Results 81 to 90 of about 7,555 (190)

Expert Perspective: Diagnostic Approach to Differentiating Juvenile Dermatomyositis From Muscular Dystrophy

Arthritis &Rheumatology, Volume 77, Issue 5, Page 506-520, May 2025.
Clinical tools that can aid in the diagnostic differentiation of juvenile dermatomyositis from muscular dystrophy.
Jacqueline A. Madison, Sean P. Ferris, Marianne Kerski, Grace Hile, Sophia Matossian, Cara Komisar, Peter J. Strouse, Elizabeth Ames, Erin Neil Knierbein, Jessica L. Turnier   +9 more
wiley   +1 more source

Musculoskeletal mimics of lumbosacral radiculopathy

Muscle &Nerve, Volume 71, Issue 5, Page 816-832, May 2025.
Abstract Electrodiagnostic evaluations are commonly requested for patients with suspected radiculopathy. Understanding lower extremity musculoskeletal conditions is essential for electrodiagnostic medicine specialists, as musculoskeletal disorders often mimic or coexist with radiculopathy.
Emma A. Bateman, Christian D. Fortin, Meiqi Guo   +2 more
wiley   +1 more source

Common sports‐related nerve injuries seen by the electrodiagnostic medical consultant

Muscle &Nerve, Volume 71, Issue 5, Page 715-731, May 2025.
Abstract The high physiologic demands of sports create dynamic stress on joints, soft tissues, and nerves which may lead to injuries in the athlete. Electrodiagnostic (EDx) assessment is essential to identify the correct diagnosis, localization, and prognosis, to guide management of sports‐related neuropathies.
Jordan I. Farag, Alexandre N. McDougall, Michael Catapano   +2 more
wiley   +1 more source

¿Caminan de manera diferente los niños con trastorno por déficit de atención hiperactividad (TDAH)? Relación entre marcha de puntillas idiopática y TDAH

Anales de Pediatría, 2018
Resumen: Introducción: La marcha de puntillas idiopática (MPI) se describe como el patrón de marcha sin apoyo del talón en niños mayores de 3 años.
Víctor Soto Insuga, Beatriz Moreno Vinués, Rebeca Losada del Pozo, María Rodrigo Moreno, Marta Martínez González, Raquel Cutillas Ruiz, Carmen Mateos Carmen   +6 more
doaj   +1 more source

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype

Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema, Matej Lokar, Saman Vinke, Borut Peterlin, Gaber Bergant, Dejan Georgiev   +5 more
wiley   +1 more source

Immune Dysregulation in a Child With SOD1‐Related Neurological Disease

American Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.
ABSTRACT Spastic tetraplegia and axial hypotonia (STAHP) associated with biallelic SOD1 deficiency is a recently described neurological disorder affecting children. Five studies have described a total of nine cases thus far, all characterized by the onset of progressive spastic tetraplegia beginning before 2 years of age. All but two of these cases are
Rozlyn Claire Thomas Boutin, Farzaneh Shobeirian, Shelin Adam, Anna Lehman, Ramona Salvarinova, Jan M Friedman   +5 more
wiley   +1 more source

UNERTAN SYNDROME: A CASE SERIES DEMONSTRATING HUMAN DEVOLUTION [PDF]

, 2007
A large family with six individuals exhibiting the Unertan syndrome (UTS)was identified residing in southern Turkey. All of the individuals had mental impairments and walked on all four extremities.
Karaca, Dr. Sibel, Tan, Dr. Meliha, Tan, Prof. Dr. Uner   +2 more
core  

Polimiosite : investigação clínica em duas irmãs [PDF]

, 2002
We present an investigation of a case of polymyositis affecting two sisters of one same parenthood. Their cases have been documented for almost two decades, being investigated by means of a diagnostic protocol which combined clinical findings as well as ...
Bluthner M, Bohan A, Bohan A, Bruno Rodrigues Veloso Costa, Dalakas MC, Dalakas MC, Garlepp MJ, Garlepp MJ, Ge Q, Hilário, MOE, Hokezu Y, Lewkonia RM, Margô Gomes de Oliveira Karnikowski, Matsui K, Miller FW, Miller FW, Oliveira HA, Oscar Francisco Sanchez Osella, Otávio de Tolêdo Nóbrega, Plotz PH, Rider LG, Scola RH   +21 more
core   +4 more sources

Neurodevelopment in preschool idiopathic toe-walkers

Neurología (English Edition), 2017
Introduction: Idiopathic toe walking, a differential diagnosis for neurological and orthopaedic disorders, has been associated with neurodevelopmental alterations.
P. Martín-Casas, R. Ballestero-Pérez, A. Meneses-Monroy, J.V. Beneit-Montesinos, M.A. Atín-Arratibel, J.A. Portellano-Pérez   +5 more
doaj   +1 more source

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source