Results 111 to 120 of about 37,093 (216)

Dysarthria and Anarthria.

The Japan Journal of Logopedics and Phoniatrics, 1994
openaire   +3 more sources

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1465-1478, July 2026.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Multidimensional Measurements of Dysarthria in Myotonic Dystrophy Type 1. [PDF]

Int J Lang Commun Disord
Hellemond SV, Voet N, Kroon R, Sahin Y, Karnebeek I, Nijkamp M, Knuijt S.   +6 more
europepmc   +1 more source

Atypical Case of Takayasu Aortitis Presenting as Embolic Stroke With Concomitant Massive Thoracic Artery Aneurysm

Clinical Case Reports, Volume 14, Issue 7, July 2026.
Multifocal aortic aneurysmal dilatation as evidenced by CT Angiography chest‐abdomen‐pelvis of the ascending aorta (A), aortic arch (B), and suprarenal abdominal aorta (C), measuring 6.0 × 6.0, 4.5 × 4.5, and 4.1 × 3.7 cm, respectively. ABSTRACT We describe the case of a 44‐year‐old female with a history significant for only hypertension who presented ...
J. Curran Henson, Jordan H. Myers, Macy Cummins, Keyur Vyas, Michael Lowry   +4 more
wiley   +1 more source

Integrated acoustic and respiratory biomarkers of dysarthria in acquired brain injury: protocol for a cross-sectional study. [PDF]

BMJ Open
Argoubi A, Díez García R, Hernández Moreda B, Martín-Nogueras AM.   +3 more
europepmc   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross‐Border Surveillance in Germany, Austria, and Switzerland

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Arginase 1 deficiency (ARG1‐D) is an ultra‐rare urea cycle disorder characterized by progressive spastic paraplegia, developmental delay, epilepsy, and episodic hyperammonemia. Evidence on prevalence and clinical presentation is scarce. Therefore, epidemiology and the phenotypical spectrum were assessed in Germany, Austria, and Switzerland ...
Svenja Scharre, Annette L. Hess, Florian Gleich, Sven F. Garbade, Patrik Feyh, Daniela Karall, Anna Baghdasaryan, Martina Huemer, Julia B. Hennermann, Andreas Hahn, Martin Lindner, Gwendolyn Gramer, Thomas Luecke, Nils Kleinelanghorst, Johannes Haeberle, Amelie S. Lotz‐Havla, Georg F. Hoffmann, Juergen G. Okun, Ulrike Muetze, Stefan Kölker   +19 more
wiley   +1 more source

Efficacy of Digital Speech Therapy for Poststroke Dysarthria: Randomized Noninferiority Trial. [PDF]

J Med Internet Res
Kim Y, Kim M, Kim S, Kim J, Shin JH, Chang Y, Na JY, Kim J, Song TJ.   +8 more
europepmc   +1 more source

Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT 2‐oxyglutarate dehydrogenase (OGDH) encodes an E1 component of α‐ketoglutarate dehydrogenase complex that plays a pivotal role in the Krebs cycle. Biallelic variants in OGDH have been reported to cause an early‐onset neurodevelopmental and mitochondrial disorder.
Liedewei Van de Vondel, Gyu S. Lee, Jonathan De Winter, Satoshi Matsuzaki, Abigail Sandoval, Juan Felipe Ramirez, Alice Monticelli, Sukyeong Lee, Rita Horvath, Jan de Bleecker, Stephan Züchner, Kenneth M. Humphries, Jonathan Baets, Wan Hee Yoon   +13 more
wiley   +1 more source

Therapeutic efficacy of glucocorticoids, ATP, and antithyroid drugs in acute thyrotoxic myopathy: evaluation using the acute thyrotoxic myopathy symptom score. [PDF]

Front Endocrinol (Lausanne)
Li Q, Chen X, Huang Z, Zhang Y, Kuang Y, Wu C, Fu S, Wang T, Liu Y, Huang Z, Yang H, Xian J, Li L, Zhou J, Liang X, Qin Y, Luo Z.   +16 more
europepmc   +1 more source