Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with a substantial
heritable component. In pedigrees affected by its familial form, incomplete penetrance is …

… Pierre R Bourque Pierre R Bourque … Reference intervals were determined using quantile
regression in the statistical programming language R (8) as previously described (9); quantile …

Methods. A total of 39 unrelated FALS patients, negative for SOD1 mutations, were screened
for ANG mutations. This study was approved by the local ethics committee and participants …

Advances in DNA sequencing technologies have resulted in a near doubling, in under 10
years, of the number of causal genes identified for inherited neuromuscular disorders. …

Introduction Recent literature has concluded that cerebrospinal fluid total protein (CSF‐TP)
upper reference limits (URL) should be higher than 45 mg/dl and stratified by age. Methods …

Background Cerebrospinal fluid total protein (CSF-TP) is measured in the diagnosis of a
range of immune or infectious disorders of the nervous system. Most laboratories and the …

Peripheral nervous system axons and myelin have unique potential protein, proteolipid, and
ganglioside antigenic determinants. Despite the existence of a blood–nerve barrier, both …

Erythrokeratodermia (EK) is a rare skin disorder, likely genetic and usually present from
infancy. There is patchy symmetrical involvement over the body surface, manifested in …

Objective We set out to test the discriminative power of an age-adjusted upper reference
limit for cerebrospinal fluid total protein (CSF-TP) in identifying clinically relevant causes of …

The discriminative value of CSF total protein (CSF-TP) in subtypes of Guillain–Barré syndrome
has not been well documented in North-American patients. We reviewed 173 cases from …