Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Dubravka Dodig"'
Publikováno v:
Case Reports in Neurology, Vol 11, Iss 1, Pp 32-36 (2019)
The porphyrias are metabolic disorders due to a defect in the heme biosynthetic pathway. Patients have diverse clinical presentations with neuropathy being frequent in acute intermittent porphyria (AIP). Associated symptoms are abdominal pain and sei
Externí odkaz:
https://doaj.org/article/48af0313572b4a26b062d26e0da9fd9e
Publikováno v:
Muscle & Nerve. 65
Publikováno v:
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques.
The complement system is a tightly controlled signaling network that plays a role in innate immune surveillance. However, abnormal signaling through this pathway contributes to tissue damage in several inflammatory, autoimmune, and degenerative disea
Autor:
Srikanth Muppidi, Jeffrey T Guptill, Saiju Jacob, Yingkai Li, Maria E Farrugia, Amanda C Guidon, Jinny O Tavee, Henry Kaminski, James F Howard, Gary Cutter, Heinz Wiendl, Matthew B Maas, Isabel Illa, Renato Mantegazza, Hiroyuki Murai, Kimiaki Utsugisawa, Richard J Nowak, Alok Tyagi, Ana Paula Sousa, Anthony A Amato, Ashwin Pinto, Bhaskar Roy, Caroline Carmichael, Dubravka Dodig, Georgina Burke, Gary R Cutter, Henry J Kaminski, Ikjae Lee, Jeffrey Guptill, James F. Howard, James Caress, Jane Pritchard, John Vissing, Kamla Best, Mahtab Ramezani, Mathew Maas, Michael K Hehir, Michelle Kaku, Natalia Jiménez Esquivel, Paul Gallagher, Paul Maddison, Philip A Ambrose, Renato E Mantegazza, Rocio Vazquez Do Campo, Sami Saba, Shahriar Nafissi, Shannon Itoyama, Stuart Viegas Viegas, Victoria Marshall, Yingkai Li Li
Publikováno v:
LANCET NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
The Lancet. Neurology
The Lancet Neurology
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
The Lancet. Neurology
The Lancet Neurology
Publikováno v:
Neuromuscular Disorders
Publikováno v:
Journal of Clinical Neurophysiology. 33:e31-e33
Neuralgic amyotrophy is characterized by acute or subacute onset of shoulder and arm pain, followed by muscle atrophy and weakness, and variable sensory abnormalities. Historically, the site of inflammation has been localized to the brachial plexus,
Autor:
Lawrence Korngut, Hans D. Katzberg, Basil J. Petrof, Angela Genge, Nicolas Dupré, Julian Raiman, Harvey B. Sarnat, Dubravka Dodig, Mark A. Tarnopolsky, Sandra Sirrs, Kimberley A Myers, Aneal Khan, Shannon L. Venance
Publikováno v:
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. 43(4)
Pompe disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid alpha-glucosidase. Patients have skeletal muscle and respiratory weakness with or without cardiomyopathy. The objective of our review was to systematically evalua
Publikováno v:
Journal of the Neurological Sciences. 250:71-78
Dysferlin is a large sarcolemmal protein implicated in the repair of surface membrane tears in muscle cells. Mutations in dysferlin result in limb girdle muscular dystrophy type 2B and Miyoshi myopathy. Using a cDNA based approach we identified eight