

Muscle and Nerve, 2005
AbstractIn chorea‐acanthocytosis, a neurological disorder associated with multisystem degeneration, amyotrophy and peripheral neuropathy are sometimes conspicuous. We describe a patient with chorea‐acanthocytosis who showed distributed nemaline rods in biopsied muscle.
Hiroshi Yaguchi, Masaya Hashimoto, Kiyoharu Inoue   +2 more
exaly   +3 more sources

A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy

Journal of Child Neurology, 2012
Nemaline rods are the pathologic hallmark of nemaline myopathy, but they have also been described as a secondary phenomenon in a variety of other disorders. Nemaline rods have not been reported in pyruvate carboxylase deficiency before. Here we present a patient with pyruvate carboxylase deficiency and nemaline rods detected on muscle biopsy.
Kalkanoglu-Sivri, H. Serap, Unal, ÖZLEM, ORHAN, DİCLEHAN, Ostergaard, Elsebet, TOKATLI, AYŞEGÜL, DURSUN, ALİ, ÖZTÜRK HİŞMİ, BURCU, COŞKUN, TURGAY, Wibrand, Flemming   +8 more
openaire   +4 more sources

Neonatal nemaline myopathy with abundant intranuclear rods

Neuromuscular Disorders, 1994
A term hypotonic female infant was born to a primigravida mother. The infant required mechanical ventilation from birth until death at 5 weeks of age. An elevated serum creatine kinase of 1300 IU l-1 lead to a quadriceps muscle biopsy at 3 days of age. The biopsy showed numerous intranuclear inclusions on light microscopy.
C E Jackson
exaly   +3 more sources