Results 31 to 40 of about 108,556 (256)

A CASE OF RELAPSING ACUTE POLIOMYELITIS SHOWING NYSTAGMUS; WITH PATHOLOGICAL EXAMINATION [PDF]

Brain, 1907
n ...
openaire   +2 more sources

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. [PDF]

, 2006
Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus.
Constantinescu, CS, Eryl O Roberts, Musarat Awan, Veal, CD, Lisgo, Steven, McLean, RJ, Veal, Colin D, Roberts, Eryl O, Oliver C Backhouse, Reinwcke, RD, Reinecke, RD, Surendran, Mylvaganam, Langmann, Andrea, Droutsas, K, Nagini Sarvananthan, Wooster, Richard, Uma Mallya, Jon Teague, Wooster, R, Hunter, DG, Martina Koch, Sarah Edkins, Parker, A, Parker, Adrian, Ioannis Asproudis, Langmann, A, Sunila Jain, Jain, S, Edkins, S, Richard Wooster, Edkins, Sarah, Degg, C, Woodruff, Geoffrey, Hertle, Richard W, Adrian Parker, Zubcov, Alina A, Sarvananthan, Nagini, Brodsky, Michael C, Stevens, Claire, P Andrew Futreal, Droutsas, Konstantinos, Teague, J, Reinecke, Robert D, Tarpey, Patrick, Michael R Stratton, Mylvaganam Surendran, Tarpey, P, Koch, M, Alina A Zubcov, Teague, Jon, Claire Stevens, McLean, Rebecca J, Jain, Sunila, Constantinescu, Cris S, Pieh, Christina, Raymond, FL, Read, RJ, F Lucy Raymond, Awan, M, Andrea Langmann, Lindner, Susanne, Chris J Talbot, Michael C Brodsky, Backhouse, OC, Zubcov, AA, Andrew Bastawrous, O'Meara, Sarah, Trembath, Richard C, Mallya, U, Pieh, C, Geoffrey Woodruff, Laura Baumber, Chris Degg, Gale, Richard P, Stratton, Michael R, Baumber, Laura, Rajiv D Machado, Backhouse, Oliver C, Asproudis, Ioannis, Lisgo, S, Thomas, Shery, Colin D Veal, Rebecca J McLean, Cris S Constantinescu, Randy J Read, Roberts, EO, Futreal, PA, Stratton, MR, Baumber, L, Konstantinos Droutsas, Asproudis, I, Machado, Rajiv D, Trembath, RC, Koch, Martina, Susanne Lindner, Mallya, Uma, Machado, RD, Gale, RP, Hertle, RW, Lindner, S, Gottlob, I, Read, Randy J, Sarah O'Meara, Bastawrous, Andrew, Talbot, CJ, Brodsky, MC, Degg, Chris, Irene Gottlob, Robert D Reinecke, Futreal, P Andrew, Surendran, M, Patrick Tarpey, Awan, Musarat, Richard C Trembath, Gottlob, Irene, David G Hunter, Talbot, Chris J, O'Meara, S, Shery Thomas, Raymond, F Lucy, Richard W Hertle, Steven Lisgo, Sarvananthan, N, Woodruff, G, Hunter, David G, Stevens, C, Thomas, S, Richard P Gale, Christina Pieh, Raymond, F. Lucy, Pieh-Beisse, Christina   +130 more
core   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Benign paroxysmal positional vertigo recurrence and persistence Recorrência e persistência da vertigem posicional paroxística benigna

Brazilian Journal of Otorhinolaryngology, 2009
Benign paroxysmal positional vertigo (BPPV) is one of the most common vestibular disorders. AIM: To study the recurrence and persistence of BPPV in patients treated with canalith repositioning maneuvers (CRM) during the period of one year.
Ricardo S Dorigueto, Karen R Mazzetti, Yeda Pereira L Gabilan, Fernando Freitas Ganança   +3 more
doaj   +1 more source

MONOCULAR NYSTAGMUS [PDF]

, 1964
It is pointed out bу Kurz J. 1950 that monocular nystagmus is а rаrе pathologic phenomenon. К. F. Voitovich claims that till 1959 about 100 observations have been reported in the liiterature.
Hubenov, P., Koynov, R.
core   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Análise da influência do nistagmo espontâneo e pré-calórico na vectoeletronistagmografia Analysis of spontaneous and per caloric nistagmus and its influence in vectonystagmography

Revista CEFAC, 2009
OBJETIVO: verificar a ocorrência do nistagmo espontâneo / pré-calórico, sua direção, cálculo da velocidade angular média e real da componente lenta, sua influência quantitativa e qualitativa nas pro-vas calórica e rotatória em pacientes com sintomas ...
Gisiane Munaro, Pricila Sleifer, Fleming Salvador Pedroso   +2 more
doaj   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Characteristics and mechanisms of periodic alternating nystagmus

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Periodic alternating nystagmus (PAN) is a rare, congenital or acquired spontaneous nystagmus. Understanding the characteristics and mechanism of different types of PAN contributes to the recognition of this disease and the level of diagnosis and ...
Fei LI, Gang-gang CHEN
doaj