Results 111 to 120 of about 520 (140)

Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia. [PDF]

J Neurol
Gorcenco S, Kafantari E, Wallenius J, Karremo C, Alinder E, Dobloug S, Landqvist Waldö M, Englund E, Ehrencrona H, Wictorin K, Karrman K, Puschmann A.   +11 more
europepmc   +1 more source

Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS. [PDF]

Int J Neonatal Screen
Gonçalves MM, Marcão A, Sousa C, Nogueira C, Fonseca H, Rocha H, Vilarinho L.   +6 more
europepmc   +1 more source

Cochlear Implantation in Brown–Vialetto–Van-Laere syndrome

The Journal of Laryngology & Otology, 2010
AbstractObjective:To report outcomes for the first known cochlear implantation procedures in two patients with Brown–Vialetto–Van-Laere syndrome.Patients:Two adult patients (a brother and sister) with post-lingual sensorineural deafness associated with Brown–Vialetto–Van-Laere syndrome.
A R, Sinnathuray, D R, Watson, B, Fruhstorfer, J R, Olarte, J G, Toner   +4 more
openaire   +3 more sources

Some of the next articles are maybe not open access.

Related searches:

Brown-Vialetto-Van Laere syndrome: Case report and literature review

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders: Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2000
We describe a case of the Brown-Vialetto-Van Laere syndrome, which is a rare disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. More than 30 cases have been reported since the first case was described in 1894.
Sivakumar Sathasivam, Suzanne O'Sullivan, Pamela J Shaw   +2 more
exaly   +3 more sources

Brown‐Vialetto‐Van Laere Syndrome

Neuropathology and Applied Neurobiology, 1993
The clinical and pathological findings of a male with the Brown—Vialetto—Van Laere syndrome are described. This rare and fatal affection of the nervous system involves mainly the brain stem with the prominent and early manifestation of sensorineural deafness.
D A, Francis, J R, Ponsford, C M, Wiles, P K, Thomas, L W, Duchen   +4 more
openaire   +3 more sources

The Brown‐Vialetto‐van Laere syndrome: a case report and literature review

European Journal of Neurology, 1994
We describe a female presenting with a progressive bulbar palsy, deafness and respiratory failure necessitating long‐term ventilation. These clinical features are consistent with the Brown‐Vialetto‐van Laere syndrome, a rare, sometimes inherited progressive ponto‐bulbar neuronopathy with associated deafness.
R J Davenport
exaly   +3 more sources

A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome

Neuromuscular Disorders, 2021
Sandhoff disease is a rare fatal infantile neurologic disorder. Adult onset Sandhoff is even rarer. Variability of clinical features in adult onset Sandhoff patients and overlaps between these and features of other neurologic diseases have sometimes led to mis-diagnosis.
Marzieh Khani, Hosein Shamshiri, Hanieh Taheri   +2 more
exaly   +3 more sources

Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome

Neuromuscular Disorders, 2005
Brown-Vialetto-Van Laere syndrome is a rare disease of unknown origin commonly considered as part of the large group of motor neuron diseases. The course is quite variable: it may be quickly fatal or protracted, with relapsing phases followed by periods of arrest and even partial improvement. We describe a case of Brown-Vialetto-Van Laere syndrome with
D, De Grandis, P, Passadore, M, Chinaglia, F, Brazzo, R, Ravenni, P, Cudia   +5 more
exaly   +3 more sources

Brown-Vialetto-van Laere syndrome: A riboflavin responsive neuronopathy of infancy with singular features

European Journal of Paediatric Neurology, 2014
We report the case of a previously healthy child presenting at 6 months of age with mild feeding difficulties and then developing hypotonia, progressive bulbar palsy with respiratory compromise and lower motor neuron signs, causing her to spend 4 months in the Paediatric Intensive Care Unit.
Carlotta Spagnoli, Matthew C Pitt, Shamima Rahman   +2 more
exaly   +3 more sources

A novel compound heterozygous mutation of C20orf54 gene associated with Brown–Vialetto–Van Laere syndrome in an Italian family

European Journal of Neurology, 2013
A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian ...
Mónica Bandettini di Poggio, Matteo Pardini, Enrico Marchioni   +2 more
exaly   +2 more sources