Results 201 to 210 of about 103,722 (368)

Clinical Insights Into Nabais Sá‐De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli, Erika Loi, Federica Zanardini, Giovanna Baldoni, Francesca Novara, Serena Panigada, Roberto Ciccone, Maria Rosa Cutrì, Alice Bertoletti, Lorenzo Pinelli, Elisa Fazzi   +10 more
wiley   +1 more source

Myelin basic protein in the cerebrospinal fluid of patients infected with HIV [PDF]

, 1989
Ackenheil, M., Bogner, Johannes R., Einhäupl, Karl Max, Fateh-Moghadam, A., Fröschl, M., Goebel, Frank-Detlef, Heinrich, B., Huber, M., Matuschke, A., Pfister, Hans-Walter, Pfäffl, M., Schielke, E., Wick, M.   +12 more
core   +1 more source

Vestibular Nystagmus [PDF]

, 1920
Leslie Paton
openalex   +1 more source

MTSS2 ‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Nystagmus in Clinical Practice: From Diagnosis to Treatment-A Comprehensive Review. [PDF]

Clin Ophthalmol
Gurnani B, Kaur K, Chaudhary S, Gandhi AS, Balakrishnan H, Mishra C, Gosalia H, Dhiman S, Joshi S, Nagtode AH, Jain S, Aguiar M, Rustagi IM.   +12 more
europepmc   +1 more source

General purpose algorithms for characterization of slow and fast phase nystagmus [PDF]

In the overall aim for a better understanding of the vestibular and optokinetic systems and their roles in space motion sickness, the eye movement responses to various dynamic stimuli are measured.
Lessard, Charles S.
core   +1 more source

Vorläufige Notiz über Nystagmus [PDF]

L. Kugel
openalex   +1 more source

The Mechanism of Nystagmus [PDF]

, 1908
W. R. Gowers
openalex   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Otoneurological evaluation: definitions and scientific evidence of bedside assessment and complementary exams. Outcomes of the II Brazilian Forum of Otoneurology. [PDF]

Braz J Otorhinolaryngol
Salmito MC, Morganti LOG, Venosa AR, Ganança FF, Ganança MM, Mezzalira R, Bittar RSM, Ramos BF, Dias CM, Real DM, Gonçalves DU, Zuma E Maia FC, Lopes KC, Santos MAO, Machado PLF, Albertino RS, Cal RVR, Dorigueto RS, Silva RC, Carvalho RCB, Albertino S.   +20 more
europepmc   +1 more source