A genome-wide linkage analysis to map the underlying genetic defect was performed in a consanguineous African family with five patients affected with a novel variant of autosomal recessive lower motor neuron disease (LMND), in a study at Hopital Necker Enfants Malades and other centers, Paris, France
Motor neuron diseases (MNDs) are an etiologically heterogeneous group of disorders that are characte...
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, adult-onset motor neuron disease that ...
We describe the neurological, electrophysiological, and genetic features of autosomal dominant dista...
International audienceOBJECTIVE: To describe the clinical features of a novel variant of autosomal r...
Full list of author information is available at the end of the articleG member 5 (PLEKHG5) has been ...
The motor neuron diseases (MND) are a group of related neurodegenerative diseases that cause the rel...
Distal hereditary motor neuronopathy is a genetically and clinically heterogeneous disorder. To date...
Hereditary lower motor neuron diseases (LMND) other than 5q-spinal muscular atrophy (5q-SMA) can be ...
Mutant genes associated with Charcot Marie Tooth type 2, distal hereditary motor neuropathy and fami...
International audienceBACKGROUND: Frontotemporal dementia associated with motor neuron disease (FTD-...
Autosomal-recessive mutations in the Alsin Rho guanine nucleotide exchange factor (ALS2) gene may ca...
WOS: 000585822000001PubMed: 33155358Autosomal-recessive mutations in the Alsin Rho guanine nucleotid...
To report the frequency and characteristics of patients diagnosed with primary lateral sclerosis (PL...
International audienceBackground and aims: The identification of underlying genes of genetic conditi...
Background: Inherited peripheral neuropathies (IPNs) represent a broad group of genetically and clin...
Motor neuron diseases (MNDs) are an etiologically heterogeneous group of disorders that are characte...
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, adult-onset motor neuron disease that ...
We describe the neurological, electrophysiological, and genetic features of autosomal dominant dista...
International audienceOBJECTIVE: To describe the clinical features of a novel variant of autosomal r...
Full list of author information is available at the end of the articleG member 5 (PLEKHG5) has been ...
The motor neuron diseases (MND) are a group of related neurodegenerative diseases that cause the rel...
Distal hereditary motor neuronopathy is a genetically and clinically heterogeneous disorder. To date...
Hereditary lower motor neuron diseases (LMND) other than 5q-spinal muscular atrophy (5q-SMA) can be ...
Mutant genes associated with Charcot Marie Tooth type 2, distal hereditary motor neuropathy and fami...
International audienceBACKGROUND: Frontotemporal dementia associated with motor neuron disease (FTD-...
Autosomal-recessive mutations in the Alsin Rho guanine nucleotide exchange factor (ALS2) gene may ca...
WOS: 000585822000001PubMed: 33155358Autosomal-recessive mutations in the Alsin Rho guanine nucleotid...
To report the frequency and characteristics of patients diagnosed with primary lateral sclerosis (PL...
International audienceBackground and aims: The identification of underlying genes of genetic conditi...
Background: Inherited peripheral neuropathies (IPNs) represent a broad group of genetically and clin...
Motor neuron diseases (MNDs) are an etiologically heterogeneous group of disorders that are characte...
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, adult-onset motor neuron disease that ...
We describe the neurological, electrophysiological, and genetic features of autosomal dominant dista...