Results 101 to 110 of about 48,192 (208)

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1 [PDF]

, 2000
The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK . Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline ...
Baiget, M., Gamez, J., Martorell, L., Monckton, D.G.   +3 more
core   +1 more source

CONGENITAL MYOPATHIES

Journal of the Siena Academy of Sciences, 2009
n ...
A. Malandrini, S. Gambelli, A. Orrico, L. Galli, C. Gaudiano, G. Berti, G. Serni, C. Salvadori, E. Zicari, MT. Dotti, V. Sorrentino, A. Federico   +11 more
openaire   +4 more sources

Surgical correction of a double congenital hernia in a veal calf

Veterinary Record Case Reports, Volume 14, Issue 2, May 2026.
Abstract This clinical case report describes the rare occurrence and successful surgical management of two simultaneous congenital hernias, umbilical and perineal, in a crossbred veal calf. At 5 days of age, the animal, weighing approximately 40 kg, showed visible swelling in the umbilical and perineal regions together with a congenital tail ...
Andrea Spadaro, Veronica Cristina Neve, Giovanna Lucrezia Costa, Roberto Puleio, Filippo Spadola   +4 more
wiley   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Decades of Misdiagnosis as Myasthenia Gravis: Late‐Onset POLG‐Related Ophthalmoplegia Unveiled by Whole‐Genome Sequencing

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT A 55‐year‐old male developed POLG‐related ophthalmoplegia in 2015 and was misdiagnosed with seronegative myasthenia gravis for 10 years. Whole‐genome sequencing identified compound heterozygous POLG mutations, highlighting its value in diagnosing refractory neuromuscular disorders.
Tanli Lu, Huadong Lv, Xiaodan Luo, Xiuying Liu   +3 more
wiley   +1 more source

Unusual cause of muscle weakness, type II respiratory failure and pulmonary hypertension: a case report of ryanodine receptor type 1(RYR1)-related myopathy

BMC Pulmonary Medicine
Background Patients with congenital myopathies may experience respiratory involvement, resulting in restrictive ventilatory dysfunction and respiratory failure.
Yinong Chen, Shuai Zhang, Xin Lu, Wanmu Xie, Chen Wang, Zhenguo Zhai   +5 more
doaj   +1 more source

Doenças musculares no hipertiroidismo.

Acta Médica Portuguesa, 1995
Hyperthyroidism may present various muscular diseases, namely thyrotoxic chronic myopathy, myasthenia gravis, disthyroid ophthalmopathy and thyrotoxic periodic paralysis.
F Pissarra, M Carvalho, C Morais, J Fortuna, J G Gonçalves, M João Neto   +5 more
doaj   +1 more source

Histochemical Analysis of Paraspinal Rotator Muscles From Patients With Adolescent Idiopathic Scoliosis A Cross-Sectional Study [PDF]

, 2015
Morphological, biochemical, and histopathological alterations in the paraspinal skeletal muscle of patients with adolescent idiopathic scoliosis (AIS) have been extensively reported.
Del Curto, David, Faloppa, Flavio, Luciano, Rafael de Paiva, Martins, Delio Eulalio, Oliveira, Acary Souza Bulle, Puertas, Eduardo Barros, Schmidt, Beny, Wajchenberg, Marcelo   +7 more
core   +2 more sources

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review

Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell, Derek Garcia, Alexandra Hollá, Ilana Chilton, Seth DeVries, Ana María Gómez‐Moreno, Manuel Lubián‐Gutiérrez, Qian Shi, Manzoor A. Bhat   +8 more
wiley   +1 more source