Results 291 to 300 of about 245,637 (381)

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders

Movement Disorders, EarlyView.
Abstract Background The genetic landscape of pediatric cerebellar disorders (PCDs) in Finland is undefined. Objectives The objective was to define epidemiological, clinical, neuroradiological, and genetic characteristics of PCDs in Northern Finland.
Katariina Granath, Sanna Huhtaniska, Juulia Ellonen, Tytti Pokka, Salla M. Kangas, Jukka Moilanen, Heli Helander, Hanna Kallankari, Jonna Komulainen‐Ebrahim, Päivi Vieira, Elisa Rahikkala, Renzo Guerrini, Minna Honkila, Terhi S. Ruuska, Reetta Hinttala, Maria Suo‐Palosaari, Jussi‐Pekka Tolonen, Johanna Uusimaa   +17 more
wiley   +1 more source

Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield. [PDF]

Sci Rep
Lehtonen J, Sulonen AM, Almusa H, Lehtokari VL, Johari M, Palva A, Hakonen AH, Wartiovaara K, Lehesjoki AE, Udd B, Wallgren-Pettersson C, Pelin K, Savarese M, Saarela J.   +13 more
europepmc   +1 more source

Development and Preliminary Validation of a Parkinsonism‐Dystonia Scale for Infants and Young Children

Movement Disorders, EarlyView.
Abstract Background Parkinsonism in infancy is rare and is highly correlated with the presence of dystonia. Advances in treating and characterizing developmental and infantile degenerative parkinsonism have highlighted the need for a specialized assessment scale.
Roser Pons, Toni S. Pearson, Belen Perez‐Dueñas, Angels Garcia‐Cazorla, Manju A. Kurian, Zoi Dalivigka, Vasiliki Zouvelou, Chrysa Outsika, Eleftheria Kokkinou, Maria Sigatullina‐Bondarenko, Alejandra Darling, Maria del Mar O'Callaghan, Robert Spaull, Dora B.D. Steel, Evdokia Salamou, Maria João Forjaz, Carmen Rodriguez‐Blazquez   +16 more
wiley   +1 more source

The Underrecognized Role of Impaired Muscle Function in Cancer-Related Fatigue [PDF]

, 2010
Ng, Alexander V
core   +1 more source

Definition and Classification of Dystonia

Movement Disorders, EarlyView.
Abstract Dystonia is a movement disorder with varied clinical features and diverse etiologies. Here we present a revision of the 2013 consensus definition and classification of dystonia in light of subsequent publications and experience with its application during the last decade.
Alberto Albanese, Kailash P. Bhatia, Victor S.C. Fung, Mark Hallett, Joseph Jankovic, Christine Klein, Joachim K. Krauss, Anthony E. Lang, Jonathan W. Mink, Sanjay Pandey, Jan K. Teller, Marina A.J. Tijssen, Marie Vidailhet, H.A. Jinnah   +13 more
wiley   +1 more source

Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients

Movement Disorders, EarlyView.
Abstract Background Hereditary ataxias are genetically diverse, yet up to 75% remain undiagnosed due to technological and financial barriers. The GGC repeat expansion in ZFHX3, responsible for spinocerebellar ataxia type 4 (SCA4), has only been described in individuals of Northern Europeandescent.
Paula Saffie‐Awad, Abraham Moller, Kensuke Daida, Pilar Alvarez Jerez, Zhongbo Chen, Zachary B. Anderson, Mariam Isayan, Kimberly Paquette, Sophia B. Gibson, Madison Fulcher, Abigail Miano‐Burkhardt, Laksh Malik, Breeana Baker, Paige Jarreau, Henry Houlden, Mina Ryten, Bida Gu, Mark J.P. Chaisson, Danny E. Miller, Pedro Chaná‐Cuevas, Cornelis Blauwendraat, Andrew B. Singleton, Kimberley J. Billingsley   +22 more
wiley   +1 more source

SYMPTOMS, CLINICAL AND PHYSIOLOGICAL FINDINGS MOTIVATING HOME MECHANICAL VENTILATION IN PATIENTS WITH NEUROMUSCULAR DISEASES

, 2006
M. Laub, Sören Berg, Bengt Midgren
openalex   +1 more source

Intrafamilial Variability in WARS2‐Related Disorder: A Family Case

Movement Disorders Clinical Practice, EarlyView.
Federica Graziola, Federica Rachele Danti, Giorgia Segre, Morgana Fregonese, Rossella Izzo, Eleonora Lamentea, Daniele Ghezzi, Anna Ardissone, Giovanna Zorzi   +8 more
wiley   +1 more source

Advancements in Magnesium Applications, Biocompatible Implants to Nanoparticles in Medicine and Biomedical Innovations

MetalMat, EarlyView.
Magnesium (Mg) and its alloys are identified as prospective materials for orthopedic and cardiovascular applications because of their bio‐corrosiveness and ability to stimulate tissue reparative processes. Although compared with traditional metals, Mg is biocompatible; however, it has various problems that stem from its biodegradation nature, for ...
Muhammad Mubeen, Salman Khalid, Mohammad Tabish, Mubashar Mahmood, Muhammad Jawad, Muhammad Uzair Malik, Ghulam Yasin   +6 more
wiley   +1 more source